"Ambry Genetics"[submitter] AND "TMCO1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178296	NM_019026.6(TMCO1):c.533T>C (p.Leu178Pro)	TMCO1 (L166P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521929	NM_019026.6(TMCO1):c.391C>T (p.Arg131Ter)	TMCO1 (R148* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 521850	NM_019026.6(TMCO1):c.372C>A (p.Tyr124Ter)	TMCO1 (Y141* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2281638	NM_019026.6(TMCO1):c.367T>C (p.Ser123Pro)	TMCO1 (S111P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293830	NM_019026.6(TMCO1):c.340G>T (p.Val114Leu)	TMCO1 (V114L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316832	NM_019026.6(TMCO1):c.337G>C (p.Val113Leu)	TMCO1 (V113L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 420165	NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)	TMCO1	Microsatellite (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2258675	NM_019026.6(TMCO1):c.52A>C (p.Thr18Pro)	TMCO1 (T18P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance