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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2511051	NM_001281.3(TBCB):c.16G>A (p.Val6Met)	TBCB (V6M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393713	NM_001281.3(TBCB):c.26C>T (p.Pro9Leu)	TBCB (P9L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266506	NM_001281.3(TBCB):c.194G>A (p.Ser65Asn)	LOC130064285, TBCB (S14N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235951	NM_001281.3(TBCB):c.269A>G (p.His90Arg)	TBCB (H39R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592284	NM_001281.3(TBCB):c.281G>A (p.Arg94His)	TBCB (R43H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241724	NM_001281.3(TBCB):c.308G>C (p.Arg103Pro)	TBCB (R103P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293279	NM_001281.3(TBCB):c.361G>T (p.Val121Phe)	TBCB (V121F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487932	NM_001281.3(TBCB):c.391G>C (p.Gly131Arg)	TBCB (G131R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462278	NM_001281.3(TBCB):c.481G>T (p.Val161Leu)	TBCB (V110L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263671	NM_001281.3(TBCB):c.589T>A (p.Tyr197Asn)	TBCB (Y146N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205298	NM_001281.3(TBCB):c.598C>T (p.Pro200Ser)	TBCB (P149S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595438	NM_001281.3(TBCB):c.627T>A (p.Asn209Lys)	TBCB (N209K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250354	NM_001281.3(TBCB):c.632A>G (p.Lys211Arg)	TBCB (K211R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474205	NM_001281.3(TBCB):c.634C>T (p.Arg212Cys)	TBCB (R212C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463624	NM_001281.3(TBCB):c.718G>A (p.Gly240Arg)	TBCB (G189R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance