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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCF3, ACKR2, ACOX2, ACVR2B, ADIPOQ, ALAS1, ALG3, ALS2CL, ANO10, APEH, APPL1, ARHGEF3, ARIH2, ARL13B, ARPC4-TTLL3, ATP13A4, ATP13A5, ATP6V1A, ATR, BOC, BSN, BTD, C3orf33, CADPS, CAMKV, CASR, CCDC66, CCDC71, CD47, CDHR4, CELSR3, CEP70, CHCHD4, CHRD, CLDN16, CNTN3, CNTN4, COL6A5, CPNE9, CRYBG3, CSRNP1, CTDSPL, DAG1, DALRD3, DBR1, DNAH1, DNAH12, DPPA2, DRD3, DVL3, EEFSEC, EFCAB12, EFHB, EIF4G1, ENTPD3, EOMES, ETV5, EXOSC7, FAM208A, FAM212A, FANCD2OS, FBXL2, FBXO45, FBXW12, FLNB, FYCO1, GOLGA4, GOLGB1, GPR128, GSK3B, HEG1, HTR3C, HTR3E, IGSF10, IL17RB, IL17RC, IP6K1, ITIH1, ITIH3, ITPR1, KAT2B, LAMB2, LAMP3, LARS2, LIMD1, LIPH, LRRC31, MAGI1, MAP4, MCF2L2, MFI2, MRPL47, MUC13, MYH15, MYLK, NEK4, NFKBIZ, NISCH, NKTR, NR1I2, OPA1, OSBPL11, OXSM, PAK2, PBRM1, PCYT1A, PDE12, PHLDB2, PIK3R4, PLXNB1, PLXND1, PSMD6, PTH1R, PTPLB, PTPN23, PTX3, PXK, QTRTD1, RAD54L2, RNF168, ROBO2, SACM1L, SCN11A, SCN5A, SEMA3F, SEMA3G, SENP2, SETD2, SETD5, SHQ1, SLC22A13, SLC51A, SLC6A6, SLC9C1, SLCO2A1, SPCS1, SSUH2, ST6GAL1, STAB1, STAG1, STT3B, TADA3, TATDN2, TBC1D23, TF, TMCC1, TMEM43, TMPPE, TNK2, TRANK1, TRPC1, TSEN2, TTC14, TTLL3, UBA7, ULK4, UQCRC1, USP4, VWA5B2, WDR6, XIRP1, YEATS2, ZBTB47, ZDHHC19, ZNF589, ZXDC,

+ Genes associated with diseases 40

Genes at Omim

ACOX2, ACVR2B, ADIPOQ, ALG3, ANO10, APPL1, ARL13B, ATP6V1A, ATR, BTD, CASR, CLDN16, DAG1, DNAH1, DRD3, DVL3, EIF4G1, FLNB, FYCO1, IL17RC, ITPR1, LAMB2, LARS2, LIPH, MYLK, OPA1, PCYT1A, RNF168, ROBO2, SCN11A, SCN5A, SETD2, SETD5, SLCO2A1, STAG1, STT3B, TBC1D23, TF, TMEM43, TSEN2,

