"Ambry Genetics"[submitter] AND "LOC130067862"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 223069	NM_001953.5(TYMP):c.1300+1G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1451054	NM_001953.5(TYMP):c.1279G>C (p.Val427Leu)	LOC130067862, SCO2 +1 more (V427L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2610040	NM_001953.5(TYMP):c.1241C>G (p.Pro414Arg)	LOC130067862, SCO2 +1 more (P419R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304611	NM_001953.5(TYMP):c.1208A>G (p.Glu403Gly)	LOC130067862, SCO2 +1 more (E403G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2605985	NM_001953.5(TYMP):c.1174G>T (p.Val392Phe)	LOC130067862, SCO2 +1 more (V397F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 985706	NM_001953.5(TYMP):c.1159+1G>A	SCO2, TYMP +1 more	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2512814	NM_001953.5(TYMP):c.1126C>T (p.Arg376Trp)	LOC130067862, SCO2 +1 more (R376W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304080	NM_001953.5(TYMP):c.959C>G (p.Ala320Gly)	LOC130067862, TYMP (A320G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance