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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABHD3, ADCYAP1, ADNP2, AFG3L2, ALPK2, ANKRD29, ANKRD30B, ANKRD62, AP005482.1, APCDD1, ATP8B1, ATP9B, BCL2, CABYR, CBLN2, CCBE1, CCDC178, CDH20, CEP192, CIDEA, CNDP1, COLEC12, CTAGE1, CTDP1, DCC, DLGAP1, DOK6, DSC3, DSG1, DSG2, DSG4, DYNAP, ELP2, EPG5, ESCO1, FAM210A, FAM69C, FECH, FHOD3, GALR1, GREB1L, HRH4, KATNAL2, KCTD1, L3MBTL4, LAMA1, LAMA3, LDLRAD4, LIPG, LMAN1, LOXHD1, MBD1, MEP1B, METTL4, MOCOS, MYO5B, MYOM1, NDUFV2, NPC1, ONECUT2, PHLPP1, PIEZO2, PIGN, PMAIP1, PQLC1, PTPRM, RBFA, RIOK3, RP11-683L23.1, RTTN, SERPINB10, SERPINB11, SERPINB3, SERPINB5, SETBP1, SLC14A1, SLC14A2, SLC39A6, SMAD4, SOCS6, SOGA2, SS18, TCEB3B, TCEB3C, TCF4, TGIF1, TMEM241, TNFRSF11A, TSHZ1, TXNDC2, USP14, WDR7, ZADH2, ZBTB7C, ZNF236, ZNF24, ZNF407,

+ Genes associated with diseases 36

Genes at Omim

AFG3L2, APCDD1, ATP8B1, BCL2, CCBE1, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, ELP2, EPG5, FECH, GREB1L, KCTD1, LAMA1, LAMA3, LMAN1, LOXHD1, MOCOS, MYO5B, NDUFV2, NPC1, NPC1, PIEZO2, PIGN, RTTN, SETBP1, SLC14A1, SMAD4, SS18, TCF4, TGIF1, TNFRSF11A, TSHZ1,

AFG3L2	Spastic ataxia 5, autosomal recessive, 614487 (3) Spinocerebellar ataxia 28, 610246 (3)
APCDD1	Hypotrichosis 1, 605389 (3)
ATP8B1	Cholestasis, benign recurrent intrahepatic, 243300 (3) Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BCL2	Leukemia/lymphoma, B-cell, 2 (3)
CCBE1	Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
DCC	Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3) Colorectal cancer, somatic, 114500 (3) Esophageal carcinoma, somatic, 133239 (3) Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DSC3	?Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG1	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3) Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG2	Arrhythmogenic right ventricular dysplasia 10, 610193 (3) Cardiomyopathy, dilated, 1BB, 612877 (3)
DSG4	Hypotrichosis 6, 607903 (3)
ELP2	Mental retardation, autosomal recessive 58, 617270 (3)
EPG5	Vici syndrome, 242840 (3)
FECH	Protoporphyria, erythropoietic, 1, 177000 (3)
GREB1L	Renal hypodysplasia/aplasia 3, 617805 (3)
KCTD1	Scalp-ear-nipple syndrome, 181270 (3)
LAMA1	Poretti-Boltshauser syndrome, 615960 (3)
LAMA3	Epidermolysis bullosa, generalized atrophic benign, 226650 (3) Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) Laryngoonychocutaneous syndrome, 245660 (3)
LMAN1	Combined factor V and VIII deficiency, 227300 (3)
LOXHD1	Deafness, autosomal recessive 77, 613079 (3)
MOCOS	Xanthinuria, type II, 603592 (3)
MYO5B	Microvillus inclusion disease, 251850 (3)
NDUFV2	Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NPC1	{Nasopharyngeal carcinoma 1} (2)
NPC1	Niemann-Pick disease, type C1, 257220 (3) Niemann-Pick disease, type D, 257220 (3)
PIEZO2	Arthrogryposis, distal, type 3, 114300 (3) Arthrogryposis, distal, type 5, 108145 (3) Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3) ?Marden-Walker syndrome, 248700 (3)
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SETBP1	Mental retardation, autosomal dominant 29, 616078 (3) Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC14A1	[Blood group, Kidd], 111000 (3)
SMAD4	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3) Myhre syndrome, 139210 (3) Pancreatic cancer, somatic, 260350 (3) Polyposis, juvenile intestinal, 174900 (3)
SS18	Sarcoma, synovial (1)
TCF4	Corneal dystrophy, Fuchs endothelial, 3, 613267 (3) Pitt-Hopkins syndrome, 610954 (3)
TGIF1	Holoprosencephaly 4, 142946 (3)
TNFRSF11A	{Paget disease of bone 2, early-onset}, 602080 (3) Osteolysis, familial expansile, 174810 (3) Osteopetrosis, autosomal recessive 7, 612301 (3)
TSHZ1	Aural atresia, congenital, 607842 (3)

Genes at Clinical Genomics Database

AFG3L2, APCDD1, ATP8B1, CCBE1, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, LAMA1, LAMA3, LMAN1, LOXHD1, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RTTN, SETBP1, SLC14A1, SMAD4, TCF4, TGIF1, TNFRSF11A, TSHZ1,

