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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ADAMTS2, ADRA2B, AFAP1L2, AGPAT2, AGTPBP1, AK5, AMOT, ANLN, ARHGEF17, ARID1B, ART5, ASCL1, ATXN1, ATXN3, BCL6B, BTN2A1, C12orf56, C21orf58, C8orf59, CACNA1F, CCDC180, CCDC66, CDK11A, CDRT4, CELSR2, CENPV, CPS1, CTBP2, DCHS2, DCP1B, DDHD1, DIAPH1, EOMES, FAM120C, FAM187A, FAM46A, FMO2, FOXD2, GDF15, GOLGA6L2, GPRIN2, GREB1L, GRIN2C, HDAC2, HOXA13, HSPBAP1, IGHJ6, IGSF3, KCNN3, KDM6B, KRT2, KRTAP4-3, KRTAP9-1, LATS2, LHCGR, LOR, LTF, LURAP1L, MAGEF1, MCC, MICALCL, MMRN2, MUC13, MUC3A, MUC4, MYO5B, NADK, NCOR2, NEFH, NOX4, PCDH12, PCLO, PDE11A, PRDM2, PRDM6, RALY, RBM23, RBMXL3, RPL29, RSPH6A, RTTN, SAAL1, SAMD4A, SERINC2, SGK223, SKIDA1, SPATA21, SSC5D, STK39, SYNJ1, SYPL2, TBC1D8, TMEM184A, TSPYL1, TTLL11, USP26, USP40, VEZF1, ZFHX3, ZNF579, ZNF714, ZNF772, ZNF814, ZNF816, ZNF880,

+ Genes associated with diseases 30

Genes at Omim

ADAMTS2, ADRA2B, AGPAT2, AGTPBP1, ANLN, ARID1B, ASCL1, ATXN1, ATXN3, CACNA1F, CPS1, DDHD1, DIAPH1, GREB1L, HOXA13, IGSF3, KRT2, LHCGR, LOR, MCC, MYO5B, NEFH, PCDH12, PCLO, PDE11A, PRDM6, RTTN, SYNJ1, TSPYL1, ZFHX3,

ADAMTS2	Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADRA2B	Epilepsy, myoclonic, familial adult, 2, 607876 (3)
AGPAT2	Lipodystrophy, congenital generalized, type 1, 608594 (3)
AGTPBP1	Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (3)
ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
ARID1B	Coffin-Siris syndrome 1, 135900 (3)
ASCL1	Central hypoventilation syndrome, congenital, 209880 (3) Haddad syndrome, 209880 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
ATXN3	Machado-Joseph disease, 109150 (3)
CACNA1F	Aland Island eye disease, 300600 (3) Cone-rod dystrophy, X-linked, 3, 300476 (3) Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
CPS1	Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3)
DDHD1	Spastic paraplegia 28, autosomal recessive, 609340 (3)
DIAPH1	Deafness, autosomal dominant 1, 124900 (3) Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
GREB1L	Renal hypodysplasia/aplasia 3, 617805 (3)
HOXA13	Guttmacher syndrome, 176305 (3) Hand-foot-uterus syndrome, 140000 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
KRT2	Ichthyosis bullosa of Siemens, 146800 (3)
LHCGR	Leydig cell adenoma, somatic, with precocious puberty, 176410 (3) Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3) Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3) Luteinizing hormone resistance, female, 238320 (3) Precocious puberty, male, 176410 (3)
LOR	Vohwinkel syndrome with ichthyosis, 604117 (3)
MCC	Colorectal cancer, somatic, 114500 (3)
MYO5B	Microvillus inclusion disease, 251850 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE11A	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PRDM6	Patent ductus arteriosus 3, 617039 (3)
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SYNJ1	Epileptic encephalopathy, early infantile, 53, 617389 (3) Parkinson disease 20, early-onset, 615530 (3)
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
ZFHX3	Prostate cancer, somatic, 176807 (3)

Genes at Clinical Genomics Database

ADAMTS2, AGPAT2, ANLN, ARID1B, ASCL1, ATXN1, ATXN3, CACNA1F, CPS1, DIAPH1, HOXA13, IGSF3, KRT2, LHCGR, LOR, MYO5B, NEFH, PDE11A, RTTN, TSPYL1,

