GOT1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
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 2280624	NM_002079.3(GOT1):c.44C>T (p.Pro15Leu)	GOT1, LOC130004498 (P15L)	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
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 1460184	NC_000010.10:g.(?_100177321)_(101611388_?)del	ABCC2, CNNM1 +8 more	Deletion	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 43