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+ Genes 102

+ Genes associated with diseases 95

Genes at Omim

AARS, ABHD12, ADCY6, AIRE, ALPL, ANK3, AP2S1, ATL1, ATP1A1, ATP7A, C12orf65, CASR, CCT5, CHCHD10, CNTN1, CNTN2, CNTNAP1, CTDP1, CYP24A1, DHTKD1, DNMT1, DST, DYNC1H1, ECEL1, EGR2, FAM134B, FBLN5, FBXO38, FGD4, GAN, GARS, GATA3, GDAP1, GLDN, GNA11, GNAS, GNB4, HADHB, HK1, HSPB3, IARS2, IGHMBP2, IKBKAP, INF2, KARS, KIF1B, LGI4, LITAF, LMNA, LRP5, LRSAM1, MEN1, MME, MYH14, NAGLU, NEFH, NFASC, NTRK1, OPA1, PHYH, PLS3, PMP2, PMP22, PRDM12, PRX, PTH, REEP1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SETX, SH3TC2, SLC12A6, SLC25A19, SLC34A1, SLC34A3, SOX10, SPG11, SPTBN4, SPTLC2, STX16, SYNE1, SYT2, TBX1, TFG, TRPA1, TRPM6, TRPV4, VDR, WARS, WNK1,
AARS Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)
Epileptic encephalopathy, early infantile, 29, 616339 (3)
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ADCY6 ?Lethal congenital contracture syndrome 8, 616287 (3)
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
AP2S1 Hypocalciuric hypercalcemia, type III, 600740 (3)
ATL1 Neuropathy, hereditary sensory, type ID, 613708 (3)
Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATP1A1 Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 (3)
Hypomagnesemia, seizures, and mental retardation 2, 618314 (3)
ATP7A Menkes disease, 309400 (3)
Occipital horn syndrome, 304150 (3)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
C12orf65 Combined oxidative phosphorylation deficiency 7, 613559 (3)
Spastic paraplegia 55, autosomal recessive, 615035 (3)
CASR Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)
?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)
Spinal muscular atrophy, Jokela type, 615048 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
CNTN2 ?Epilepsy, myoclonic, familial adult, 5, 615400 (3)
CNTNAP1 Hypomyelinating neuropathy, congenital, 3, 618186 (3)
Lethal congenital contracture syndrome 7, 616286 (3)
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DST Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
ECEL1 Arthrogryposis, distal, type 5D, 615065 (3)
EGR2 Charcot-Marie-Tooth disease, type 1D, 607678 (3)
Hypomyelinating neuropathy, congenital, 1, 605253 (3)
Dejerine-Sottas disease, 145900 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FBLN5 Cutis laxa, autosomal dominant 2, 614434 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Macular degeneration, age-related, 3, 608895 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FBXO38 Neuronopathy, distal hereditary motor, type IID, 615575 (3)
FGD4 Charcot-Marie-Tooth disease, type 4H, 609311 (3)
GAN Giant axonal neuropathy-1, 256850 (3)
GARS Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
GATA3 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)
GDAP1 Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Charcot-Marie-Tooth disease, type 4A, 214400 (3)
GLDN Lethal congenital contracture syndrome 11, 617194 (3)
GNA11 Hypocalcemia, autosomal dominant 2, 615361 (3)
Hypocalciuric hypercalcemia, type II, 145981 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)
HADHB Trifunctional protein deficiency, 609015 (3)
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Retinitis pigmentosa 79, 617460 (3)
HSPB3 ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
IARS2 ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IKBKAP Dysautonomia, familial, 223900 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
KARS Deafness, autosomal recessive 89, 613916 (3)
?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)
KIF1B {Neuroblastoma, susceptibility to, 1}, 256700 (3)
Pheochromocytoma, 171300 (3)
?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LITAF Charcot-Marie-Tooth disease, type 1C, 601098 (3)
LMNA Cardiomyopathy, dilated, 1A, 115200 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Hutchinson-Gilford progeria, 176670 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)
Malouf syndrome, 212112 (3)
Mandibuloacral dysplasia, 248370 (3)
Muscular dystrophy, congenital, 613205 (3)
Restrictive dermopathy, lethal, 275210 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MME Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3)
?Spinocerebellar ataxia 43, 617018 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
NFASC Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
OPA1 {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Behr syndrome, 210000 (3)
Optic atrophy 1, 165500 (3)
Optic atrophy plus syndrome, 125250 (3)
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)
PHYH Refsum disease, 266500 (3)
PLS3 Bone mineral density QTL18, osteoporosis, 300910 (3)
PMP2 Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 (3)
PMP22 Charcot-Marie-Tooth disease, type 1A, 118220 (3)
Charcot-Marie-Tooth disease, type 1E, 118300 (3)
Dejerine-Sottas disease, 145900 (3)
Neuropathy, recurrent, with pressure palsies, 162500 (3)
?Neuropathy, inflammatory demyelinating, 139393 (3)
Roussy-Levy syndrome, 180800 (3)
PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
PTH Hypoparathyroidism, autosomal dominant, 146200 (3)
Hypoparathyroidism, autosomal recessive, 146200 (3)
REEP1 ?Neuronopathy, distal hereditary motor, type VB, 614751 (3)
Spastic paraplegia 31, autosomal dominant, 610250 (3)
SACS Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SBF1 Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SCN10A Episodic pain syndrome, familial, 2, 615551 (3)
SCN11A Episodic pain syndrome, familial, 3, 615552 (3)
Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)
SCN9A Febrile seizures, familial, 3B, 613863 (3)
HSAN2D, autosomal recessive, 243000 (3)
Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3)
Erythermalgia, primary, 133020 (3)
Insensitivity to pain, congenital, 243000 (3)
Paroxysmal extreme pain disorder, 167400 (3)
Small fiber neuropathy, 133020 (3)
{Dravet syndrome, modifier of}, 607208 (3)
SEPT9 Amyotrophy, hereditary neuralgic, 162100 (3)
Leukemia, acute myeloid, therapy-related (1)
Ovarian carcinoma (1)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC34A1 Hypercalcemia, infantile, 2, 616963 (3)
?Fanconi renotubular syndrome 2, 613388 (3)
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SPG11 Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)
Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)
Spastic paraplegia 11, autosomal recessive, 604360 (3)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
STX16 Pseudohypoparathyroidism, type IB, 603233 (3)
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
SYT2 Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3)
TBX1 Conotruncal anomaly face syndrome, 217095 (3)
DiGeorge syndrome, 188400 (3)
Tetralogy of Fallot, 187500 (3)
Velocardiofacial syndrome, 192430 (3)
TFG Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3)
?Spastic paraplegia 57, autosomal recessive, 615658 (3)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
VDR ?Osteoporosis, involutional, 166710 (1)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

AARS, ABHD12, ADCY6, AIRE, ALPL, AP2S1, ATL1, ATP7A, CASR, CCT5, CHCHD10, CNTN1, CNTN2, CNTNAP1, CTDP1, CYP24A1, DHTKD1, DNMT1, DST, DYNC1H1, ECEL1, EGR2, FAM134B, FBLN5, FBXO38, FGD4, GAN, GARS, GATA3, GDAP1, GNA11, GNAS, GNB4, HADHB, HK1, HSPB3, IARS2, IGHMBP2, IKBKAP, INF2, KARS, KIF1B, LITAF, LMNA, LRP5, LRSAM1, MEN1, MYH14, NAGLU, NEFH, NTRK1, OPA1, PHYH, PLS3, PMP22, PRDM12, PRX, PTH, PTH1R, REEP1, SACS, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SETX, SH3TC2, SLC12A6, SLC25A19, SLC34A1, SLC34A3, SOX10, SPG11, STX16, SYNE1, SYT2, TBX1, TFG, TRPA1, TRPM6, TRPV4, VDR, WNK1,
AARS Charcot-Marie-Tooth disease, axonal, type 2N
Epileptic encephalopathy, early infantile, 29
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADCY6 Lethal congenital contracture syndrome 8
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
ALPL Hypophosphatasia, infantile
Odontohypophosphatasia
AP2S1 Hypocalciuric hypercalcemia, familial, type III
ATL1 Neuropathy, hereditary sensory, type 1D
Spastic paraplegia 3, autosomal dominant
ATP7A Menkes disease
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant
CNTN1 Myopathy, congenital, Compton-North
CNTN2 Epilepsy, familial adult myoclonic 5
CNTNAP1 Lethal congenital contracture syndrome 7
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DST Neuropathy, hereditary sensory and autonomic, type VI
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
ECEL1 Arthrogryposis, distal, type 5D
EGR2 Charcot-Marie-Tooth disease, demyelinating, type 1D
Neuropathy, congenital hypomyelinating, 1
Dejerine-Sottas disease
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
FBXO38 Neuronopathy, distal hereditary motor, type IID
FGD4 Charcot-Marie-Tooth disease, type 4H
GAN Giant axonal neuropathy 1, autosomal recessive
GARS Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type V
GATA3 Hypoparathyroidism, sensorineural deafness, and renal dysplasia
GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
Charcot-Marie-Tooth disease, axonal, type 2K
Charcot-Marie-Tooth disease, type 4A
GNA11 Hypocalcemia 2, autosomal dominant
Hypocalciuric hypercalcemia, autosomal dominant
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
GNB4 Charcot-Marie-Tooth disease, dominant intermediate F
HADHB Trifunctional protein deficiency
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HSPB3 Neuronopathy, distal hereditary motor, type IIC
IARS2 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS)
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
IKBKAP Dysautonomia, familial
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
KARS Charcot-Marie-Tooth disease, recessive intermediate B
KIF1B Neuroblastoma, susceptibility to
Pheochromocytoma
LITAF Charcot-Marie-Tooth disease, type 1C
LMNA Cardiomyopathy, dilated, 1A
Heart-hand syndrome, Slovenian type
Emery-Dreiffus muscular dystrophy, autosomal dominant
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Muscular dystrophy, congenital, LMNA-related
Limb-girdle muscular dystrophy type 1B
Malouf syndrome
Lipodystrophy, familial partial, 2 (Dunnigan type)
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
NTRK1 Insensitivity to pain, congenital, with anhidrosis
OPA1 Glaucoma, normal tension, susceptibility to
PHYH Refsum disease
PLS3 Osteoporosis and osteoporotic fractures
PMP22 Roussy-Levy syndrome
Charcot-Marie-Tooth syndrome, type 1A
Charcot-Marie-Tooth syndrome with deafness (type 1E)
Neuropathy, hereditary, with liability to pressurve palsies
Dejerine-Sottas disease
Neuropathy, inflammatory demyelinating
PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
PTH Hypoparathyroidism, familial isolated
PTH1R Eiken syndrome
Chondrodysplasia, Blomstrand type
Metaphyseal chondrodysplasia, Murk Jansen type
Failure of tooth eruption, primary
REEP1 Spastic paraplegia 31
Distal hereditary motor neuronopathy VB
SACS Spastic ataxia, Charlevoix-Saguenay type
SBF1 Charcot-Marie-Tooth disease, type 4B3
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SCN11A Episodic pain syndrome, familial, 3
Neuropathy, hereditary sensory and autonomic, type VI
SCN9A Paroxysmal extreme pain disorder
SEPT9 Amyotrophy, hereditary neuralgic
SETX Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
SH3TC2 Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SLC25A19 Thiamine metabolism dysfunction syndrome 4
Microcephaly, Amish type
SLC34A1 Fanconi renotubular syndrome 2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SPG11 Amyotrophic lateral sclerosis 5, juvenile recessive
Charcot-Marie-Tooth disease, axonal, type 2X
Spastic paraplegia 11
STX16 Pseudohypoparathyroidism, type IB
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
SYT2 Myasthenic syndrome, congenital 7
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TFG Hereditary motor and sensory neuropathy, proximal type
Spastic paraplegia 57
TRPA1 Episodic pain syndrome, familial
TRPM6 Hypomagnesemia 1, intestinal
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
VDR Vitamin D-dependent rickets, type 2A
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA

