ClinVar for Gene (Select 8050) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368425	NM_003477.3(PDHX):c.1391G>T (p.Arg464Leu)	PDHX (R237L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363107	NM_003477.3(PDHX):c.1019T>A (p.Leu340His)	PDHX (L280H +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 3341997	NM_003477.3(PDHX):c.443del (p.Gly148fs)	PDHX (G148fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3338992	NM_003477.3(PDHX):c.-195_-180dup16	PDHX	Duplication (genic upstream transcript variant +1 more)	not specified	GUncertain significance
Select item 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	GUncertain significance
Select item 3305508	NM_003477.3(PDHX):c.1429G>C (p.Val477Leu)	PDHX (V477L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305507	NM_003477.3(PDHX):c.118G>A (p.Gly40Arg)	LOC130005549, PDHX (G40R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305506	NM_003477.3(PDHX):c.1337G>A (p.Arg446Gln)	PDHX (R446Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305505	NM_003477.3(PDHX):c.245A>T (p.Glu82Val)	PDHX (E82V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244749	NC_000011.9:g.(?_34938203)_(34938382_?)del	PDHX	Deletion	not provided	GPathogenic
Select item 3242524	Single allele	PDHX	Deletion	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 3210871	NM_003477.3(PDHX):c.844A>G (p.Asn282Asp)	PDHX (N222D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3210870	NM_003477.3(PDHX):c.814G>T (p.Val272Leu)	PDHX (V212L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210869	NM_003477.3(PDHX):c.752C>T (p.Ala251Val)	PDHX (A251V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210866	NM_003477.3(PDHX):c.1462A>G (p.Lys488Glu)	PDHX (K488E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3210865	NM_003477.3(PDHX):c.1382T>G (p.Leu461Arg)	PDHX (L461R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127824	NM_015957.4(APIP):c.26G>C (p.Gly9Ala)	APIP, LOC130005547 +1 more (G9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064939	NM_003477.3(PDHX):c.1023+2267A>G	PDHX	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 3062319	NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)	LOC130005549, PDHX (R24*)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 2988299	NM_003477.3(PDHX):c.817-9T>C	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901117	NM_003477.3(PDHX):c.964+11T>C	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847963	NM_003477.3(PDHX):c.1335C>T (p.Phe445=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818521	NM_003477.3(PDHX):c.1373del (p.Asn458fs)	PDHX (N231fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2782785	NM_003477.3(PDHX):c.419_420del (p.His140fs)	PDHX (H80fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2757267	NM_003477.3(PDHX):c.542+1G>C	PDHX	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2744640	NM_003477.3(PDHX):c.343-11T>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732571	NM_003477.3(PDHX):c.249G>A (p.Ala83=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2724482	NM_003477.3(PDHX):c.1379A>G (p.Lys460Arg)	PDHX (K400R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714741	NM_003477.3(PDHX):c.1248-4C>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2683144	NM_003477.3(PDHX):c.199A>G (p.Thr67Ala)	PDHX (T67A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627324	NM_003477.3(PDHX):c.1432G>C (p.Val478Leu)	PDHX (V251L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616749	NM_003477.3(PDHX):c.116G>C (p.Arg39Pro)	LOC130005549, PDHX (R39P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605477	NM_003477.3(PDHX):c.870A>T (p.Arg290Ser)	PDHX (R290S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582466	NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)	LOC130005549, PDHX (L13P)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 2541632	NM_003477.3(PDHX):c.1351C>A (p.Leu451Ile)	PDHX (L224I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535865	NM_003477.3(PDHX):c.623G>C (p.Arg208Pro)	PDHX (R208P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507160	NM_003477.3(PDHX):c.507C>G (p.Ile169Met)	PDHX (I109M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501716	NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)	PDHX (S204* +1 more)	Single nucleotide variant (nonsense +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 2498511	NM_003477.3(PDHX):c.965-319A>T	PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2477707	NM_003477.3(PDHX):c.19C>G (p.Leu7Val)	LOC130005549, PDHX (L7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476333	NM_003477.3(PDHX):c.1279G>A (p.Glu427Lys)	PDHX (E367K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445919	NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del	PDHX	Deletion	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 2441847	NM_003477.3(PDHX):c.1012dup (p.Val338fs)	PDHX (V278fs +1 more)	Duplication (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely pathogenic
Select item 2434638	NM_003477.3(PDHX):c.793A>G (p.Thr265Ala)	PDHX (T205A +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 2434637	NM_003477.3(PDHX):c.293C>T (p.Ala98Val)	PDHX (A38V +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 2434635	NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr)	PDHX (S246T +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 2434634	NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)	LOC130005549, PDHX (G8A)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 2424685	NC_000011.9:g.(?_34952931)_(34953051_?)dup	PDHX	Duplication	not provided	GUncertain significance
Select item 2424684	NC_000011.9:g.(?_34978911)_(34979150_?)del	PDHX	Deletion	not provided	GPathogenic
