ClinVar (all) for Orgtrack (Select 508170) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184620	NM_000455.5(STK11):c.812del (p.Ser271fs)	STK11 (S271fs)	Deletion (frameshift variant)	Germ cell tumor of testis	GPathogenic
Select item 1184619	NM_000140.5(FECH):c.181C>T (p.Gln61Ter)	FECH (Q61*)	Single nucleotide variant (nonsense +1 more)	Protoporphyria, erythropoietic, 1	GLikely pathogenic
Select item 1184618	NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter)	SETBP1 (Y994*)	Single nucleotide variant (nonsense)	Schinzel-Giedion syndrome	GLikely pathogenic
Select item 1184617	NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro)	SMCHD1 (L1108P)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GLikely pathogenic
Select item 1184616	NM_000180.4(GUCY2D):c.3043+5G>A	GUCY2D	Single nucleotide variant (intron variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 1184615	NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu)	NOD2 (M464L +1 more)	Single nucleotide variant (missense variant +1 more)	Blau syndrome	GLikely pathogenic
Select item 1184614	NM_001009944.3(PKD1):c.6813dup (p.Arg2272fs)	PKD1 (R2272fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1184613	NM_000548.5(TSC2):c.3523dup (p.Val1175fs)	TSC2 (V1083fs +6 more)	Duplication (frameshift variant)	Tuberous sclerosis 2	GLikely pathogenic
Select item 1184612	NM_003361.4(UMOD):c.278T>C (p.Val93Ala)	UMOD (V126A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GPathogenic
Select item 1184611	NM_003361.4(UMOD):c.280T>G (p.Cys94Gly)	UMOD (C127G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GPathogenic
Select item 1184610	NM_003361.4(UMOD):c.281G>C (p.Cys94Ser)	UMOD (C127S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GPathogenic
Select item 1184609	NM_003361.4(UMOD):c.283C>T (p.Pro95Ser)	UMOD (P128S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GPathogenic
Select item 1184608	NM_003361.4(UMOD):c.287_289del (p.Glu96del)	UMOD (E129del +1 more)	Deletion (inframe_deletion +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GPathogenic
Select item 1184607	NM_005262.3(GFER):c.575A>G (p.Asp192Gly)	GFER (D192G)	Single nucleotide variant (missense variant)	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	GPathogenic
Select item 1184606	NM_014714.4(IFT140):c.1422_1423insAA (p.Arg475fs)	IFT140, LOC105371046 (R475fs)	Insertion (frameshift variant)	Retinitis pigmentosa 80	GPathogenic
Select item 1184605	NM_001004127.3(ALG11):c.2T>C (p.Met1Thr)	LOC130009841, ALG11 (M1T)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GLikely pathogenic
Select item 1184604	NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del)	SACS	Deletion (inframe_deletion)	Charlevoix-Saguenay spastic ataxia	GLikely pathogenic
Select item 1184603	NM_021954.4(GJA3):c.148T>C (p.Ser50Pro)	GJA3 (S50P)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GLikely pathogenic
Select item 1184602	NM_021954.4(GJA3):c.184G>A (p.Glu62Lys)	GJA3 (E62K)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1184601	NM_001145026.2(PTPRQ):c.6024+2T>C	PTPRQ	Single nucleotide variant (splice donor variant)	Hearing loss, autosomal dominant 73	GLikely pathogenic
Select item 1184600	NM_007055.4(POLR3A):c.2554del (p.Met852fs)	POLR3A (M852fs)	Deletion (frameshift variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely pathogenic
Select item 1184599	NM_002778.4(PSAP):c.698T>G (p.Leu233Arg)	PSAP (L233R)	Single nucleotide variant (missense variant)	Combined PSAP deficiency	GLikely pathogenic
Select item 1184598	NM_002778.4(PSAP):c.1006-8_1021del	PSAP	Deletion (splice acceptor variant)	Combined PSAP deficiency	GLikely pathogenic
Select item 1184597	NM_022124.6(CDH23):c.1986+3A>T	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1184596	NM_002900.3(RBP3):c.509G>A (p.Arg170Gln)	RBP3 (R170Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184595	NM_016169.4(SUFU):c.1391G>A (p.Trp464Ter)	SUFU (W464*)	Single nucleotide variant (nonsense)	Familial meningioma	GLikely pathogenic
Select item 1184594	NM_032415.7(CARD11):c.88C>G (p.Arg30Gly)	CARD11 (R30G)	Single nucleotide variant (missense variant)	BENTA disease	GLikely pathogenic
Select item 1184593	NM_019042.5(PUS7):c.1385_1386del (p.Ser462fs)	PUS7 (S462fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 1184592	NM_001278716.2(FBXL4):c.1750del (p.Cys584fs)	FBXL4 (C584fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 13	GLikely pathogenic
Select item 1184591	NM_004415.4(DSP):c.2611_2614del (p.Asp871fs)	DSP (D871fs)	Microsatellite (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 1184590	NM_004415.4(DSP):c.818dup (p.Asn274fs)	DSP (N274fs)	Duplication (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 1184589	NM_138694.4(PKHD1):c.7202_7203dup (p.Gly2402fs)	PKHD1 (G2402fs)	Duplication (frameshift variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1184588	NM_000325.6(PITX2):c.347_378del (p.Tyr116fs)	PITX2 (Y109fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1184587	NM_130837.3(OPA1):c.4_5+2del	OPA1	Deletion (splice donor variant)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	GLikely pathogenic