Genes at HGMD

Summary

Number of Variants: 959
Number of Genes: 102

Export to: CSV

AARS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 16 rs35744709
dbSNP Clinvar 		70286631 4798.77 T A . 0/1 509 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00359 0.00359 0.01031 0.00 0.74 None None None None None None AARS|0.341353977|24.74%
View m21 14_15b68a 16 rs4081753
dbSNP Clinvar 		70287177 1680.77 A G . 0/1 191 SYNONYMOUS_CODING LOW SILENT 0.88119 0.88120 0.15082 None None None None None None AARS|0.341353977|24.74%

ABHD12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 20 rs6107027
dbSNP Clinvar 		25288632 5090.77 G A . 1/1 203 SYNONYMOUS_CODING LOW SILENT 0.33606 0.33610 0.43465 None None None None None None ABHD12|0.092039068|52.8%

ADCY6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 12 rs2453486
dbSNP Clinvar 		49177113 4196.77 T G . 0/1 449 SYNONYMOUS_CODING LOW SILENT 0.29213 0.29210 0.26965 None None None None None None ADCY6|0.441849668|18.58%
View m21 14_15b68a 12 rs3730071
dbSNP Clinvar 		49168798 2257.77 C A . 0/1 291 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00799 0.00799 0.02207 0.10 0.13 None None None None None None ADCY6|0.441849668|18.58%

AIRE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 21 rs74203920
dbSNP Clinvar 		45714294 4034.77 C T . 1/1 167 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00439 0.00439 0.00850 0.04 0.65 None None None None None None AIRE|0.006628229|83.92%
View m21 14_15b68a 21 rs1800521
dbSNP Clinvar 		45712977 8537.77 T C . 1/1 341 SYNONYMOUS_CODING LOW SILENT 0.35623 0.35620 0.39350 None None None None None None AIRE|0.006628229|83.92%

