PIH1D2[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 145533	GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3	ALG9, BCO2 +45 more	Copy number gain	See cases	GUncertain significance
Select item 674119	NM_001931.5(DLAT):c.1515-214G>A	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199003	NM_001931.5(DLAT):c.1515-93A>T	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179224	NM_001931.5(DLAT):c.1515-51C>T	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2747232	NM_001931.5(DLAT):c.1515-13dup	DLAT, PIH1D2	Duplication (intron variant)	Pyruvate dehydrogenase E2 deficiency	GBenign
Select item 2149923	NM_001931.5(DLAT):c.1515-7T>A	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 3068980	NM_001931.5(DLAT):c.1515A>C (p.Gln505His)	PIH1D2, DLAT (Q351H +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1477468	NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn)	DLAT, PIH1D2 (S371N +11 more)	Single nucleotide variant (missense variant +2 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1696212	NM_001931.5(DLAT):c.1541C>T (p.Ala514Val)	DLAT, PIH1D2 (A360V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1594249	NM_001931.5(DLAT):c.1542G>C (p.Ala514=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 510907	NM_001931.5(DLAT):c.1542G>A (p.Ala514=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 559127	NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile)	DLAT, PIH1D2 (S516I +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1362932	NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala)	PIH1D2, DLAT (T382A +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2474034	NM_001931.5(DLAT):c.1588C>A (p.His530Asn)	DLAT, PIH1D2 (H389N +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2440799	NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)	DLAT, PIH1D2 (I377V +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1211510	NM_001931.5(DLAT):c.1598G>A (p.Gly533Glu)	DLAT, PIH1D2 (G379E +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1305220	NM_001931.5(DLAT):c.1621G>A (p.Val541Ile)	DLAT, PIH1D2 (V387I +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 785773	NM_001931.5(DLAT):c.1636A>G (p.Thr546Ala)	DLAT, PIH1D2 (T490A +12 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1386215	NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly)	DLAT, PIH1D2 (R408G +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1355672	NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln)	DLAT, PIH1D2 (P450Q +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1507602	NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)	DLAT, PIH1D2 (E464K +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1441962	NM_001931.5(DLAT):c.1677+4G>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 512400	NM_001931.5(DLAT):c.1677+8A>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 3033454	NM_001931.5(DLAT):c.1677+9T>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	DLAT-related disorder	GLikely benign
Select item 2189345	NM_001931.5(DLAT):c.1677+9T>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2201490	NM_001931.5(DLAT):c.1677+21_1677+24del	DLAT, PIH1D2	Deletion (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 559128	NM_001931.5(DLAT):c.1678-32_1678-31insAA	DLAT, PIH1D2	Insertion (intron variant)	not provided	GBenign
Select item 1623365	NM_001931.5(DLAT):c.1678-8del	DLAT, PIH1D2	Deletion (intron variant)	Pyruvate dehydrogenase E2 deficiency	GBenign
Select item 387127	NM_001931.5(DLAT):c.1678-12T>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1612896	NM_001931.5(DLAT):c.1678-7C>T	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency +1 more	GLikely benign
Select item 302462	NM_001931.5(DLAT):c.1692G>A (p.Thr564=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2804546	NM_001931.5(DLAT):c.1695C>A (p.Ile565=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 1426316	NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)	DLAT, PIH1D2 (L414S +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 838535	NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)	DLAT, PIH1D2 (F569S +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2110	NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)	DLAT, PIH1D2 (F576L +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely pathogenic
