ClinVar for Gene (Select 55650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370725	NM_017837.4(PIGV):c.1228A>T (p.Thr410Ser)	PIGV (T201S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360507	NM_017837.4(PIGV):c.1445_1448dup (p.Leu484fs)	PIGV (L110fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3347962	NM_017837.4(PIGV):c.996dup (p.Pro333fs)	PIGV (P124fs +2 more)	Duplication (frameshift variant +2 more)	PIGV-related disorder	GUncertain significance
Select item 3342190	NM_017837.4(PIGV):c.420G>A (p.Leu140=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3338058	NM_017837.4(PIGV):c.146C>T (p.Ser49Leu)	PIGV (S49L)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 3306523	NM_017837.4(PIGV):c.123C>G (p.Phe41Leu)	PIGV (F41L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3234215	NM_017837.4(PIGV):c.222T>C (p.Ile74=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3212843	NM_017837.4(PIGV):c.920T>A (p.Ile307Asn)	PIGV (I180N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3212842	NM_017837.4(PIGV):c.757G>A (p.Ala253Thr)	PIGV (A126T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063122	GRCh37/hg19 1p36.11(chr1:27014190-27179034)x3	ARID1A, PIGV +1 more	Copy number gain	not specified	GUncertain significance
Select item 3003475	NM_017837.4(PIGV):c.759C>T (p.Ala253=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2999646	NM_017837.4(PIGV):c.129T>G (p.Pro43=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2984531	NM_017837.4(PIGV):c.1074G>T (p.Leu358=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2973135	NM_017837.4(PIGV):c.1200+18C>A	PIGV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960314	NM_017837.4(PIGV):c.978C>T (p.Pro326=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2901340	NM_017837.4(PIGV):c.27G>A (p.Lys9=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2879090	NM_017837.4(PIGV):c.45A>G (p.Ala15=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2863039	NM_017837.4(PIGV):c.1050T>G (p.Pro350=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2854364	NM_017837.4(PIGV):c.996A>T (p.Ala332=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2853956	NM_017837.4(PIGV):c.78+12A>T	PIGV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844274	NM_017837.4(PIGV):c.1201-17C>A	PIGV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841145	NM_017837.4(PIGV):c.705T>C (p.Phe235=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2837604	NM_017837.4(PIGV):c.524T>C (p.Leu175Pro)	PIGV (L175P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2832656	NM_017837.4(PIGV):c.1344G>A (p.Lys448=)	PIGV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2830867	NM_017837.4(PIGV):c.1044T>A (p.Thr348=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2797762	NM_017837.4(PIGV):c.1080G>A (p.Arg360=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2780563	NM_017837.4(PIGV):c.1479A>G (p.Thr493=)	PIGV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2778134	NM_017837.4(PIGV):c.660C>T (p.Gly220=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2777291	NM_017837.4(PIGV):c.771T>C (p.Tyr257=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2761915	NM_017837.4(PIGV):c.285G>C (p.Leu95=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2757464	NM_017837.4(PIGV):c.474C>T (p.Ser158=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2745708	NM_017837.4(PIGV):c.1158T>C (p.Ala386=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2741966	NM_017837.4(PIGV):c.420G>T (p.Leu140=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2730748	NM_017837.4(PIGV):c.732G>C (p.Ser244=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2729202	NM_017837.4(PIGV):c.78+20T>G	PIGV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724500	NM_017837.4(PIGV):c.1431T>C (p.Thr477=)	PIGV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2708357	NM_017837.4(PIGV):c.214T>C (p.Leu72=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2706593	NM_017837.4(PIGV):c.972G>A (p.Gln324=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2704731	NM_017837.4(PIGV):c.331C>T (p.Leu111=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2701242	NM_017837.4(PIGV):c.691C>T (p.Leu231=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2683704	NM_017837.4(PIGV):c.1425C>G (p.Phe475Leu)	PIGV (F101L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638548	NM_017837.4(PIGV):c.576T>C (p.Ser192=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2614932	NM_017837.4(PIGV):c.967A>G (p.Lys323Glu)	PIGV (K196E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2613441	NM_017837.4(PIGV):c.521C>A (p.Ala174Asp)	PIGV (A174D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606883	NM_017837.4(PIGV):c.739A>G (p.Thr247Ala)	PIGV (T120A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2559377	NM_017837.4(PIGV):c.218T>G (p.Phe73Cys)	PIGV (F73C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2542705	NM_017837.4(PIGV):c.449A>T (p.Tyr150Phe)	PIGV (Y150F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2504749	NM_017837.4(PIGV):c.-57-7G>A	PIGV	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2434853	NM_017837.4(PIGV):c.452C>T (p.Ala151Val)	PIGV (A151V +1 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 2434852	NM_017837.4(PIGV):c.320G>T (p.Gly107Val)	PIGV (G107V)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 2426361	NC_000001.10:g.(?_27120584)_(27124335_?)del	PIGV	Deletion	not provided	GUncertain significance