Select item 2415797	NM_003477.3(PDHX):c.242G>A (p.Gly81Asp)	PDHX (G21D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412719	NM_003477.3(PDHX):c.557del (p.Pro186fs)	PDHX (P126fs +1 more)	Deletion (frameshift variant +1 more)	Pyruvate dehydrogenase E3-binding protein deficiency	GPathogenic/Likely pathogenic
Select item 2360656	NM_003477.3(PDHX):c.250G>A (p.Val84Met)	PDHX (V24M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2337300	NM_003477.3(PDHX):c.1070A>G (p.Gln357Arg)	PDHX (Q297R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335373	NM_003477.3(PDHX):c.883A>G (p.Lys295Glu)	PDHX (K235E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315559	NM_003477.3(PDHX):c.155T>G (p.Leu52Arg)	LOC130005549, PDHX (L52R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287008	NM_003477.3(PDHX):c.917A>G (p.Asp306Gly)	PDHX (D306G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285582	NM_003477.3(PDHX):c.854G>A (p.Arg285Lys)	PDHX (R225K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279270	NM_003477.3(PDHX):c.817-3C>T	PDHX	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2264733	NM_003477.3(PDHX):c.310G>A (p.Ala104Thr)	PDHX (A44T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255092	NM_003477.3(PDHX):c.682A>T (p.Ile228Phe)	PDHX (I228F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248247	NM_003477.3(PDHX):c.520G>A (p.Glu174Lys)	PDHX (E174K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232432	NM_003477.3(PDHX):c.905A>G (p.Tyr302Cys)	PDHX (Y302C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230520	NM_003477.3(PDHX):c.1182+4T>A	PDHX	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2229226	NM_003477.3(PDHX):c.1305dup (p.Gln436fs)	PDHX (Q209fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2228863	NM_003477.3(PDHX):c.202A>G (p.Met68Val)	PDHX (M68V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225373	NM_003477.3(PDHX):c.769C>T (p.Arg257Trp)	PDHX (R197W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218738	NM_003477.3(PDHX):c.498G>T (p.Gln166His)	PDHX (Q106H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218710	NM_003477.3(PDHX):c.974A>C (p.Lys325Thr)	PDHX (K265T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2198377	NM_003477.3(PDHX):c.786A>G (p.Pro262=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2183429	NM_003477.3(PDHX):c.744G>A (p.Gln248=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2182635	NM_003477.3(PDHX):c.1455G>A (p.Arg485=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175248	NM_003477.3(PDHX):c.161-2A>G	PDHX	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2174076	NM_003477.3(PDHX):c.535A>G (p.Thr179Ala)	PDHX (T179A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167674	NM_003477.3(PDHX):c.1182+7C>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2166333	NM_003477.3(PDHX):c.434A>G (p.Lys145Arg)	PDHX (K85R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2162444	NM_003477.3(PDHX):c.644A>G (p.Asp215Gly)	PDHX (D215G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2159576	NM_003477.3(PDHX):c.295G>C (p.Val99Leu)	PDHX (V99L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159311	NM_003477.3(PDHX):c.47A>G (p.Tyr16Cys)	LOC130005549, PDHX (Y16C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2159190	NM_003477.3(PDHX):c.320A>T (p.Asp107Val)	PDHX (D107V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158386	NM_003477.3(PDHX):c.1231C>T (p.Gln411Ter)	PDHX (Q411* +2 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GPathogenic
Select item 2154897	NM_003477.3(PDHX):c.933T>C (p.Ala311=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2151883	NM_003477.3(PDHX):c.701C>T (p.Thr234Ile)	PDHX (T174I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2151266	NM_003477.3(PDHX):c.501T>A (p.Ile167=)	PDHX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2144041	NM_003477.3(PDHX):c.1024-7T>C	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2143154	NM_003477.3(PDHX):c.1440C>T (p.Asp480=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126127	NM_003477.3(PDHX):c.359A>G (p.Lys120Arg)	PDHX (K120R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121535	NM_003477.3(PDHX):c.323G>A (p.Gly108Glu)	PDHX (G108E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121460	NM_003477.3(PDHX):c.1089T>G (p.Ile363Met)	PDHX (I303M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108971	NM_003477.3(PDHX):c.5C>T (p.Ala2Val)	LOC130005549, PDHX (A2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097874	NM_003477.3(PDHX):c.1436A>G (p.Asp479Gly)	PDHX (D419G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094021	NM_003477.3(PDHX):c.28G>A (p.Asp10Asn)	LOC130005549, PDHX (D10N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084084	NM_003477.3(PDHX):c.1048T>C (p.Trp350Arg)	PDHX (W350R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079115	NM_003477.3(PDHX):c.80G>A (p.Gly27Glu)	LOC130005549, PDHX (G27E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079016	NM_003477.3(PDHX):c.919T>C (p.Cys307Arg)	PDHX (C247R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2076472	NM_003477.3(PDHX):c.518A>G (p.Lys173Arg)	PDHX (K173R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065861	NM_003477.3(PDHX):c.1182+21_1182+22del	PDHX	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2061876	NM_003477.3(PDHX):c.1233A>G (p.Gln411=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061207	NM_003477.3(PDHX):c.800G>C (p.Gly267Ala)	PDHX (G207A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2060358	NM_003477.3(PDHX):c.1032A>G (p.Pro344=)	PDHX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046054	NM_003477.3(PDHX):c.1182+8T>G	PDHX	Single nucleotide variant (intron variant)	not provided	GLikely benign

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