ALPL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 1 rs1780316
dbSNP Clinvar 		21889635 13163.77 T C . 1/1 532 SYNONYMOUS_CODING LOW SILENT 0.92951 0.92950 0.07827 None None None None None None ALPL|0.999977593|0.11%

ANK3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 10 rs3750800
dbSNP Clinvar 		61868716 3284.77 C A . 0/1 372 SYNONYMOUS_CODING LOW SILENT 0.17911 0.17910 0.23958 None None None None None None ANK3|0.919303788|3%
View m21 14_15b68a 10 rs140183285
dbSNP Clinvar 		61830642 3899.77 T A . 0/1 348 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.00192 0.04 0.43 None None None None None None ANK3|0.919303788|3%
View m21 14_15b68a 10 rs71495633
dbSNP Clinvar 		62029934 2854.77 G C . 0/1 302 SYNONYMOUS_CODING LOW SILENT 0.01558 0.01558 0.11210 None None None None None None ANK3|0.919303788|3%
View m21 14_15b68a 10 rs147527383
dbSNP Clinvar 		61829951 3562.77 T C . 0/1 366 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.00192 0.00 0.07 None None None None None None ANK3|0.919303788|3%
View m21 14_15b68a 10 rs2297979
dbSNP Clinvar 		61965625 1571.77 A G . 0/1 168 SYNONYMOUS_CODING LOW SILENT 0.15156 0.15160 0.18176 None None None None None None ANK3|0.919303788|3%

AP2S1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 19 rs312185
dbSNP Clinvar 		47342867 2980.77 A C . 0/1 315 None None None 0.59066 0.59070 0.48962 0.72 0.00 None None None None None None AP2S1|0.194093268|37.41%

ATL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 14 rs1060197
dbSNP Clinvar 		51057727 6151.77 G A . 1/1 242 SYNONYMOUS_CODING LOW SILENT 0.82149 0.82150 0.20414 None None None None None None ATL1|0.525719843|14.74%

ATP1A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 1 rs11540956
dbSNP Clinvar 		116932921 3093.77 G A . 0/1 282 SYNONYMOUS_CODING LOW SILENT 0.08107 0.08107 0.08350 None None None None None None ATP1A1|0.226525928|33.72%

ATP7A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a X rs4826245
dbSNP Clinvar 		77298857 3446.77 G A . 1/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None ATP7A|0.267298986|30.07%

C12orf65
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 12 rs78651634
dbSNP Clinvar 		123738265 2453.77 G A . 0/1 288 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00779 0.00779 0.01922 0.05 0.18 None None None None None None C12orf65|0.016864972|75.97%

CADM3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 1 rs862999
dbSNP Clinvar 		159169641 4022.77 T C . 0/1 414 SYNONYMOUS_CODING LOW SILENT 0.83107 0.83110 0.21036 None None None None None None CADM3|0.183772786|38.55%

CASR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 3 rs1801726
dbSNP Clinvar 		122003832 13966.77 G C . 1/1 532 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92412 0.92410 0.08219 1.00 0.00 None None None None None None CASR|0.90333935|3.37%
View m21 14_15b68a 3 rs1801725
dbSNP Clinvar 		122003757 4259.77 G T . 0/1 540 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09425 0.09425 0.11156 0.23 0.04 None None None None None None CASR|0.90333935|3.37%
View m21 14_15b68a 3 rs1042636
dbSNP Clinvar 		122003769 6022.77 A G . 0/1 530 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20647 0.20650 0.06289 0.00 0.05 None None None None None None CASR|0.90333935|3.37%
View m21 14_15b68a 3 rs2036400
dbSNP Clinvar 		122003045 16690.77 G C . 1/1 654 SYNONYMOUS_CODING LOW SILENT 0.97284 0.97280 0.02799 None None None None None None CASR|0.90333935|3.37%

CCT5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 5 rs2578617
dbSNP Clinvar 		10254817 5058.77 A G . 1/1 207 SYNONYMOUS_CODING LOW SILENT 0.68590 0.68590 0.28133 None None None None None None CCT5|0.365250197|23.05%
View m21 14_15b68a 5 rs2548546
dbSNP Clinvar 		10250430 6040.77 G A . 1/1 237 None None None 0.68530 0.68530 0.28702 0.00 None None None None None None CCT5|0.365250197|23.05%
View m21 14_15b68a 5 rs1042392
dbSNP Clinvar 		10256161 8156.77 T C . 1/1 323 SYNONYMOUS_CODING LOW SILENT 0.69249 0.69250 0.27264 None None None None None None CCT5|0.365250197|23.05%
View m21 14_15b68a 5 rs2578618
dbSNP Clinvar 		10250443 6624.77 T C . 1/1 261 START_GAINED LOW 0.68530 0.68530 0.28195 0.00 None None None None None None CCT5|0.365250197|23.05%

