ClinVar (all) for Orgtrack (Select 506801) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339523	NM_138694.4(PKHD1):c.9288_9290del (p.Ala3097del)	PKHD1 (A3097del)	Deletion (inframe_deletion)	Polycystic kidney disease 4	GLikely pathogenic
Select item 1339522	NM_145064.3(STAC3):c.432+1G>A	STAC3	Single nucleotide variant (intron variant +1 more)	Bailey-Bloch congenital myopathy	GLikely pathogenic
Select item 1339521	NM_001378183.1(PIEZO2):c.10G>T (p.Glu4Ter)	PIEZO2 (E4*)	Single nucleotide variant (nonsense)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic
Select item 1339520	NM_001378183.1(PIEZO2):c.273_279del (p.Pro92fs)	PIEZO2 (P92fs)	Deletion (frameshift variant)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic
Select item 1339519	NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu)	ALS2 (P550L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 2, juvenile	GLikely pathogenic
Select item 1339518	NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs)	SLC12A3 (L15fs)	Deletion (frameshift variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 1339517	NM_015087.5(SPART):c.988A>G (p.Met330Val)	SPART (M330V)	Single nucleotide variant (missense variant)	Troyer syndrome	GConflicting classifications of pathogenicity
Select item 1339516	NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln)	GUSB (R392Q +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 1339515	NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)	IDUA (E367fs +1 more)	Microsatellite (frameshift variant +1 more)	Hurler syndrome +1 more	GPathogenic
Select item 1339514	NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	IDUA (L491P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypokalemia-hypomagnesemia +2 more	GPathogenic/Likely pathogenic
Select item 1339513	NM_024120.5(NDUFAF5):c.172T>G (p.Trp58Gly)	LOC130065433, NDUFAF5 (W58G)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 16	GUncertain significance
Select item 1339512	NM_003194.5(TBP):c.216del (p.Gln72fs)	LOC108663996, TBP (Q52fs +1 more)	Deletion (frameshift variant)	not specified	GBenign
Select item 1339511	NM_153443.5(KIR3DL3):c.971T>C (p.Val324Ala)	KIR3DL3 (V324A)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1339510	NM_001080770.2(KIR2DL4):c.41-20A>C	KIR2DL4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1339509	NM_001329.4(CTBP2):c.22A>T (p.Lys8Ter)	CTBP2 (K8*)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 1339508	NM_015846.4(MBD1):c.1304C>T (p.Thr435Ile)	MBD1 (T243I +12 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1339507	NM_003980.6(MAP7):c.770T>A (p.Ile257Asn)	MAP7 (I111N +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1339506	NM_004813.4(PEX16):c.460+5G>A	PEX16	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 1339505	NM_020435.4(GJC2):c.755A>G (p.His252Arg)	GJC2 (H252R)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 1339504	NM_020435.4(GJC2):c.371_392dup (p.His132fs)	GJC2 (H132fs)	Duplication (frameshift variant)	Hypomyelinating leukodystrophy 2	GLikely pathogenic
Select item 1339503	NM_016373.4(WWOX):c.929G>C (p.Arg310Pro)	WWOX (R197P +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
Select item 1339502	NC_000016.9:g.78159969_78320350del	WWOX	Deletion	Developmental and epileptic encephalopathy, 28	GLikely pathogenic
Select item 1339501	NM_016373.4(WWOX):c.409+1G>T	WWOX	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 28	GPathogenic
Select item 1339500	NM_000487.6(ARSA):c.1276G>A (p.Glu426Lys)	ARSA (E340K +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy	GLikely pathogenic
Select item 1339499	NM_054012.4(ASS1):c.364-2A>G	ASS1	Single nucleotide variant (splice acceptor variant)	Citrullinemia, type II, adult-onset +1 more	GPathogenic
Select item 1339498	NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp)	SUCLA2 (R407W)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 1339497	NM_001077418.3(TMEM231):c.310-2A>G	TMEM231	Single nucleotide variant (non-coding transcript variant +1 more)	Meckel syndrome, type 11	GLikely pathogenic