Select item 1184586	NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs)	OPA1 (E397fs +9 more)	Deletion (frameshift variant)	OPA1-related disorder +1 more	GLikely pathogenic
Select item 1184585	NM_021831.6(AGBL5):c.323C>G (p.Pro108Arg)	AGBL5 (P108R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 75	GLikely pathogenic
Select item 1184584	NM_000090.4(COL3A1):c.4323_4326del (p.Ile1441fs)	COL3A1 (I1441fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1184583	NM_206933.4(USH2A):c.6486-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1184581	NM_206933.4(USH2A):c.12356T>C (p.Phe4119Ser)	USH2A (F4119S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GPathogenic
Select item 1184580	NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter)	USH2A (W4552*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 1184579	NM_033380.3(COL4A5):c.4315+2T>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1184578	NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)	COL4A5 (G334D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1184577	NM_000533.5(PLP1):c.423_426del (p.Cys141fs)	PLP1, RAB9B (C141fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary spastic paraplegia 2	GLikely pathogenic
Select item 1184576	NM_001098.3(ACO2):c.1687C>G (p.Gln563Glu)	ACO2, LOC130067544 (Q563E)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration	GLikely pathogenic
Select item 1184575	NM_001098.3(ACO2):c.927G>C (p.Lys309Asn)	ACO2 (K309N)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration	GLikely pathogenic
Select item 1184574	NM_001098.3(ACO2):c.865G>C (p.Glu289Gln)	ACO2 (E289Q)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration	GLikely pathogenic
Select item 1184573	NM_000355.4(TCN2):c.172del (p.Leu58fs)	TCN2 (L58fs)	Deletion (frameshift variant)	Transcobalamin II deficiency	GPathogenic
Select item 1184572	NM_001849.4(COL6A2):c.-27-3C>G	COL6A2	Single nucleotide variant (intron variant)	Ullrich congenital muscular dystrophy 1A	GLikely pathogenic
Select item 1184571	NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg)	GUCY2D (S958R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 1184570	NC_000017.11:g.8002596T>C		Single nucleotide variant	Leber congenital amaurosis 1	GLikely pathogenic
Select item 1184569	NM_000199.5(SGSH):c.716A>G (p.Gln239Arg)	SGSH (Q239R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 1184568	NM_001077620.3(PRCD):c.143+1G>A	CYGB, PRCD	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 36	GPathogenic
Select item 1184567	NM_000088.4(COL1A1):c.1200+1del	COL1A1	Deletion (splice donor variant)	Osteogenesis imperfecta, perinatal lethal	GLikely pathogenic
Select item 1184566	NM_014714.4(IFT140):c.2628C>A (p.Asn876Lys)	IFT140 (N876K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80	GLikely pathogenic
Select item 1184565	NM_025137.4(SPG11):c.3729del (p.Ser1244fs)	SPG11 (S1244fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 11	GLikely pathogenic
Select item 1184564	NM_001252024.2(TRPM1):c.4842del (p.Lys1615fs)	TRPM1 (K1593fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 1C	GLikely pathogenic
Select item 1184563	NM_004984.4(KIF5A):c.687T>A (p.Tyr229Ter)	KIF5A (Y140* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 1184562	NM_005276.4(GPD1):c.219+1_219+3del	GPD1	Microsatellite (splice donor variant)	Transient infantile hypertriglyceridemia and hepatosteatosis	GLikely pathogenic
Select item 1184561	NM_003482.4(KMT2D):c.12946G>T (p.Glu4316Ter)	KMT2D (E4316*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 1184560	NM_001370298.3(FGD4):c.2159G>A (p.Arg720Gln)	FGD4 (R239Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1184559	NM_001370298.3(FGD4):c.1097_1101del (p.Asp366fs)	FGD4 (D136fs +4 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4H	GLikely pathogenic
Select item 1184558	NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter)	MED13L (Q1598*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 1184557	NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer)	VPS13A	Deletion (nonsense)	Chorea-acanthocytosis	GPathogenic
Select item 1184556	NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer)	DNAI1	Deletion (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1184555	NM_133497.4(KCNV2):c.1199del (p.Phe400fs)	KCNV2 (F400fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1184554	NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg)	SETX (G2036R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	GLikely pathogenic
Select item 1184553	NC_000006.12:g.35506278_35506281del	TULP1	Deletion	Retinitis pigmentosa 14	GPathogenic
Select item 1184552	NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr)	TULP1 (P303T +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14	GPathogenic
