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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA3, AC011239.1, ADNP2, AL049840.1, ANKRD60, ARHGAP23, ASIC3, ATP2B3, BCL11A, BRCA1, BRCA2, C7orf50, C9orf96, CARS2, CCDC155, CDC42EP4, CELSR2, CEP104, CFTR, CHRND, COL13A1, DAB2IP, DES, EPHB4, FBLN2, FLNB, GAS2L1, GCA, GNAQ, HARBI1, HID1, HMHA1, IL12RB1, IL17REL, IRF4, ITIH4, KCNQ1, KIR2DL4, KNDC1, KPNA3, LATS2, LRRK1, LTBP2, MAP10, MCM3AP, MEGF6, MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NAV1, NIPBL, NLGN3, NR0B1, OBSCN, OR6J1, PACSIN3, POLR1C, PROM2, RP1L1, RRP12, SCN5A, SEMA4B, SETX, SGCA, SH2D3C, SH3BP2, SLC25A47, STAC2, SYNE2, TERT, THBS2, TNS1, TRAF7, XPO1, ZMYND15, ZNF410,

+ Genes associated with diseases 34

Genes at Omim

ABCA3, ATP2B3, BCL11A, BRCA1, BRCA2, CARS2, CEP104, CFTR, CHRND, COL13A1, DES, EPHB4, FLNB, GNAQ, IL12RB1, IRF4, ITIH4, KCNQ1, LTBP2, MCM3AP, NIPBL, NLGN3, NR0B1, POLR1C, RP1L1, SCN5A, SETX, SGCA, SH3BP2, SYNE2, TERT, THBS2, TRAF7, ZMYND15,

ABCA3	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ATP2B3	?Spinocerebellar ataxia, X-linked 1, 302500 (3)
BCL11A	Dias-Logan syndrome, 617101 (3)
BRCA1	Fanconi anemia, complementation group S, 617883 (3) {Pancreatic cancer, susceptibility to, 4}, 614320 (3) {Breast-ovarian cancer, familial, 1}, 604370 (3)
BRCA2	Fanconi anemia, complementation group D1, 605724 (3) {Glioblastoma 3}, 613029 (3) {Medulloblastoma}, 155255 (3) {Pancreatic cancer 2}, 613347 (3) {Prostate cancer}, 176807 (3) Wilms tumor, 194070 (3) {Breast cancer, male, susceptibility to}, 114480 (3) {Breast-ovarian cancer, familial, 2}, 612555 (3)
CARS2	Combined oxidative phosphorylation deficiency 27, 616672 (3)
CEP104	Joubert syndrome 25, 616781 (3)
CFTR	{Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3) {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CHRND	Multiple pterygium syndrome, lethal type, 253290 (3) Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3) ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3) ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3)
COL13A1	Myasthenic syndrome, congenital, 19, 616720 (3)
DES	Cardiomyopathy, dilated, 1I, 604765 (3) Myopathy, myofibrillar, 1, 601419 (3) Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)
EPHB4	Capillary malformation-arteriovenous malformation 2, 618196 (3) Lymphatic malformation 7, 617300 (3)
FLNB	Atelosteogenesis, type I, 108720 (3) Atelosteogenesis, type III, 108721 (3) Boomerang dysplasia, 112310 (3) Larsen syndrome, 150250 (3) Spondylocarpotarsal synostosis syndrome, 272460 (3)
GNAQ	Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3) Sturge-Weber syndrome, somatic, mosaic, 185300 (3)
IL12RB1	Immunodeficiency 30, 614891 (3)
IRF4	[Skin/hair/eye pigmentation, variation in, 8], 611724 (3)
ITIH4	{Hypercholesterolemia, susceptibility to}, 143890 (3)
KCNQ1	Atrial fibrillation, familial, 3, 607554 (3) {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3) Long QT syndrome 1, 192500 (3) Jervell and Lange-Nielsen syndrome, 220400 (3) Short QT syndrome 2, 609621 (3)
LTBP2	Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MCM3AP	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
NIPBL	Cornelia de Lange syndrome 1, 122470 (3)
NLGN3	{Asperger syndrome susceptibility, X-linked 1}, 300494 (3) {Autism susceptibility, X-linked 1}, 300425 (3)
NR0B1	Adrenal hypoplasia, congenital, 300200 (3) 46XY sex reversal 2, dosage-sensitive, 300018 (3)
POLR1C	Leukodystrophy, hypomyelinating, 11, 616494 (3) Treacher Collins syndrome 3, 248390 (3)
RP1L1	Occult macular dystrophy, 613587 (3)
SCN5A	Atrial fibrillation, familial, 10, 614022 (3) Brugada syndrome 1, 601144 (3) Cardiomyopathy, dilated, 1E, 601154 (3) Heart block, nonprogressive, 113900 (3) Heart block, progressive, type IA, 113900 (3) Long QT syndrome-3, 603830 (3) {Sudden infant death syndrome, susceptibility to}, 272120 (3) Sick sinus syndrome 1, 608567 (3) Ventricular fibrillation, familial, 1, 603829 (3)
SETX	Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SGCA	Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3)
SH3BP2	Cherubism, 118400 (3)
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TERT	{Leukemia, acute myeloid}, 601626 (3) {Melanoma, cutaneous malignant, 9}, 615134 (3) {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3) {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3) {Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
THBS2	{Lumbar disc herniation, susceptibility to}, 603932 (3)
TRAF7	Cardiac, facial, and digital anomalies with developmental delay, 618164 (3)
ZMYND15	?Spermatogenic failure 14, 615842 (3)

