Related gene-specific medical variations for Gene (Select 120379) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3033454	NM_001931.5(DLAT):c.1677+9T>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	DLAT-related condition	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 2747232	NM_001931.5(DLAT):c.1515-13dup	DLAT, PIH1D2	Duplication (intron variant)	Pyruvate dehydrogenase E2 deficiency	GBenign
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 2474034	NM_001931.5(DLAT):c.1588C>A (p.His530Asn)	PIH1D2, DLAT (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 2370297	NM_001931.5(DLAT):c.*1661G>A	DLAT, PIH1D2 (A280V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2342392	NM_001931.5(DLAT):c.1840G>T (p.Val614Phe)	PIH1D2, DLAT (V572F +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330340	NM_001931.5(DLAT):c.1861C>T (p.Arg621Trp)	PIH1D2, DLAT (R467W +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2189345	NM_001931.5(DLAT):c.1677+9T>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GLikely benign
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 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 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 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 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 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 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 1661511	NM_001931.5(DLAT):c.1735A>G (p.Ile579Val)	DLAT, PIH1D2 (I579V +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1623365	NM_001931.5(DLAT):c.1678-8del	DLAT, PIH1D2	Deletion (intron variant)	Pyruvate dehydrogenase E2 deficiency	GBenign
Select item 1612896	NM_001931.5(DLAT):c.1678-7C>T	DLAT, PIH1D2	Single nucleotide variant (intron variant)	DLAT-related condition +1 more	GLikely benign
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 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 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 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 1441962	NM_001931.5(DLAT):c.1677+4G>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E2 deficiency	GUncertain significance
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 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 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 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 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 1251878	NM_001931.5(DLAT):c.1815-42A>G	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 674119	NM_001931.5(DLAT):c.1515-214G>A	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559128	NM_001931.5(DLAT):c.1678-32_1678-31insAA	DLAT, PIH1D2	Insertion (intron variant)	not provided	GBenign
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 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 510907	NM_001931.5(DLAT):c.1542G>A (p.Ala514=)	DLAT, PIH1D2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 387127	NM_001931.5(DLAT):c.1678-12T>C	DLAT, PIH1D2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 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

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Items: 50