ACOX2	Bile acid synthesis defect, congenital, 6, 617308 (3)
ACVR2B	Heterotaxy, visceral, 4, autosomal, 613751 (3)
ADIPOQ	Adiponectin deficiency, 612556 (3)
ALG3	Congenital disorder of glycosylation, type Id, 601110 (3)
ANO10	Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)
APPL1	{Maturity-onset diabetes of the young, type 14}, 616511 (3)
ARL13B	Joubert syndrome 8, 612291 (3)
ATP6V1A	Cutis laxa, autosomal recessive, type IID, 617403 (3) Epileptic encephalopathy, infantile or early childhood, 3, 618012 (3)
ATR	?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3) Seckel syndrome 1, 210600 (3)
BTD	Biotinidase deficiency, 253260 (3)
CASR	Hyperparathyroidism, neonatal, 239200 (3) Hypocalcemia, autosomal dominant, 601198 (3) Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3) Hypocalciuric hypercalcemia, type I, 145980 (3) {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CLDN16	Hypomagnesemia 3, renal, 248250 (3)
DAG1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)
DNAH1	?Ciliary dyskinesia, primary, 37, 617577 (3) Spermatogenic failure 18, 617576 (3)
DRD3	{Essential tremor, hereditary, 1}, 190300 (3) {Schizophrenia, susceptibility to}, 181500 (3)
DVL3	Robinow syndrome, autosomal dominant 3, 616894 (3)
EIF4G1	{Parkinson disease 18}, 614251 (3)
FLNB	Atelosteogenesis, type I, 108720 (3) Atelosteogenesis, type III, 108721 (3) Boomerang dysplasia, 112310 (3) Larsen syndrome, 150250 (3) Spondylocarpotarsal synostosis syndrome, 272460 (3)
FYCO1	Cataract 18, autosomal recessive, 610019 (3)
IL17RC	Candidiasis, familial, 9, 616445 (3)
ITPR1	Gillespie syndrome, 206700 (3) Spinocerebellar ataxia 15, 606658 (3) Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
LAMB2	Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3) Pierson syndrome, 609049 (3)
LARS2	?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3) Perrault syndrome 4, 615300 (3)
LIPH	Hypotrichosis 7, 604379 (3) Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)
MYLK	Aortic aneurysm, familial thoracic 7, 613780 (3)
OPA1	{Glaucoma, normal tension, susceptibility to}, 606657 (3) Behr syndrome, 210000 (3) Optic atrophy 1, 165500 (3) Optic atrophy plus syndrome, 125250 (3) ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)
PCYT1A	Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
RNF168	RIDDLE syndrome, 611943 (3)
ROBO2	Vesicoureteral reflux 2, 610878 (3)
SCN11A	Episodic pain syndrome, familial, 3, 615552 (3) Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)
SCN5A	Atrial fibrillation, familial, 10, 614022 (3) Brugada syndrome 1, 601144 (3) Cardiomyopathy, dilated, 1E, 601154 (3) Heart block, nonprogressive, 113900 (3) Heart block, progressive, type IA, 113900 (3) Long QT syndrome-3, 603830 (3) {Sudden infant death syndrome, susceptibility to}, 272120 (3) Sick sinus syndrome 1, 608567 (3) Ventricular fibrillation, familial, 1, 603829 (3)
SETD2	Luscan-Lumish syndrome, 616831 (3)
SETD5	Mental retardation, autosomal dominant 23, 615761 (3)
SLCO2A1	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
STAG1	Mental retardation, autosomal dominant 47, 617635 (3)
STT3B	?Congenital disorder of glycosylation, type Ix, 615597 (3)
TBC1D23	Pontocerebellar hypoplasia, type 11, 617695 (3)
TF	Atransferrinemia, 209300 (3)
TMEM43	Arrhythmogenic right ventricular dysplasia 5, 604400 (3) Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)
TSEN2	Pontocerebellar hypoplasia type 2B, 612389 (3)

Genes at Clinical Genomics Database

ACVR2B, ALG3, ALS2CL, ANO10, APPL1, ARL13B, ATR, BTD, CASR, CLDN16, DAG1, DNAH1, DVL3, EIF4G1, FLNB, FYCO1, IL17RC, ITPR1, LAMB2, LARS2, LIPH, MYLK, OPA1, PBRM1, PCYT1A, PTH1R, RNF168, ROBO2, SCN11A, SCN5A, SETD2, SETD5, SLCO2A1, STT3B, TF, TMEM43, TSEN2,

ACVR2B	Heterotaxy, visceral, 4, autosomal
ALG3	Congenital disorder of glycosylation, type Id
ALS2CL	Schizophrenia
ANO10	Spinocerebellar ataxia, autosomal recessive 10
APPL1	Maturity-onset diabetes of the young, type 14
ARL13B	Joubert syndrome 8
ATR	Cutaneous telangiectasia and cancer syndrome, familial Seckel syndrome 1
BTD	Biotinidase deficiency
CASR	Hyperparathyroidism, neonatal Hypocalcemia, autosomal dominant Hypocalcemia, autosomal dominant, with Bartter syndrome Hypocalciuric hypercalcemia, type I Hyperparathyroidism, neonatal severe primary Hypoparathyroidism, familial isolated Hyperparathyroidism, familial primary
CLDN16	Hypomagnesemia 3, renal
DAG1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy, type C, 9
DNAH1	Spermatogenic failure
DVL3	Robinow syndrome, autosomal dominant 3
EIF4G1	Parkinson disease 18 Macular dystrophy with central cone involvement
FLNB	Larsen syndrome Spondylocarpotarsal synostosis syndrome Boomerang dysplasia Atelosteogenesis, type I Atelosteogenesis, type III
FYCO1	Cataract, autosomal recessive congenital 2
IL17RC	Candiasis, familial, 9
ITPR1	Spinocerebellar ataxia 15 Spinocerebellar ataxia 29
LAMB2	Pierson syndrome Nephrotic syndrome, type 5, with or without ocular abnormalities
LARS2	Perrault syndrome 4
LIPH	Hypotrichosis 7
MYLK	Aortic aneurysm, familial thoracic 7
OPA1	Glaucoma, normal tension, susceptibility to
PBRM1	Clear cell renal cell carcinoma
PCYT1A	Spondylometaphyseal dysplasia with cone-rod dystrophy
PTH1R	Eiken syndrome Chondrodysplasia, Blomstrand type Metaphyseal chondrodysplasia, Murk Jansen type Failure of tooth eruption, primary
RNF168	RIDDLE syndrome
ROBO2	Congenital anomalies of the kidney and urinary tract
SCN11A	Episodic pain syndrome, familial, 3 Neuropathy, hereditary sensory and autonomic, type VI
SCN5A	Atrial fibrillation, familial 10 Long QT syndrome 3 Idiopathic ventricular fibrillation Heart block, progressive, type IA Heart block, nonprogressive Sick sinus syndrome 1, autosomal recessive Cardiomyopathy, dilated, 1E Brugada syndrome 1 Ventricular fibrillation, familial 1
SETD2	Luscan-Lumish syndrome
SETD5	Mental retardation, autosomal dominant 23
SLCO2A1	Hypertrophic osteoarthropathy, primary, autosomal recessive 2 Primary hypertrophic osteoarthropathy
STT3B	Congenital disorder of glycosylation, type Ix
TF	Atransferrinemia
TMEM43	Arrhythmogenic right ventricular dysplasia 5 Emery-Dreifuss muscular dystrophy 7
TSEN2	Pontocerebellar hypoplasia type 2B

Genes at HGMD

Summary

Number of Variants: 12802
Number of Genes: 166

Export to: CSV

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ABCF3
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	20tes0779_fb	3	.	183907176	47.7931	T	C	.	1/1	2	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE				0.00	1.00		None None	None None None None	EIF2B5\|0.736636231\|7.47%,ABCF3\|0.210006842\|35.58%
ACKR2
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	20tes0779_fb	3	.	42906301	534.516	C	T	.	0/1	62	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	0.82		None None	None None None None	ACKR2\|0.020748215\|73.81%,KRBOX1\|0.003506869\|87.76%,CYP8B1\|0.009872221\|80.96%
	View	20tes0779_fb	3	.	42906284	1471.81	T	C	.	1/1	49	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.19	0.33		None None	None None None None	ACKR2\|0.020748215\|73.81%,KRBOX1\|0.003506869\|87.76%,CYP8B1\|0.009872221\|80.96%
ACOX2
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	20tes0779_fb	3	.	58517514	0.000296304	T	A	.	0/1	14	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ACOX2\|0.021941785\|73.2%
ACVR2B
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	20tes0779_fb	3	.	38524744	1184.37	G	T	.	0/1	118	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.32	0.00		None None	None None None None	ACVR2B\|0.559847657\|13.37%
ADIPOQ
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	20tes0779_fb	3	.	186572422	70.5834	ACG	CCC	.	0/1	10	NON_SYNONYMOUS_CODING	MODERATE					0.00	0.84		None None	None None None None	ADIPOQ\|0.239416973\|32.49%
	View	20tes0779_fb	3	.	186572366	313.406	G	A	.	0/1	31	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	1.00		None None	None None None None	ADIPOQ\|0.239416973\|32.49%
	View	20tes0779_fb	3	.	186572338	163.456	CA...	CA...	.	0/1	30	FRAME_SHIFT+STOP_GAINED	HIGH								None None	None None None None	ADIPOQ\|0.239416973\|32.49%
	View	20tes0779_fb	3	.	186571032	7.0784	T	G	.	0/1	56	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.49	0.32		None None	None None None None	ADIPOQ\|0.239416973\|32.49%
	View	20tes0779_fb	3	.	186571022	0.1888	TGGGA	GG...	.	0/1	58	NON_SYNONYMOUS_CODING	MODERATE								None None	None None None None	ADIPOQ\|0.239416973\|32.49%
	View	20tes0779_fb	3	.	186571021	303.036	G	A	.	0/1	64	SYNONYMOUS_CODING	LOW								None None	None None None None	ADIPOQ\|0.239416973\|32.49%
ALAS1
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	20tes0779_fb	3	.	52238929	1452.8	CG...	CG...	.	1/1	126	None	None	None							None None	None None None None	ALAS1\|0.153297782\|42.48%
ALG3
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	20tes0779_fb	3	.	183961744	446.1	A	G	.	0/1	43	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.46	0.89		None None	None None None None	EIF2B5\|0.736636231\|7.47%,ALG3\|0.337737393\|24.98%
ALS2CL
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	20tes0779_fb	3	.	46717878	309.335	C	G	.	0/1	36	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ALS2CL\|0.023531697\|72.41%
ANO10
Omim - GeneCards - NCBI