AFG3L2	Spinocerebellar ataxia 28 Spastic ataxia 5, autosomal recessive
APCDD1	Hypotrichosis 1
ATP8B1	Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy
CCBE1	Hennekam lymphangiectasia-lymphedema syndrome
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy
DCC	Mirror movements 1
DSC3	Hypotrichosis and recurrent skin vesicles
DSG1	Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG2	Cardiomyopathy, dilated, 1BB Arrhythmogenic right ventricular dysplasia, familial, 10
DSG4	Hypotrichosis 6
EPG5	Vici syndrome
FECH	Protoporphyria, erythropoietic
LAMA1	Poretti-Boltshauser syndrome
LAMA3	Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign
LMAN1	Combined factor V and VIII deficiency
LOXHD1	Deafness, autosomal recessive 77
MYO5B	Diarrhea 2, with microvillus atrophy
NDUFV2	Mitochondrial complex I deficiency
NPC1	Niemann-Pick disease, type C1 Niemann-Pick disease, type D
PIEZO2	Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1
RTTN	Microcephaly, short stature, and polymicrogyria with or without seizures
SETBP1	Mental retardation, autosomal dominant 29 Schinzel-Giedion midface retraction syndrome
SLC14A1	Blood group, Kidd
SMAD4	Hereditary hemorrhagic telangiectasia, type 1 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Polyposis, juvenile intestinal Myhre syndrome
TCF4	Corneal dystrophy, Fuchs endothelial, 3 Pitt-Hopkins syndrome
TGIF1	Holoprosencephaly 4
TNFRSF11A	Familial expansile osteolysis Paget disease of bone 2, early-onset Osteopetrosis, autosomal recessive 7
TSHZ1	Aural atresia, congenital

Genes at HGMD

Summary

Number of Variants: 384
Number of Genes: 97

Export to: CSV

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ABHD3
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	15ac02302_s1 genome	18	.	19283631	9.8	G	T	LowGQ;LowGQX;SB	1/1	1	STOP_GAINED	HIGH	None							None None	None None None None	ABHD3\|0.175451093\|39.58%
ADCYAP1
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	15ac02302_s1 genome	18	rs2856966 dbSNP Clinvar	907710	2766.51	A	G	PASS	1/1	101	NON_SYNONYMOUS_CODING	MODERATE	None	0.14397	0.14400	0.17116	0.27	0.00		None None	None None None None	ADCYAP1\|0.147854671\|43.32%
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	15ac02302_s1 genome	18	.	77895063	14.92	C	A	LowGQ;LowGQX	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.63		None None	None None None None	ADNP2\|0.014262869\|77.65%
AFG3L2
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	15ac02302_s1 genome	18	rs11553521 dbSNP Clinvar	12348285	3377.08	T	C	PASS	1/1	123	SYNONYMOUS_CODING	LOW	None	0.70986	0.70990	0.22074				None None	None None None None	AFG3L2\|0.258891122\|30.83%
	View	15ac02302_s1 genome	18	rs11080572 dbSNP Clinvar	12351342	2622.77	C	T	PASS	1/1	85	SYNONYMOUS_CODING	LOW	None	0.62320	0.62320	0.31386				None None	None None None None	AFG3L2\|0.258891122\|30.83%
ALPK2
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	15ac02302_s1 genome	18	rs3809983 dbSNP Clinvar	56202768	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.33147	0.33150	0.41027	0.13	0.08		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	15ac02302_s1 genome	18	rs3809970 dbSNP Clinvar	56204991	7.08	C	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.40355	0.40360	0.49462	0.10	0.16		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	15ac02302_s1 genome	18	rs3826594 dbSNP Clinvar	56202982	9.8	A	T	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.67292	0.67290	0.31632				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	15ac02302_s1 genome	18	rs3826593 dbSNP Clinvar	56204747	9.8	G	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.79852	0.79850	0.15624	0.97	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	15ac02302_s1 genome	18	rs7240666 dbSNP Clinvar	56149099	14.92	T	C	LowGQ;LowGQX	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None	0.92153	0.92150	0.16754	1.00	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	15ac02302_s1 genome	18	rs3809971 dbSNP Clinvar	56204977	9.8	C	T	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.40415	0.40420	0.49470				None None	None None None None	ALPK2\|0.002935349\|88.74%
ANKRD29
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	15ac02302_s1 genome	18	.	21199531	4.97	C	A	LowGQX;SB	0/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.01		None None	None None None None	ANKRD29\|0.134611748\|45.15%
ANKRD30B
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	15ac02302_s1 genome	18	rs12386087 dbSNP Clinvar	14852335	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.96825	0.96830		0.37	0.00		None None	None None None None	ANKRD30B\|0.000995671\|95.47%
	View	15ac02302_s1 genome	18	.	14851905	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.92		None None	None None None None	ANKRD30B\|0.000995671\|95.47%
	View	15ac02302_s1 genome	18	.	14852448	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	STOP_GAINED	HIGH	None							None None	None None None None	ANKRD30B\|0.000995671\|95.47%
	View	15ac02302_s1 genome	18	.	14851928	14.92	C	A	LowGQ;LowGQX	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.39	0.07		None None	None None None None	ANKRD30B\|0.000995671\|95.47%
ANKRD62
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