Select item 1339496	NM_001040716.2(PC):c.2278C>T (p.Arg760Trp)	PC (R760W)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 1324943	NM_000270.4(PNP):c.12-1G>C	PNP	Single nucleotide variant (splice acceptor variant)	Purine-nucleoside phosphorylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1323183	NM_002292.4(LAMB2):c.3207dup (p.Asn1070fs)	LAMB2 (N1070fs)	Duplication (frameshift variant)	LAMB2-related infantile-onset nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1252059	NM_017777.4(MKS1):c.1126dup (p.Thr376fs)	MKS1 (T173fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1214172	NM_002485.5(NBN):c.589del (p.Tyr197fs)	NBN (Y115fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 1188580	NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro)	PYCR2 (A14P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028605	NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)	VPS33B (R567G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 996102	NM_022370.4(ROBO3):c.2312C>T (p.Pro771Leu)	ROBO3 (P771L)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis 1	GLikely pathogenic
Select item 993028	NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)	UNC80 (R137*)	Single nucleotide variant (nonsense)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more	GPathogenic
Select item 982141	NM_014694.4(ADAMTSL2):c.2592+67C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982140	NM_014694.4(ADAMTSL2):c.1748-135G>C	ADAMTSL2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982139	NM_001136020.3(ICA1):c.804+171T>C	ICA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982138	NM_001136020.3(ICA1):c.804+175T>C	ICA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982137	NM_001002029.4(C4B):c.4876+50C>T	C4B, LOC110631417	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982136	NM_001002029.3(C4B):c.1040C>A (p.Ser347Tyr)	C4B (S347Y)	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 982135	NM_007293.3(C4A):c.5064G>A (p.Leu1688=)	C4A	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 982134	NM_007293.3(C4A):c.4876+50C>T	C4A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982133	NM_007293.3(C4A):c.2944+55T>C	C4A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 982132	NM_007293.3(C4A):c.1524+23C>A	C4A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982131	NM_000271.5(NPC1):c.2130+1G>A	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 982130	NM_015713.5(RRM2B):c.204+5G>A	RRM2B	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 8a	GConflicting classifications of pathogenicity
Select item 982129	NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)	SERAC1 (R103fs)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely pathogenic
Select item 982128	NM_001368882.1(COL13A1):c.1559G>A (p.Gly520Asp)	COL13A1 (G299D +9 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 19	GPathogenic
Select item 982127	NM_000317.3(PTS):c.342C>G (p.Ile114Met)	PTS (I114M)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 982126	NM_000317.3(PTS):c.2T>G (p.Met1Arg)	LOC130006765, PTS (M1R)	Single nucleotide variant (missense variant +1 more)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 982125	NM_007293.3(C4A):c.1045+70G>A	C4A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982124	NM_007293.3(C4A):c.1040C>A (p.Ser347Tyr)	C4A (S347Y)	Single nucleotide variant (no sequence alteration +2 more)	not specified	GBenign
Select item 982123	NM_198321.4(GALNT10):c.263-138A>T	GALNT10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 982122	NM_198321.4(GALNT10):c.263-139G>C	GALNT10	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 982121	NM_017411.4(SMN2):c.462A>G (p.Gln154=)	SMN2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 982120	NM_001124759.5(FRG2C):c.497A>G (p.Glu166Gly)	FRG2C (E166G)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 982119	NM_001124759.5(FRG2C):c.359A>G (p.Asn120Ser)	FRG2C (N120S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 982118	NM_001124759.5(FRG2C):c.334+114A>G	FRG2C	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982117	NM_001124759.5(FRG2C):c.334+93C>T	FRG2C	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982116	NM_001124759.5(FRG2C):c.317T>G (p.Ile106Ser)	FRG2C (I106S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 982115	NM_001124759.5(FRG2C):c.278A>G (p.Gln93Arg)	FRG2C (Q93R)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 982114	NM_001124759.5(FRG2C):c.179-112A>G	FRG2C	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982113	NM_001277062.2(MFF):c.-40-862_-40-861delinsTT	MFF (S7F)	Indel (intron variant +2 more)	not specified +1 more	GBenign
Select item 982112	NM_005915.6(MCM6):c.2428T>C (p.Tyr810His)	MCM6 (Y810H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 982111	NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs)	MMUT (A271fs)	Indel (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 982110	NM_000255.4(MMUT):c.1445-1G>C	MMUT	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 982109	NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)	GAA (Q553*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic
Select item 982108	NM_000282.4(PCCA):c.2119-2A>G	PCCA	Single nucleotide variant (splice acceptor variant)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 982107	NM_000396.4(CTSK):c.5G>A (p.Trp2Ter)	CTSK (W2*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GPathogenic
Select item 982106	NM_000396.4(CTSK):c.244-29A>G	CTSK	Single nucleotide variant (intron variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 982105	NM_001371986.1(UNC80):c.9116A>T (p.Glu3039Val)	UNC80 (E2968V +2 more)	Single nucleotide variant (missense variant)	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	GUncertain significance
Select item 982104	NM_001379500.1(COL18A1):c.3217-63A>T	SLC19A1, COL18A1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982103	NC_000020.11:g.30399118C>A		Single nucleotide variant	not specified	GBenign
Select item 982102	NC_000020.11:g.30393488G>A		Single nucleotide variant	not specified	GBenign
Select item 982101	NM_024330.4(SLC27A3):c.1037-26T>C	SLC27A3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982100	NM_024330.4(SLC27A3):c.1037-28C>T	SLC27A3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982099	NM_005026.5(PIK3CD):c.-138+2682G>C	PIK3CD, PIK3CD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 982098	NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter)	AP4M1 (Q183* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 50	GPathogenic
Select item 982097	NM_024809.5(TCTN2):c.862_863del (p.Val288fs)	TCTN2 (V287fs +1 more)	Deletion (frameshift variant)	Meckel syndrome, type 6	GLikely pathogenic
Select item 982096	NM_024809.5(TCTN2):c.1286dup (p.Asn429fs)	TCTN2 (N428fs +1 more)	Duplication (frameshift variant)	Meckel syndrome, type 6	GLikely pathogenic
Select item 982095	NM_001378615.1(CC2D2A):c.4555T>C (p.Trp1519Arg)	CC2D2A (W1470R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 982094	NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)	CC2D2A (Y1282C +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 9 +1 more	GConflicting classifications of pathogenicity
Select item 982093	NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)	CEP290 (E1572K)	Single nucleotide variant (missense variant)	Joubert syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 982092	NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter)	CAVIN1 (E184*)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 4	GLikely pathogenic
Select item 982091	NM_001040716.2(PC):c.1480C>T (p.Gln494Ter)	PC (Q494*)	Single nucleotide variant (nonsense)	Pyruvate carboxylase deficiency	GPathogenic
Select item 982090	NM_022356.4(P3H1):c.1839-2A>C	P3H1	Single nucleotide variant (splice acceptor variant)	Osteogenesis imperfecta type 8	GPathogenic/Likely pathogenic
Select item 982088	NM_000088.4(COL1A1):c.459del (p.Gly154fs)	COL1A1 (G154fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I +2 more	GPathogenic
Select item 982087	NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter)	CEP135 (R908*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 982086	NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)	LAMB2 (C324R)	Single nucleotide variant (missense variant)	Pierson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 982085	NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)	LOC126862447, GALNS	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-IV-A	GUncertain significance
Select item 982084	NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)	ABCB4 (E898K)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 3	GPathogenic/Likely pathogenic
Select item 982083	NC_000020.11:g.30393452C>T		Single nucleotide variant	not specified	GBenign
Select item 982082	NC_000020.11:g.30393436C>A		Single nucleotide variant	not specified	GBenign
Select item 982081	NC_000020.11:g.30393423G>C		Single nucleotide variant	not specified	GBenign
Select item 982080	NC_000020.11:g.30391112C>T		Single nucleotide variant	not specified	GBenign
Select item 982079	NM_001270974.2(HYDIN):c.2768+22G>A	HYDIN	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 982078	NM_001270974.2(HYDIN):c.12129+60G>A	HYDIN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 982077	NM_001270974.2(HYDIN):c.12327T>C (p.Ile4109=)	HYDIN	Single nucleotide variant (synonymous variant)	not specified	GBenign

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