GOT1[gene] and "single gene"[properties] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2246285	NM_002079.3(GOT1):c.1225G>C (p.Val409Leu)	GOT1 (V409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 29724	NM_002079.3(GOT1):c.1165_1167del (p.Asn389del)	GOT1 (N389del)	Deletion (inframe_deletion)	Aspartate aminotransferase, serum level of, quantitative trait locus 1	GPathogenic
Select item 2617109	NM_002079.3(GOT1):c.1057C>T (p.His353Tyr)	GOT1 (H353Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382042	NM_002079.3(GOT1):c.1036A>G (p.Lys346Glu)	GOT1 (K346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101026	NM_002079.3(GOT1):c.945G>C (p.Glu315Asp)	GOT1 (E315D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101025	NM_002079.3(GOT1):c.914G>A (p.Arg305Gln)	GOT1 (R305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350195	NM_002079.3(GOT1):c.874G>A (p.Val292Met)	GOT1 (V292M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281985	NM_002079.3(GOT1):c.829G>C (p.Glu277Gln)	GOT1 (E277Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101024	NM_002079.3(GOT1):c.769T>G (p.Phe257Val)	GOT1 (F257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101023	NM_002079.3(GOT1):c.647G>A (p.Arg216Gln)	GOT1 (R216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713620	NM_002079.3(GOT1):c.643-5C>T	GOT1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3101022	NM_002079.3(GOT1):c.597T>G (p.Ile199Met)	GOT1 (I199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039802	NM_002079.3(GOT1):c.570C>T (p.His190=)	GOT1	Single nucleotide variant (synonymous variant)	GOT1-related disorder	GLikely benign
Select item 709106	NM_002079.3(GOT1):c.548A>G (p.Glu183Gly)	GOT1 (E183G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3047043	NM_002079.3(GOT1):c.479G>A (p.Arg160His)	GOT1 (R160H)	Single nucleotide variant (missense variant)	GOT1-related disorder	GLikely benign
Select item 3281984	NM_002079.3(GOT1):c.365G>A (p.Arg122His)	GOT1 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349659	NM_002079.3(GOT1):c.364C>T (p.Arg122Cys)	GOT1 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060094	NM_002079.3(GOT1):c.363G>A (p.Ala121=)	GOT1	Single nucleotide variant (synonymous variant)	GOT1-related disorder	GBenign
Select item 2248888	NM_002079.3(GOT1):c.257G>A (p.Arg86His)	GOT1 (R86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455073	NM_002079.3(GOT1):c.256C>T (p.Arg86Cys)	GOT1 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101021	NM_002079.3(GOT1):c.214C>A (p.Leu72Met)	GOT1 (L72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350647	NM_002079.3(GOT1):c.198C>G (p.Ser66Arg)	GOT1 (S66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316674	NM_002079.3(GOT1):c.172G>C (p.Glu58Gln)	GOT1 (E58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336097	NM_002079.3(GOT1):c.38C>T (p.Ala13Val)	GOT1 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 24