Select item 2318300	NM_017837.4(PIGV):c.1084A>G (p.Lys362Glu)	PIGV (K235E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2288768	NM_017837.4(PIGV):c.164T>C (p.Leu55Pro)	PIGV (L55P)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2260131	NM_017837.4(PIGV):c.1468C>G (p.Leu490Val)	PIGV (L281V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230334	NM_017837.4(PIGV):c.680T>C (p.Met227Thr)	PIGV (M100T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229103	NM_017837.4(PIGV):c.251A>G (p.Asn84Ser)	PIGV (N84S)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2192097	NM_017837.4(PIGV):c.324A>G (p.Leu108=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2191780	NM_017837.4(PIGV):c.700C>G (p.Leu234Val)	PIGV (L107V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2185410	NM_017837.4(PIGV):c.409C>G (p.Leu137Val)	PIGV (L10V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2185363	NM_017837.4(PIGV):c.742C>T (p.Leu248Phe)	PIGV (L248F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2174770	NM_017837.4(PIGV):c.198G>A (p.Trp66Ter)	PIGV (W66*)	Single nucleotide variant (nonsense +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 2171573	NM_017837.4(PIGV):c.334C>T (p.Arg112Cys)	PIGV (R112C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2168331	NM_017837.4(PIGV):c.565G>T (p.Val189Phe)	PIGV (V189F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2162171	NM_017837.4(PIGV):c.621G>A (p.Leu207=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2159629	NM_017837.4(PIGV):c.434C>T (p.Pro145Leu)	PIGV (P18L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2155564	NM_017837.4(PIGV):c.87C>G (p.Phe29Leu)	PIGV (F29L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2147506	NM_017837.4(PIGV):c.481A>C (p.Asn161His)	PIGV (N161H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2141208	NM_017837.4(PIGV):c.317G>A (p.Arg106Gln)	PIGV (R106Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2135233	NM_017837.4(PIGV):c.334C>A (p.Arg112Ser)	PIGV (R112S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2132103	NM_017837.4(PIGV):c.628G>A (p.Val210Ile)	PIGV (V83I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2130758	NM_017837.4(PIGV):c.498T>C (p.Ala166=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2124095	NM_017837.4(PIGV):c.1404A>G (p.Thr468=)	PIGV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2121498	NM_017837.4(PIGV):c.148G>T (p.Gly50Cys)	PIGV (G50C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2121297	NM_017837.4(PIGV):c.865G>A (p.Glu289Lys)	PIGV (E162K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2119588	NM_017837.4(PIGV):c.120C>T (p.Ala40=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2117589	NM_017837.4(PIGV):c.1201-3_1201-2dup	PIGV	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 2116104	NM_017837.4(PIGV):c.1392T>C (p.Cys464=)	PIGV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2104995	NM_017837.4(PIGV):c.960T>C (p.Tyr320=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2104678	NM_017837.4(PIGV):c.79-3C>T	PIGV	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2097196	NM_017837.4(PIGV):c.838G>T (p.Ala280Ser)	PIGV (A71S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2081643	NM_017837.4(PIGV):c.792_795delinsGTGGGGACAGTGCAAAACCAGACAACCCAGGTCATGAAGTGCAACTGCAGCCAACATGAAGAACAAGAAATTGAGTGATGCTACCGAAATCA (p.Cys264_Leu265delinsTrpTrpGlyGlnCysLysThrArgGlnProArgSerTer)	PIGV	Indel (nonsense +2 more)	not provided	GUncertain significance
Select item 2077184	NM_017837.4(PIGV):c.659G>T (p.Gly220Val)	PIGV (G93V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2074725	NM_017837.4(PIGV):c.181G>A (p.Gly61Ser)	PIGV (G61S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2074027	NM_017837.4(PIGV):c.1091A>G (p.Asn364Ser)	PIGV (N155S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2069423	NM_017837.4(PIGV):c.1200+1G>T	PIGV	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2055724	NM_017837.4(PIGV):c.1430C>T (p.Thr477Ile)	PIGV (T477I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055723	NM_017837.4(PIGV):c.577G>A (p.Val193Ile)	PIGV (V193I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2054247	NM_017837.4(PIGV):c.695G>A (p.Arg232Lys)	PIGV (R232K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2041978	NM_017837.4(PIGV):c.1353A>G (p.Arg451=)	PIGV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2038382	NM_017837.4(PIGV):c.531A>G (p.Thr177=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2034918	NM_017837.4(PIGV):c.37A>G (p.Arg13Gly)	PIGV (R13G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2032561	NM_017837.4(PIGV):c.663T>C (p.Phe221=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2032058	NM_017837.4(PIGV):c.180G>C (p.Leu60=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2031783	NM_017837.4(PIGV):c.1332A>C (p.Pro444=)	PIGV	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2015237	NM_017837.4(PIGV):c.288G>T (p.Leu96=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2007192	NM_017837.4(PIGV):c.828G>A (p.Leu276=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1999852	NM_017837.4(PIGV):c.1134G>A (p.Gln378=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1997218	NM_017837.4(PIGV):c.499G>A (p.Gly167Ser)	PIGV (G40S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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