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Genes:
AFAP1L2, ARHGEF17, ART5, ASCL1, ASPN, BAIAP2L2, BPTF, BTBD2, C12orf56, C16orf3, C19orf33, C8orf59, CACNA1A, CENPV, CPS1, DDHD1, DNLZ, EOMES, FAM187A, FAM83G, FAM98C, FOXD2, GOLGA6L2, GOLGA8R, GPRC6A, GPRIN2, GREB1L, GRIN2C, HRC, HSPBP1, KCNN3, KRT10, KRT3, KRT4, KRT76, KRTAP4-7, KRTAP9-1, LHCGR, LOR, LURAP1L, MADCAM1, MAGI1, MED15, MSH3, MUC13, NCOR2, NOX4, NR1H2, OR2T35, PDE11A, PIEZO1, POMC, PRDM2, PRDM6, RALY, RBMXL3, REXO1, RPL14, RPL29, RSPH6A, RTTN, SERINC2, SGK223, SKIDA1, SNAPC4, SPAG1, SSC5D, STK39, SYNJ1, TMEM184A, TSPYL1, TTLL11, ZFHX3, ZMYM5, ZNF354A, ZNF714, ZNF816,

+ Genes associated with diseases 22

Genes at Omim

ASCL1, ASPN, BPTF, CACNA1A, CPS1, DDHD1, GREB1L, KRT10, KRT3, KRT4, LHCGR, LOR, MSH3, PDE11A, PIEZO1, POMC, PRDM6, RTTN, SPAG1, SYNJ1, TSPYL1, ZFHX3,

ASCL1	Central hypoventilation syndrome, congenital, 209880 (3) Haddad syndrome, 209880 (3)
ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
BPTF	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)
CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (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)
GREB1L	Renal hypodysplasia/aplasia 3, 617805 (3)
KRT10	Epidermolytic hyperkeratosis, 113800 (3) Ichthyosis with confetti, 609165 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
KRT3	Meesmann corneal dystrophy, 122100 (3)
KRT4	White sponge nevus 1, 193900 (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)
MSH3	Endometrial carcinoma, somatic, 608089 (3) Familial adenomatous polyposis 4, 617100 (3)
PDE11A	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3) Lymphatic malformation 6, 616843 (3)
POMC	{Obesity, early-onset, susceptibility to}, 601665 (3) Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
PRDM6	Patent ductus arteriosus 3, 617039 (3)
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SPAG1	Ciliary dyskinesia, primary, 28, 615505 (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

ASCL1, CACNA1A, CPS1, KRT10, KRT3, KRT4, LHCGR, LOR, MSH3, PDE11A, PIEZO1, POMC, RTTN, TSPYL1,

ASCL1	Central hypoventilation syndrome, congenital (Haddad syndrome)
CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
CPS1	Carbamoylphosphate synthetase I deficiency
KRT10	Erythroderma, ichthyosiform, congenital reticular Aaru disease Ichthyosis, cyclic, with epidermolytic hyperkeratosis Epidermolytic hyperkeratosis Ichthyosis with confetti
KRT3	Meesmann corneal dystrophy
KRT4	White sponge nevus 1
LHCGR	Leydig cell hypoplasia type I Leydig cell hypoplasia type II Luteinizing hormone resistance, female Precocious puberty, male
LOR	Vohwinkel syndrome, variant form
MSH3	Endometrial carcinoma
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
POMC	Proopiomelanocortin deficiency
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: 78
Number of Genes: 77

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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	17-11096s1 germline-multisample gatk annotated 17-11097s2	10	rs74928179 dbSNP Clinvar	116085784	21027.3	C	CCCG	.	1/1	95	CODON_INSERTION	MODERATE	None							None None	None None None None	AFAP1L2\|0.092781823\|52.66%
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	11	rs113363731 dbSNP Clinvar	73020375	27211.9	G	GCTC	.	0/1	172	CODON_INSERTION	MODERATE	None	0.29892	0.29890	0.34846				None None	None None None None	ARHGEF17\|0.03247462\|68.39%
ART5
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	11	rs3062849 dbSNP Clinvar	3661585	28325.3	A	ATGG	.	1/1	102	CODON_INSERTION	MODERATE	None	0.96745	0.96750	0.03526				None None	None None None None	ART5\|0.101580058\|50.85%
ASCL1
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	12	rs3832799,rs764970999 dbSNP Clinvar	103352171	21020.9	C	CG...	.	1/2	101	CODON_INSERTION	MODERATE	None							None None	None None None None	PAH\|0.397123463\|20.97%,ASCL1\|0.898371145\|3.46%
ASPN
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	9	rs878929025,rs397838876,rs557103556 dbSNP Clinvar	95237024	16079.9	CTCA	C,...	.	1/2	119	CODON_INSERTION	MODERATE	None							None None	None None None None	CENPP\|0.015429847\|76.86%,ASPN\|0.415784887\|19.83%
BAIAP2L2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	22	.	38483189	5734.9	A	AG...	.	0/1	57	CODON_INSERTION	MODERATE	None							None None	None None None None	BAIAP2L2\|0.045525826\|64.05%
BPTF
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	17	rs139709271 dbSNP Clinvar	65955758	5531.9	T	TC...	.	1/2	57	CODON_INSERTION	MODERATE	None							None None	None None None None	BPTF\|0.199279409\|36.79%
BTBD2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	19	.	2015540	1825.31	GG...	G,...	.	1/1	10	CODON_INSERTION	MODERATE	None							None None	None None None None	BTBD2\|0.01881083\|74.8%
C12orf56
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	12	rs113411861 dbSNP Clinvar	64712546	32230.3	A	AGTT	.	1/1	115	CODON_INSERTION	MODERATE	None	0.43810	0.43810	0.45456				None None	None None None None	C12orf56\|0.034622904\|67.57%
C16orf3
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	16	rs71137702 dbSNP Clinvar	90095597	20566.9	T	TG...	.	0/1	120	CODON_INSERTION	MODERATE	None							None None	None None None None	GAS8\|0.279441552\|29.14%,GAS8-AS1\|0.000409624\|98.88%