ADAMTS2	Ehlers-Danlos syndrome, type VII
AGPAT2	Lipodystrophy, congenital generalized, type 1
ANLN	Focal segmental glomerulosclerosis 8
ARID1B	Mental retardation, autosomal dominant, 12 Coffin-Siris syndrome 1
ASCL1	Central hypoventilation syndrome, congenital (Haddad syndrome)
ATXN1	Spinocerebellar ataxia 1
ATXN3	Spinocerebellar ataxia 3 (Machado-Joseph disease)
CACNA1F	Aland Island eye disease Cone-rod dystrophy, X-linked, 3 Night blindness, congenital stationary, X-linked, type 2A
CPS1	Carbamoylphosphate synthetase I deficiency
DIAPH1	Deafness, autosomal dominant 1
HOXA13	Hand-foot-genital syndrome Guttmacher syndrome Hand-foot-uterus syndrome
IGSF3	Lacrimal duct defect
KRT2	Ichthyosis bullosa of Siemens Ichthyosis exfoliativa
LHCGR	Leydig cell hypoplasia type I Leydig cell hypoplasia type II Luteinizing hormone resistance, female Precocious puberty, male
LOR	Vohwinkel syndrome, variant form
MYO5B	Diarrhea 2, with microvillus atrophy
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
RTTN	Microcephaly, short stature, and polymicrogyria with or without seizures
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome 46, XY disorder of sex development

Genes at HGMD

Summary

Number of Variants: 186
Number of Genes: 105

Export to: CSV

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ADAMTS2
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	62644690_s62 bcfc filt pass	5	.	178772250	217.468	ag...	aG...	PASS	0/1	80	CODON_INSERTION	MODERATE								None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	62644690_s62 bcfc filt pass	5	.	178772257	208.468	gcg	gC...	PASS	0/1	70	CODON_INSERTION	MODERATE								None None	None None None None	ADAMTS2\|0.325728261\|25.76%
ADRA2B
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	62644690_s62 bcfc filt pass	2	.	96780987	217.468	tcc	tC...	PASS	0/1	96	CODON_INSERTION	MODERATE								None None	None None None None	ADRA2B\|0.088340463\|53.59%
	View	62644690_s62 bcfc filt pass	2	.	96780986	214.458	ct...	cT...	PASS	1/1	121	CODON_INSERTION	MODERATE								None None	None None None None	ADRA2B\|0.088340463\|53.59%
	View	62644690_s62 bcfc filt pass	2	.	96780994	214.458	cttc	cT...	PASS	1/1	105	CODON_INSERTION	MODERATE								None None	None None None None	ADRA2B\|0.088340463\|53.59%
	View	62644690_s62 bcfc filt pass	2	.	96780989	214.458	ct...	cT...	PASS	1/1	100	CODON_INSERTION	MODERATE								None None	None None None None	ADRA2B\|0.088340463\|53.59%
AFAP1L2
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	62644690_s62 bcfc filt pass	10	.	116085784	217.468	CC	CCCGC	PASS	0/1	45	CODON_INSERTION	MODERATE								None None	None None None None	AFAP1L2\|0.092781823\|52.66%
AGPAT2
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	62644690_s62 bcfc filt pass	9	.	139581758	217.468	cc...	cC...	PASS	0/1	43	CODON_INSERTION	MODERATE								None None	None None None None	AGPAT2\|0.018792809\|74.8%
AGTPBP1
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	62644690_s62 bcfc filt pass	9	.	88356841	116.467	cg...	cG...	PASS	0/1	33	CODON_INSERTION	MODERATE								None None	None None None None	AGTPBP1\|0.262515075\|30.52%
AK5
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	62644690_s62 bcfc filt pass	1	.	78024345	214.458	CTATT	CT...	PASS	1/1	43	CODON_INSERTION	MODERATE								None None	None None None None	AK5\|0.166834889\|40.71%
AMOT
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	62644690_s62 bcfc filt pass	X	.	112022297	217.468	CAGGA	CA...	PASS	0/1	132	CODON_INSERTION	MODERATE								None None	None None None None	AMOT\|0.349674275\|24.15%
ANLN
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	62644690_s62 bcfc filt pass	7	.	36447349	214.458	AC...	AC...	PASS	1/1	25	CODON_INSERTION	MODERATE								None None	None None None None	ANLN\|0.180116375\|39.04%
ARHGEF17
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	62644690_s62 bcfc filt pass	11	.	73020375	217.468	GC...	GC...	PASS	0/1	68	CODON_INSERTION	MODERATE								None None	None None None None	ARHGEF17\|0.03247462\|68.39%