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Genes:
ADRA2B, AKAP12, ALMS1, AR, ASPHD1, ATP6AP1, ATXN1, BMP2K, BRI3BP, C11orf80, C18orf25, CACNA1F, CELSR2, CLEC17A, DCP1B, DNHD1, DSPP, DYSF, EIF2AK4, EME1, EP400, FADS6, FAM171B, FAM46A, FMNL2, FOXF2, FZD1, GDF7, GGN, GIGYF2, GNAL, GNAS, GOLGA6L4, HAVCR1, HDAC2, HLA-DRB5, HRC, IFI27, IGFBP2, IL9R, KCNG2, KCNN2, KDM6B, KIAA1211, KIF20B, KRTAP5-10, KRTAP5-5, KRTAP5-8, LATS2, LCE4A, LOR, LSR, LTF, MAGEF1, MMP17, MNX1, NEFH, NOP9, NR1H2, NYNRIN, OR7C2, PCDH12, PCDHA4, PCGF6, PCLO, PCSK9, PKD2, PNMAL2, POLG, POTEI, POU4F2, PPM1E, PRDM13, PRDM2, PRICKLE4, REC8, RTL1, SASH1, SF3A2, SH3BGR, SHISA2, SIN3B, SNRPC, SSC5D, TMEM37, TTLL3, USP40, VEZF1, WDR66, ZBTB33, ZCCHC2, ZNF579, ZNF772, ZSWIM6,

+ Genes associated with diseases 23

Genes at Omim

ADRA2B, ALMS1, AR, ATP6AP1, ATXN1, CACNA1F, DSPP, DYSF, EIF2AK4, GIGYF2, GNAL, GNAS, LOR, MNX1, NEFH, PCDH12, PCLO, PCSK9, PKD2, POLG, SASH1, WDR66, ZSWIM6,

ADRA2B	Epilepsy, myoclonic, familial adult, 2, 607876 (3)
ALMS1	Alstrom syndrome, 203800 (3)
AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) {Prostate cancer, susceptibility to}, 176807 (3) Hypospadias 1, X-linked, 300633 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ATP6AP1	Immunodeficiency 47, 300972 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (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)
DSPP	Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3) Dentin dysplasia, type II, 125420 (3) Dentinogenesis imperfecta, Shields type II, 125490 (3) Dentinogenesis imperfecta, Shields type III, 125500 (3)
DYSF	Miyoshi muscular dystrophy 1, 254130 (3) Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3) Myopathy, distal, with anterior tibial onset, 606768 (3)
EIF2AK4	Pulmonary venoocclusive disease 2, 234810 (3)
GIGYF2	{Parkinson disease 11}, 607688 (3)
GNAL	Dystonia 25, 615073 (3)
GNAS	McCune-Albright syndrome, somatic, mosaic 174800 (3) Osseous heteroplasia, progressive, 166350 (3) Pituitary adenoma 3, multiple types, somatic, 617686 (3) Pseudohypoparathyroidism Ia, 103580 (3) Pseudohypoparathyroidism Ib, 603233 (3) Pseudohypoparathyroidism Ic, 612462 (3) Pseudopseudohypoparathyroidism, 612463 (3) ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
LOR	Vohwinkel syndrome with ichthyosis, 604117 (3)
MNX1	Currarino syndrome, 176450 (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)
PCSK9	{Low density lipoprotein cholesterol level QTL 1}, 603776 (3) Hypercholesterolemia, familial, 3, 603776 (3)
PKD2	Polycystic kidney disease 2, 613095 (3)
POLG	Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3) Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)
SASH1	Dyschromatosis universalis hereditaria 1, 127500 (3) ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)
WDR66	Spermatogenic failure 33, 618152 (3)
ZSWIM6	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ALMS1, AR, ATXN1, CACNA1F, DSPP, DYSF, EIF2AK4, GIGYF2, GNAL, GNAS, LOR, MNX1, NEFH, PCSK9, PKD2, POLG, ZSWIM6,

ALMS1	Alstrom syndrome
AR	Androgen insensitivity Androgen insensitivity, partial
ATXN1	Spinocerebellar ataxia 1
CACNA1F	Aland Island eye disease Cone-rod dystrophy, X-linked, 3 Night blindness, congenital stationary, X-linked, type 2A
DSPP	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta, Shields type II Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II
DYSF	Miyoshi muscular dystrophy 1 Muscular dystrophy, limb-girdle, type 2B Myopathy, distal, with anterior tibial onset
EIF2AK4	Pulmonary venoocclusive disease 2
GIGYF2	Parkinson disease, autosomal dominant, 11
GNAL	Primary torsion dystonia
GNAS	Pseudohypoparathyroidism, type IA Pseudohypoparathyroidism, type IB Pseudohypoparathyroidism, type IC Progressive osseous heteroplasia McCune-Albright syndrome
LOR	Vohwinkel syndrome, variant form
MNX1	Currarino syndrome
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
PCSK9	Hypercholesterolemia, familial, 3
PKD2	Polycystic kidney disease 2
POLG	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4B Sensory ataxia, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4A (Alpers type) Alpers syndrome POLG-related ataxia neuropathy spectrum disorders
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 99
Number of Genes: 94

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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	17-11096s1 germline-multisample gatk annotated 17-11097s2	2	rs34667759,rs28365031,rs29000568 dbSNP Clinvar	96780986	49939.3	C	CT...	.	1/1	143	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.24860	0.47060	0.29666				None None	None None None None	ADRA2B\|0.088340463\|53.59%
AKAP12
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	6	rs3842128,rs113116275,rs34338625 dbSNP Clinvar	151674116	41232.3	T	TGAG	.	1/1	162	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.70387	0.70390	0.22056				None None	None None None None	AKAP12\|0.001631589\|92.22%
ALMS1
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	2	rs61156725 dbSNP Clinvar	73613031	4555.29	TG...	TG...	.	1/2	26	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.76597	0.76600					None None	None None None None	ALMS1\|0.012791041\|78.65%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	2	rs587621330,rs34628045 dbSNP Clinvar	73675227	25436.3	T	TCTC	.	1/1	99	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.60044	0.60040	0.44921				None None	None None None None	ALMS1\|0.012791041\|78.65%
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	X	rs3032358 dbSNP Clinvar	66765158	2600.86	T	TGCA	.	1/1	36	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	AR\|0.999436019\|0.35%
ASPHD1
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	rs140411458,rs35784618 dbSNP Clinvar	29912802	18210.9	G	GGGT	.	0/1	169	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.20228	0.20230	0.35699				None None	None None None None	ASPHD1\|0.262036934\|30.55%
ATP6AP1
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	X	rs781797236 dbSNP Clinvar	153657133	14622.9	T	TG...	.	0/1	217	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ATP6AP1\|0.067534855\|57.98%
ATXN1
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	6	rs769091061,rs765686161 dbSNP Clinvar	16327864	23276.9	G	GTGC	.	0/1	61	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ATXN1\|0.832563526\|5.05%
BMP2K
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	4	rs35071794,rs747479746,rs3063772 dbSNP Clinvar	79792082	4438.86	C	CCAG	.	0/1	151	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	BMP2K\|0.123580091\|46.87%
BRI3BP
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	rs546819378,rs61379857 dbSNP Clinvar	125478381	3995.86	C	CCTG	.	0/1	37	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	BRI3BP\|0.039147799\|66.05%
C11orf80
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