Select item 1184551	NM_080680.3(COL11A2):c.5152C>G (p.Leu1718Val)	COL11A2 (L1611V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184550	NM_032861.4(SERAC1):c.1850_1851insA (p.Pro618fs)	SERAC1 (P618fs)	Insertion (frameshift variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 1184549	NM_182961.4(SYNE1):c.67+1G>A	SYNE1	Single nucleotide variant (splice donor variant)	Autosomal recessive ataxia, Beauce type	GPathogenic
Select item 1184548	NM_182961.4(SYNE1):c.12528+1G>A	SYNE1	Single nucleotide variant (splice donor variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 1184547	NM_006734.4(HIVEP2):c.2853_2854del (p.Glu953fs)	HIVEP2 (E953fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 43	GPathogenic
Select item 1184546	NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr)	GJA1 (S201Y)	Single nucleotide variant (missense variant)	Oculodentodigital dysplasia	GLikely pathogenic
Select item 1184545	NM_002890.3(RASA1):c.2771del (p.Pro924fs)	CCNH, RASA1 (P747fs +1 more)	Deletion (frameshift variant +1 more)	Capillary malformation-arteriovenous malformation 1	GLikely pathogenic
Select item 1184544	NM_001267550.2(TTN):c.51804_51805insCCAGTGCTATG (p.Ala17269fs)	TTN-AS1, TTN (A14701fs +5 more)	Insertion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 1184543	NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter)	LRP2 (R2614*)	Single nucleotide variant (nonsense)	Donnai-Barrow syndrome	GLikely pathogenic
Select item 1184542	NM_004525.3(LRP2):c.8095C>T (p.Arg2699Ter)	LRP2 (R2699*)	Single nucleotide variant (nonsense)	Donnai-Barrow syndrome	GLikely pathogenic
Select item 1184541	NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)	KDM5B (R706* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1184540	NM_018136.5(ASPM):c.8365del (p.Ser2789fs)	ASPM (S2789fs)	Deletion (intron variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1184539	NM_018136.5(ASPM):c.8794del (p.Ile2932fs)	ASPM (I2932fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1184538	NM_025207.5(FLAD1):c.797del (p.Glu266fs)	FLAD1 (E167fs +2 more)	Deletion (frameshift variant)	Myopathy with abnormal lipid metabolism	GPathogenic
Select item 1184537	NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer)	PCDH19	Deletion (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1184536	NM_000273.3(GPR143):c.346T>G (p.Cys116Gly)	GPR143 (C116G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1184535	NM_000273.3(GPR143):c.767+1G>A	GPR143	Single nucleotide variant (splice donor variant)	Ocular albinism, type I	GLikely pathogenic
Select item 1184534	NM_000216.4(ANOS1):c.67_92dup (p.Ala32fs)	ANOS1 (A32fs)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 1 with or without anosmia	GPathogenic
Select item 1184533	NC_000023.11:g.86047630G>A		Single nucleotide variant	Choroideremia	GLikely pathogenic
Select item 1184532	NM_000052.7(ATP7A):c.2917-4A>G	ATP7A	Single nucleotide variant (intron variant)	Cutis laxa, X-linked	GConflicting classifications of pathogenicity
Select item 1184531	NM_016120.4(RLIM):c.992G>A (p.Gly331Glu)	RLIM (G331E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 61	GLikely pathogenic
Select item 1184529	NM_006306.4(SMC1A):c.3181C>T (p.Gln1061Ter)	SMC1A (Q1039* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects	GLikely pathogenic
Select item 1184528	NM_001256789.3(CACNA1F):c.1877+1G>T	CACNA1F	Single nucleotide variant (splice donor variant)	X-linked cone-rod dystrophy 3	GPathogenic
Select item 1184527	NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln)	PROKR2 (R164Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 3 with or without anosmia	GPathogenic
Select item 1184526	NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser)	PROKR2 (T340S)	Single nucleotide variant (missense variant)	Amenorrhea +1 more	GConflicting classifications of pathogenicity
Select item 1184525	NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs)	RBCK1 (N338fs +2 more)	Deletion (frameshift variant +1 more)	Polyglucosan body myopathy 1 without immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 1184524	NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter)	RBCK1 (Q225* +1 more)	Single nucleotide variant (nonsense +2 more)	Polyglucosan body myopathy 1 without immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 1184523	NM_001174089.2(SLC4A11):c.1658C>A (p.Ser553Ter)	SLC4A11 (S515* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1184522	NM_015629.4(PRPF31):c.1374+569C>G	PRPF31	Single nucleotide variant (intron variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1184521	NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)	PRKCG (S132P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 1184520	NM_002739.5(PRKCG):c.381G>T (p.Gln127His)	PRKCG (Q127H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic
Select item 1184519	NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)	PRKCG (Y108C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GLikely pathogenic

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