Select item 1661511	NM_001931.5(DLAT):c.1735A>G (p.Ile579Val)	DLAT, PIH1D2 (I579V +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 734507	NM_001931.5(DLAT):c.1743C>T (p.Asn581=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2007946	NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)	DLAT, PIH1D2 (G450C +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2589372	NM_001931.5(DLAT):c.1774G>A (p.Ala592Thr)	DLAT, PIH1D2 (A487T +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1976304	NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)	DLAT, PIH1D2 (D490G +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1506554	NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp)	DLAT, PIH1D2	Duplication (inframe_insertion +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1251878	NM_001931.5(DLAT):c.1815-42A>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384239	NM_001931.5(DLAT):c.1815-17T>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382218	NM_001931.5(DLAT):c.1815-15T>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency +1 more	GBenign/Likely benign
Select item 1717122	NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)	DLAT, PIH1D2 (V454E +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 2342392	NM_001931.5(DLAT):c.1840G>T (p.Val614Phe)	DLAT, PIH1D2 (V572F +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2145626	NM_001931.5(DLAT):c.1851T>C (p.Ser617=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
Select item 2330340	NM_001931.5(DLAT):c.1861C>T (p.Arg621Trp)	DLAT, PIH1D2 (R467W +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1897301	NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)	DLAT, PIH1D2 (V567L +12 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
Select item 1238307	NM_001931.5(DLAT):c.*96C>A	DLAT, PIH1D2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2370297	NM_001931.5(DLAT):c.*1661G>A	DLAT, PIH1D2 (A280V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212871	NM_138789.4(PIH1D2):c.839A>T (p.Glu280Val)	PIH1D2 (E280V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266646	NM_138789.4(PIH1D2):c.712A>C (p.Lys238Gln)	PIH1D2 (K238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290404	NM_138789.4(PIH1D2):c.690G>A (p.Met230Ile)	PIH1D2 (M230I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404611	NM_138789.4(PIH1D2):c.641C>T (p.Ala214Val)	PIH1D2 (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393036	NM_138789.4(PIH1D2):c.635G>C (p.Gly212Ala)	PIH1D2 (G212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316045	NM_138789.4(PIH1D2):c.611T>C (p.Leu204Ser)	PIH1D2 (L204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353765	NM_138789.4(PIH1D2):c.593A>G (p.Asp198Gly)	PIH1D2 (D198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456134	NM_138789.4(PIH1D2):c.473G>C (p.Ser158Thr)	PIH1D2 (S158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212869	NM_138789.4(PIH1D2):c.472A>C (p.Ser158Arg)	PIH1D2 (S158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212868	NM_138789.4(PIH1D2):c.427A>T (p.Thr143Ser)	PIH1D2 (T143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212867	NM_138789.4(PIH1D2):c.244A>G (p.Thr82Ala)	PIH1D2 (T82A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2250326	NM_138789.4(PIH1D2):c.73A>C (p.Ser25Arg)	PIH1D2 (S25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684655	GRCh37/hg19 11q23.1(chr11:111855954-112293098)x3	BCO2, DIXDC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	NKAPD1, POU2AF1 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	ALG9, BTG4 +20 more	Deletion	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 2422869	NC_000011.9:g.(?_111171709)_(112104278_?)dup	ALG9, BCO2 +24 more	Duplication	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 1808702	GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1	ALG9, ANKK1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410524	NC_000011.9:g.(?_111779478)_(111961866_?)dup	C11orf52, CRYAB +7 more	Duplication	Dilated cardiomyopathy 1II	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 1003647	NC_000011.9:g.(?_111171709)_(111965694_?)dup	PIH1D2, POU2AF1 +20 more	Duplication	Cowden syndrome 3 +3 more	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831566	NC_000011.9:g.(?_111171709)_(111965694_?)del	DIXDC1, DLAT +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 815468	GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1	AASDHPPT, ACAT1 +68 more	Copy number loss	not provided	GPathogenic
Select item 815462	GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1	AASDHPPT, ACAT1 +76 more	Copy number loss	not provided	GPathogenic
Select item 688245	GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1	ALG9, ANKK1 +45 more	Copy number loss	not provided	GUncertain significance
Select item 688050	GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1	AASDHPPT, ACAT1 +80 more	Copy number loss	not provided	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 85