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Genes:
AAK1, ADAMTS8, ALLC, ALPK2, ANKRD31, AR, ATAD5, ATF7IP2, ATXN2, C6orf132, CD3EAP, CDKN1C, CFTR, COBL, COL18A1, CREB3L2, CTBS, CTSA, CYP21A2, DCAF8L2, DCP1A, DEFB132, FAM109A, FAM174B, FAM71E2, FMN2, FNDC1, FRMD4A, GOLGA6L2, GPRIN1, GPSM2, GPX1, GRIN3B, GRWD1, HAVCR1, HOMEZ, HRC, IRF2BPL, IRF5, IST1, KIAA2018, KLRF1, KRTAP10-10, KRTAP4-1, LENG9, MAFA, MAML2, MAML3, MAP3K4, MEF2A, MEGF9, MEOX2, MESP2, MEX3C, MN1, MRPL18, MYT1L, NCOA3, NOTCH4, NRD1, NUMBL, OR14A16, OR4C3, OR5H6, ORAI1, PHLDA1, PLBD1, POLI, PPTC7, PRKCSH, PRUNE2, PTPRZ1, RAI1, RIC8A, RIN3, ROBO3, SELPLG, SFRP1, SIRPA, SLC38A10, SPATA3, SPRR3, SRRD, TBP, TMEM121, TMEM52, TMPRSS13, TRIM52, TRIOBP, UBXN11, URI1, USP36, VEGFC, VSIG10, YEATS2, ZBTB21, ZCCHC3, ZCCHC6, ZFPM1, ZIC5, ZNF2, ZNF219, ZNF384, ZNF426, ZNF717, ZNF787, ZSWIM6,

+ Genes associated with diseases 27

Genes at Omim

AR, ATXN2, CDKN1C, CFTR, COL18A1, CTSA, CYP21A2, FMN2, FRMD4A, GPSM2, GPX1, IRF2BPL, IRF5, MAFA, MAML2, MEF2A, MESP2, MN1, MYT1L, ORAI1, PRKCSH, RAI1, ROBO3, TBP, TRIOBP, VEGFC, ZSWIM6,

AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) Hypospadias 1, X-linked, 300633 (3) {Prostate cancer, susceptibility to}, 176807 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ATXN2	{Parkinson disease, late-onset, susceptibility to}, 168600 (3) Spinocerebellar ataxia 2, 183090 (3) {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
CDKN1C	Beckwith-Wiedemann syndrome, 130650 (3) IMAGE syndrome, 614732 (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)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
CTSA	Galactosialidosis, 256540 (3)
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3) Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
FRMD4A	?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
GPSM2	Chudley-McCullough syndrome, 604213 (3)
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
IRF5	{Inflammatory bowel disease 14}, 612245 (3) {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
MAFA	Insulinomatosis and diabetes mellitus, 147630 (3)
MAML2	Mucoepidermoid salivary gland carcinoma (3)
MEF2A	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MN1	Meningioma, 607174 (3)
MYT1L	Mental retardation, autosomal dominant 39, 616521 (3)
ORAI1	Immunodeficiency 9, 612782 (3) Myopathy, tubular aggregate, 2, 615883 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
ROBO3	Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
VEGFC	Lymphatic malformation 4, 615907 (3)
ZSWIM6	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

AR, ATXN2, CDKN1C, CFTR, COL18A1, CTSA, CYP21A2, FMN2, FRMD4A, GPSM2, MESP2, MN1, MYT1L, ORAI1, PRKCSH, RAI1, ROBO3, TBP, TRIOBP, VEGFC, ZSWIM6,

AR	Androgen insensitivity Androgen insensitivity, partial
ATXN2	Spinocerebellar ataxia 2
CDKN1C	IMAGE syndrome Beckwith-Wiedemann syndrome
CFTR	Cystic fibrosis
COL18A1	Knobloch syndrome 1
CTSA	Galactosialidosis
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
FMN2	Mental retardation, autosomal recessive, 47
FRMD4A	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
GPSM2	Chudley-McCullough syndrome Deafness, autosomal recessive 82
MESP2	Spondylocostal dysostosis 2, autosomal recessive
MN1	Meningioma, familial
MYT1L	Mental retardation, autosomal dominant 39
ORAI1	Immunodeficiency 9
PRKCSH	Polycystic liver disease
RAI1	Smith-Magenis syndrome
ROBO3	Gaze palsy, horizontal, with progressive scoliosis
TBP	Spinocerebellar ataxia 17
TRIOBP	Deafness, autosomal recessive 28
VEGFC	Lymphedema, hereditary, ID
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 110
Number of Genes: 107

Export to: CSV

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AAK1
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	mm170802ap	2	rs3832159,rs66931661 dbSNP Clinvar	69741753	995.73	CTGT	C	.	0/1	61	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.35583	0.35580	0.34251				None None	None None None None	AAK1\|0.297965723\|27.81%
ADAMTS8
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	mm170802ap	11	rs10548872 dbSNP Clinvar	130298117	612.73	GGCA	G	.	0/1	45	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.07728	0.47700	0.51250				None None	None None None None	ADAMTS8\|0.042125202\|65.07%
ALLC
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	mm170802ap	2	rs66473381,rs759577715,rs796898978,rs201406139,rs34308920 dbSNP Clinvar	3749151	2300.73	GGAA	G	.	0/1	140	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.41194	0.41190	0.49313				None None	None None None None	ALLC\|0.091233568\|52.99%
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	mm170802ap	18	rs67925233 dbSNP Clinvar	56204387	12229.73	AC...	A	.	0/1	217	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.40196	0.40200					None None	None None None None	ALPK2\|0.002935349\|88.74%
ANKRD31
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	mm170802ap	5	rs10563854,rs796339850 dbSNP Clinvar	74491715	5134.73	TTCA	T	.	0/1	202	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.58147	0.58150	0.49535				None None	None None None None	ANKRD31\|0.011398689\|79.69%
AR
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	mm170802ap	X	rs797045254 dbSNP Clinvar	66765158	2077.73	TG...	T	.	1/1	41	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None							None None	None None None None	AR\|0.999436019\|0.35%
ATAD5
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	mm170802ap	17	rs72427574,rs60663953 dbSNP Clinvar	29161955	11769.73	AC...	A	.	1/1	147	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.14397	0.14400	0.08583				None None	None None None None	ATAD5\|0.264597723\|30.33%
ATF7IP2
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	mm170802ap	16	rs56252625,rs113642662,rs571414967 dbSNP Clinvar	10524656	2826.73	GGAC	G	.	0/1	126	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.60324	0.60320	0.41109				None None	None None None None	ATF7IP2\|0.022985481\|72.74%
ATXN2
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	mm170802ap	12	rs10560189,rs67658094 dbSNP Clinvar	112036753	685.73	GGCT	G	.	1/1	27	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.95108	0.95110	0.09190				None None	None None None None	ATXN2\|0.872313714\|4.16%
C6orf132
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	mm170802ap	6	rs748748025 dbSNP Clinvar	42075104	1735.8	GG...	G	.	1/1	7	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None			0.01987				None None	None None None None	C6orf132\|0.022955823\|72.75%