CHCHD10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 22 rs9153
dbSNP Clinvar 		24108412 1269.77 G A . 0/1 174 SYNONYMOUS_CODING LOW SILENT 0.72983 0.72980 0.19499 None None None None None None CHCHD10|0.015011656|77.11%
View m21 14_15b68a 22 rs179468
dbSNP Clinvar 		24109774 6308.77 T G . 1/1 249 SYNONYMOUS_CODING LOW SILENT 0.87580 0.87580 None None None None None None CHCHD10|0.015011656|77.11%
View m21 14_15b68a 22 rs111527940
dbSNP Clinvar 		24109588 2699.77 C T . 0/1 281 SYNONYMOUS_CODING LOW SILENT 0.00200 0.00200 0.00755 None None None None None None CHCHD10|0.015011656|77.11%

CNTN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 12 rs1056019
dbSNP Clinvar 		41337435 1649.77 C T . 0/1 183 SYNONYMOUS_CODING LOW SILENT 0.57149 0.57150 0.37842 None None None None None None CNTN1|0.376559884|22.29%

CNTN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 1 rs2229866
dbSNP Clinvar 		205031116 4274.77 C T . 0/1 471 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55112 0.55110 0.34105 0.23 0.02 None None None None None None CNTN2|0.410798215|20.14%
View m21 14_15b68a 1 rs2275697
dbSNP Clinvar 		205027737 2786.77 G A . 0/1 274 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29333 0.29330 0.15424 0.31 0.00 None None None None None None CNTN2|0.410798215|20.14%
View m21 14_15b68a 1 rs2229868
dbSNP Clinvar 		205041158 2935.77 C T . 0/1 398 SYNONYMOUS_CODING LOW SILENT 0.35663 0.35660 0.22297 None None None None None None CNTN2|0.410798215|20.14%

CNTNAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 17 rs2271029
dbSNP Clinvar 		40835922 3241.77 A C . 0/1 379 SYNONYMOUS_CODING LOW SILENT 0.57828 0.57830 0.40151 None None None None None None CCR10|0.053503756|61.62%,CNTNAP1|0.482403891|16.64%
View m21 14_15b68a 17 rs62001916
dbSNP Clinvar 		40838024 4415.77 C T . 0/1 522 SYNONYMOUS_CODING LOW SILENT 0.00459 0.00459 0.00615 None None None None None None CNTNAP1|0.482403891|16.64%

CTDP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 18 rs626169
dbSNP Clinvar 		77513721 11432.77 T C . 1/1 462 SYNONYMOUS_CODING LOW SILENT 0.89517 0.89520 0.10357 None None None None None None CTDP1|0.016641517|76.13%
View m21 14_15b68a 18 rs17855830
dbSNP Clinvar 		77440128 3448.77 T G . 0/1 342 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65535 0.65540 0.91 0.00 None None None None None None CTDP1|0.016641517|76.13%

CYP24A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 20 rs2296239
dbSNP Clinvar 		52775528 2848.77 C T . 0/1 358 SYNONYMOUS_CODING LOW SILENT 0.39557 0.39560 0.27718 None None None None None None CYP24A1|0.07549571|56.17%
View m21 14_15b68a 20 rs2296241
dbSNP Clinvar 		52786219 6055.77 G A . 1/1 241 SYNONYMOUS_CODING LOW SILENT 0.45807 0.45810 0.47570 None None None None None None CYP24A1|0.07549571|56.17%

DHTKD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 10 rs2062988
dbSNP Clinvar 		12143105 4511.77 C G . 1/1 176 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72404 0.72400 0.25796 1.00 0.00 None None None None None None DHTKD1|0.100987325|50.99%
View m21 14_15b68a 10 rs1701472
dbSNP Clinvar 		12148259 6242.77 A C . 1/1 247 SYNONYMOUS_CODING LOW SILENT 0.95407 0.95410 0.05052 None None None None None None DHTKD1|0.100987325|50.99%
View m21 14_15b68a 10 rs3740016
dbSNP Clinvar 		12131218 3585.77 C T . 0/1 350 SYNONYMOUS_CODING LOW SILENT 0.05092 0.05092 0.09057 None None None None None None DHTKD1|0.100987325|50.99%
View m21 14_15b68a 10 rs1615510
dbSNP Clinvar 		12148286 6320.77 T C . 1/1 249 SYNONYMOUS_CODING LOW SILENT 0.96406 0.96410 0.04052 None None None None None None DHTKD1|0.100987325|50.99%
View m21 14_15b68a 10 rs1722462
dbSNP Clinvar 		12149939 1872.77 C T . 0/1 221 SYNONYMOUS_CODING LOW SILENT 0.90316 0.90320 0.13763 None None None None None None DHTKD1|0.100987325|50.99%
View m21 14_15b68a 10 rs3740015
dbSNP Clinvar 		12131081 2577.77 T G . 0/1 287 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48443 0.48440 0.48009 1.00 0.00 None None None None None None DHTKD1|0.100987325|50.99%
View m21 14_15b68a 10 rs1279138
dbSNP Clinvar 		12111090 7352.77 T C . 1/1 295 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97025 0.97020 0.03252 1.00 0.00 None None None None None None DHTKD1|0.100987325|50.99%

DNMT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 19 rs2228611
dbSNP Clinvar 		10267077 983.77 T C . 0/1 151 SYNONYMOUS_CODING LOW SILENT 0.53395 0.53390 0.49116 None None None None None None DNMT1|0.310637593|26.78%
View m21 14_15b68a 19 rs721186
dbSNP Clinvar 		10265312 9606.77 T C . 1/1 376 SYNONYMOUS_CODING LOW SILENT 0.99581 0.99580 0.01030 None None None None None None DNMT1|0.310637593|26.78%

DST
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 6 rs4715631
dbSNP Clinvar 		56417545 4206.77 T C . 0/1 430 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66214 0.66210 0.31700 1.00 0.00 None None None None None None DST|0.807318345|5.62%
View m21 14_15b68a 6 rs41271864
dbSNP Clinvar 		56376091 5114.77 C T . 0/1 513 SYNONYMOUS_CODING LOW SILENT 0.01438 0.01438 0.04171 None None None None None None DST|0.807318345|5.62%
View m21 14_15b68a 6 rs4715630
dbSNP Clinvar 		56417282 4386.77 C T . 0/1 488 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79153 0.79150 0.20565 0.41 0.00 None None None None None None DST|0.807318345|5.62%
View m21 14_15b68a 6 rs2230862
dbSNP Clinvar 		56484758 14024.77 C T . 1/1 550 None None None 0.33646 0.33650 0.42304 None None None None None None DST|0.807318345|5.62%
View m21 14_15b68a 6 rs4712138
dbSNP Clinvar 		56463410 9043.77 T C . 1/1 361 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32828 0.32830 0.38105 0.17 0.00 None None None None None None DST|0.807318345|5.62%
View m21 14_15b68a 6 rs6459166
dbSNP Clinvar 		56482801 8919.77 C G . 1/1 350 None None None 0.40176 0.40180 0.46925 1.00 0.00 None None None None None None DST|0.807318345|5.62%
View m21 14_15b68a 6 rs11756977
dbSNP Clinvar 		56420538 3812.77 C T . 0/1 438 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33546 0.33550 0.31166 0.27 0.00 None None None None None None DST|0.807318345|5.62%

DYNC1H1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 14 rs12893215
dbSNP Clinvar 		102463407 3185.77 A G . 0/1 428 SYNONYMOUS_CODING LOW SILENT 0.20168 0.20170 0.15508 None None None None None None DYNC1H1|0.285436253|28.69%
View m21 14_15b68a 14 rs8010870
dbSNP Clinvar 		102493761 4097.77 A G . 0/1 479 SYNONYMOUS_CODING LOW SILENT 0.19469 0.19470 0.14747 None None None None None None DYNC1H1|0.285436253|28.69%
View m21 14_15b68a 14 rs3818188
dbSNP Clinvar 		102446161 3702.77 G A . 0/1 405 SYNONYMOUS_CODING LOW SILENT 0.20847 0.20850 0.14301 None None None None None None DYNC1H1|0.285436253|28.69%
View m21 14_15b68a 14 rs13749
dbSNP Clinvar 		102514227 5163.77 T C . 0/1 545 SYNONYMOUS_CODING LOW SILENT 0.34724 0.34720 0.30363 None None None None None None DYNC1H1|0.285436253|28.69%
View m21 14_15b68a 14 rs34690489
dbSNP Clinvar 		102466430 4494.77 G A . 0/1 524 SYNONYMOUS_CODING LOW SILENT 0.01138 0.01138 0.01599 None None None None None None DYNC1H1|0.285436253|28.69%

ECEL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 2 rs1529874
dbSNP Clinvar 		233349588 6088.77 G A . 1/1 242 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96266 0.96270 0.04198 1.00 0.00 None None None None None None ECEL1|0.739911148|7.37%
View m21 14_15b68a 2 rs41265123
dbSNP Clinvar 		233348851 4337.77 C G . 0/1 465 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00499 0.00499 0.01545 0.22 0.52 None None None None None None ECEL1|0.739911148|7.37%

EGR2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 10 rs224083
dbSNP Clinvar 		64573771 10942.77 C T . 1/1 438 SYNONYMOUS_CODING LOW SILENT 0.98602 0.98600 0.01784 None None None None None None EGR2|0.760074742|6.85%

FAM134B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 5 rs162848
dbSNP Clinvar 		16478200 1473.77 G A . 0/1 189 SYNONYMOUS_CODING LOW SILENT 0.67752 0.67750 0.26937 None None None None None None FAM134B|0.118709498|47.64%

FBLN5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 14 rs2430347
dbSNP Clinvar 		92347680 3492.77 A G . 0/1 384 SYNONYMOUS_CODING LOW SILENT 0.78494 0.78490 0.24320 None None None None None None FBLN5|0.395983413|21.02%

FBXO38
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 5 rs74863106
dbSNP Clinvar 		147778631 3241.77 A G . 0/1 302 SYNONYMOUS_CODING LOW SILENT 0.03754 0.03754 0.00777 None None None None None None FBXO38|0.376894214|22.27%

FGD4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 12 rs904582
dbSNP Clinvar 		32735236 5427.77 C T . 0/1 611 SYNONYMOUS_CODING LOW SILENT 0.00839 0.00839 0.49892 None None None None None None FGD4|0.105322897|50.19%

GAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 16 rs2608555
dbSNP Clinvar 		81398635 2199.77 C T . 0/1 238 SYNONYMOUS_CODING LOW SILENT 0.15116 0.15120 0.22978 None None None None None None GAN|0.138066353|44.7%

GARS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 7 rs1049402
dbSNP Clinvar 		30634661 6673.77 C G . 1/1 271 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64936 0.64940 0.26012 0.87 0.00 None None None None None None GARS|0.43596749|18.9%

GATA3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 10 rs2229359
dbSNP Clinvar 		8100647 2336.77 C T . 0/1 286 SYNONYMOUS_CODING LOW SILENT 0.02037 0.02037 0.05498 None None None None None None GATA3|0.920039211|2.99%

GDAP1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 8 rs7828201
dbSNP Clinvar 		75262798 12151.77 G C . 1/1 491 SYNONYMOUS_CODING LOW SILENT 0.99561 0.99560 None None None None None None GDAP1|0.422399807|19.49%

GLDN
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 15 rs17648128
dbSNP Clinvar 		51689772 1403.77 G A . 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29932 0.29930 0.29997 1.00 0.00 None None None None None None GLDN|0.083381718|54.53%

GNA11
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 19 rs4900
dbSNP Clinvar 		3119239 3194.77 C T . 0/1 359 SYNONYMOUS_CODING LOW SILENT 0.34884 0.34880 0.38221 None None None None None None GNA11|0.177158736|39.4%

GNAS
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 20 rs7121
dbSNP Clinvar 		57478807 6428.77 C T . 0/1 652 SYNONYMOUS_CODING LOW SILENT 0.64437 0.64440 0.42058 None None None None None None GNAS|0.689085503|8.83%

GNB4
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 3 rs1078749
dbSNP Clinvar 		179143941 1270.77 A G . 0/1 155 SYNONYMOUS_CODING LOW SILENT 0.02316 0.02316 0.03552 None None None None None None GNB4|0.235260373|32.89%

GPR126
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 6 rs11155242
dbSNP Clinvar 		142691549 2972.77 A C . 0/1 327 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19649 0.19650 0.19813 0.43 0.02 None None None None None None ADGRG6|0.153134359|42.51%
View m21 14_15b68a 6 rs1262686
dbSNP Clinvar 		142758631 5481.77 A G . 1/1 218 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99960 0.99960 0.00177 1.00 0.00 None None None None None None ADGRG6|0.153134359|42.51%
View m21 14_15b68a 6 rs989946
dbSNP Clinvar 		142718801 4712.77 G A . 1/1 190 SYNONYMOUS_CODING LOW SILENT 0.99661 0.99660 0.00509 None None None None None None ADGRG6|0.153134359|42.51%

HADHB
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 2 rs1064793144
dbSNP Clinvar 		26477125 5355.73 G GACT . 0/1 301 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.70947 0.70950 0.08686 None None None None None None HADHB|0.207953227|35.81%