Genes at Clinical Genomics Database

ABCA3, ATP2B3, BCL11A, BRCA1, BRCA2, CARS2, CFTR, CHRND, COL13A1, DES, FLNB, IL12RB1, IRF4, KCNQ1, LTBP2, MT-ATP6, MT-CO1, MT-CO3, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NIPBL, NLGN3, NR0B1, POLR1C, RP1L1, SCN5A, SETX, SGCA, SH3BP2, SYNE2, TERT, ZMYND15,

ABCA3	Surfactant metabolism dysfunction, pulmonary, 3 Interstitial lung disease
ATP2B3	Spinocerebellar ataxia, X-linked 1
BCL11A	Severe speech sound disorder
BRCA1	Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4
BRCA2	Breast-ovarian cancer, familial, susceptibility to Pancreatic cancer, susceptibility to, 2 Glioma susceptibility 3 Fanconi anemia, complementation group D1 Wilms tumor Medulloblastoma
CARS2	Combined oxidative phosphorylation deficiency 27
CFTR	Cystic fibrosis
CHRND	Myasthenic syndrome, congenital, fast channel Myasthenic syndrome,congenital, slow-channel Myasthenic syndrome, congenital, 3C
COL13A1	Myasthenic syndrome, congenital, 19
DES	Myopathy, myofibrillar 1 Cardiomyopathy, dilated, 1I
FLNB	Larsen syndrome Spondylocarpotarsal synostosis syndrome Boomerang dysplasia Atelosteogenesis, type I Atelosteogenesis, type III
IL12RB1	Immunodeficiency 30
IRF4	Skin/hair/eye pigmentation, variation in, 8
KCNQ1	Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome 2 Atrial fibrillation, familial 3
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
MT-ATP6	Myopathy, lactic acidosis, and sideroblastic anemia 3
MT-CO1	Deafness, mitochondrial
MT-CO3	Myoglobinuria, recurrent
MT-ND2	Leber hereditary optic neuropathy Mitochondrial complex I deficiency
MT-ND3	Leber optic atrophy and dystonia Mitochondrial complex I deficiency
MT-ND4	Leber hereditary optic neuropathy Leber optic atrophy and dystonia Mitochondrial complex I deficiency
MT-ND5	Myoclonic epilepsy with ragged red fibers Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Leber hereditary optic neuropathy Mitochondrial complex I deficiency
MT-ND6	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Oncocytoma Leber hereditary optic neuropathy Leber optic atrophy and dystonia Mitochondrial complex I deficiency
NIPBL	Cornelia de Lange syndrome 1
NLGN3	Asperger syndrome, X-linked 1 Autism, X-linked 1
NR0B1	Adrenal hypoplasia, congenital 46,XY sex reversal 2
POLR1C	Treacher Collins syndrome 3
RP1L1	Occult macular dystrophy Retinitis pigmentosa, autosomal recessive
SCN5A	Atrial fibrillation, familial 10 Long QT syndrome 3 Idiopathic ventricular fibrillation Heart block, progressive, type IA Heart block, nonprogressive Sick sinus syndrome 1, autosomal recessive Cardiomyopathy, dilated, 1E Brugada syndrome 1 Ventricular fibrillation, familial 1
SETX	Spinocerebellar ataxia, autosomal recessive 1 Amyotrophic lateral sclerosis 4, juvenile Ataxia with oculomotor apraxia, type 2
SGCA	Muscular dystrophy, limb-girdle, type 2D
SH3BP2	Cherubism
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TERT	Aplastic anemia Dyskeratosis congenita, autosomal dominant Dyskeratosis congenita, autosomal recessive Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
ZMYND15	Spermatogenic failure 14

Genes at HGMD

Summary

Number of Variants: 171
Number of Genes: 82

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ABCA3
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	21_s21	16	.	2328440	45.48	G	A	LowVariantFreq	0/1	25	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABCA3\|0.043607901\|64.64%
	View	21_s21	16	.	2328445	47.91	C	G	LowVariantFreq	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	1.00		None None	None None None None	ABCA3\|0.043607901\|64.64%
AC011239.1
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	21_s21	2	.	23730100	3.52	A	G	LowGQX	0/1	2	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
ADNP2
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	21_s21	18	.	77894342	14.92	C	T	LowGQX;LowGQ	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.01		None None	None None None None	ADNP2\|0.014262869\|77.65%
	View	21_s21	18	.	77894581	10.43	G	A	LowGQX;LowGQ	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.38	0.99		None None	None None None None	ADNP2\|0.014262869\|77.65%
AL049840.1
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	21_s21	14	.	104177788	353.04	C	T	PASS	1/1	14	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	XRCC3\|0.02048833\|73.92%
ANKRD60
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	21_s21	20	.	56796510	4.25	G	A	LowGQX	0/1	4	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	1.00		None None	None None None None	ANKRD60\|0.001529196\|92.64%
ARHGAP23
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	21_s21	17	.	36623087	14.92	G	A	LowGQX;LowGQ	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.31	0.00		None None	None None None None	ARHGAP23\|0.124657713\|46.71%
ASIC3
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	21_s21	7	.	150746102	84.99	A	G	LowGQX;LowGQ	1/1	5	NON_SYNONYMOUS_CODING	MODERATE	None				0.05	0.00		None None	None None None None	ASIC3\|0.064485136\|58.73%
ATP2B3
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	21_s21	X	.	152845610	58.29	G	A	LowGQX;LowGQ	1/1	4	NON_SYNONYMOUS_CODING	MODERATE	None				0.27	0.01		None None	None None None None	ATP2B3\|0.203946244\|36.25%
BCL11A
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	21_s21	2	.	60687850	7.78	G	T	LowGQX;LowGQ	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	BCL11A\|0.997484889\|0.61%
BRCA1
Omim - GeneCards - NCBI