HK1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 10 rs906220
dbSNP Clinvar 		71060610 6312.77 A G . 1/1 248 None None None 0.90635 0.90630 0.10280 0.68 0.01 None None None None None None HK1|0.110453712|49.13%
View m21 14_15b68a 10 rs1133189
dbSNP Clinvar 		71103597 1626.77 C G . 0/1 187 SYNONYMOUS_CODING LOW SILENT 0.28335 0.28330 0.37621 None None None None None None HK1|0.110453712|49.13%
View m21 14_15b68a 10 rs748235
dbSNP Clinvar 		71142420 9407.77 G A . 1/1 369 SYNONYMOUS_CODING LOW SILENT 0.77875 0.77880 0.17992 None None None None None None HK1|0.110453712|49.13%

HSPB3
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 5 rs7699
dbSNP Clinvar 		53751901 7756.77 G A . 1/1 307 SYNONYMOUS_CODING LOW SILENT 0.48263 0.48260 0.44526 None None None None None None HSPB3|0.055815155|60.97%
View m21 14_15b68a 5 rs7823
dbSNP Clinvar 		53751988 7317.77 T C . 1/1 291 SYNONYMOUS_CODING LOW SILENT 0.57788 0.57790 0.33969 None None None None None None HSPB3|0.055815155|60.97%

IARS2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 1 rs78770848
dbSNP Clinvar 		220298664 1896.77 A G . 0/1 183 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05152 0.05152 0.03214 1.00 0.00 None None None None None None IARS2|0.202143958|36.52%

IGHMBP2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 11 rs622082
dbSNP Clinvar 		68703959 6039.77 A G . 0/1 554 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24621 0.24620 0.24677 1.00 0.00 None None None None None None IGHMBP2|0.010106738|80.78%
View m21 14_15b68a 11 rs560096
dbSNP Clinvar 		68678962 4304.77 T C . 0/1 432 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68051 0.68050 0.22144 1.00 0.00 None None None None None None IGHMBP2|0.010106738|80.78%
View m21 14_15b68a 11 rs1249463
dbSNP Clinvar 		68671477 3097.77 T C . 0/1 341 SYNONYMOUS_CODING LOW SILENT 0.67512 0.67510 0.21239 None None None None None None IGHMBP2|0.010106738|80.78%
View m21 14_15b68a 11 rs546382
dbSNP Clinvar 		68704264 6299.77 C T . 0/1 611 SYNONYMOUS_CODING LOW SILENT 0.24621 0.24620 0.24761 None None None None None None IGHMBP2|0.010106738|80.78%

IKBKAP
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 9 rs1063110
dbSNP Clinvar 		111653574 8793.77 C G . 1/1 347 SYNONYMOUS_CODING LOW SILENT 0.00120 0.31550 0.33892 None None None None None None IKBKAP|0.877129195|4.04%

INF2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 14 rs4983535
dbSNP Clinvar 		105180565 3643.77 T C . 0/1 400 SYNONYMOUS_CODING LOW SILENT 0.84425 0.84420 0.20247 None None None None None None INF2|0.011319835|79.76%
View m21 14_15b68a 14 rs4983530
dbSNP Clinvar 		105167807 10760.77 C T . 1/1 411 SYNONYMOUS_CODING LOW SILENT 0.98662 0.98660 0.01773 None None None None None None INF2|0.011319835|79.76%
View m21 14_15b68a 14 rs1128840
dbSNP Clinvar 		105180706 12427.77 A G . 1/1 483 SYNONYMOUS_CODING LOW SILENT 0.20967 0.69490 0.35022 None None None None None None INF2|0.011319835|79.76%
View m21 14_15b68a 14 rs10133301
dbSNP Clinvar 		105179194 11419.77 T C . 1/1 446 SYNONYMOUS_CODING LOW SILENT 0.90935 0.90930 0.11970 None None None None None None INF2|0.011319835|79.76%
View m21 14_15b68a 14 rs775646511,rs886050380
dbSNP Clinvar 		105173862 1102.73 AC... A . 0/1 49 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None INF2|0.011319835|79.76%
View m21 14_15b68a 14 rs201383094
dbSNP Clinvar 		105167739 2770.77 G A . 0/1 364 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00016 0.04 0.98 None None None None None None INF2|0.011319835|79.76%
View m21 14_15b68a 14 rs34251364
dbSNP Clinvar 		105180785 5095.77 C T . 0/1 475 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04573 0.04573 0.05836 0.03 0.05 None None None None None None INF2|0.011319835|79.76%

KARS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 16 rs5030748
dbSNP Clinvar 		75675609 4713.77 T C . 0/1 475 SYNONYMOUS_CODING LOW SILENT 0.02975 0.02975 0.08126 None None None None None None KARS|0.939114872|2.51%

KIF1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View m21 14_15b68a 1 rs11121552
dbSNP Clinvar 		10435324 13195.77 C A . 1/1 523 SYNONYMOUS_CODING LOW SILENT 0.23163 0.23160 0.23051 None None None None None None KIF1B|0.70541308|8.35%