"Ambry Genetics"[submitter] AND "TXNDC12"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2363005	NM_015913.4(TXNDC12):c.346C>G (p.Leu116Val)	TXNDC12 (L116V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293121	NM_138417.3(KTI12):c.1052A>G (p.Gln351Arg)	KTI12, TXNDC12 (Q351R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2331665	NM_138417.3(KTI12):c.1051C>G (p.Gln351Glu)	TXNDC12, KTI12 (Q351E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2613600	NM_138417.3(KTI12):c.1001A>G (p.Asn334Ser)	KTI12, TXNDC12 (N334S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2458110	NM_138417.3(KTI12):c.819G>T (p.Gln273His)	KTI12, TXNDC12 (Q273H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2619537	NM_138417.3(KTI12):c.814C>T (p.His272Tyr)	KTI12, TXNDC12 (H272Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2254436	NM_138417.3(KTI12):c.754C>G (p.Arg252Gly)	TXNDC12, KTI12 (R252G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2481125	NM_138417.3(KTI12):c.713C>T (p.Pro238Leu)	KTI12, TXNDC12 (P238L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2341173	NM_138417.3(KTI12):c.680G>A (p.Arg227Gln)	KTI12, TXNDC12 (R227Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2562307	NM_138417.3(KTI12):c.566C>G (p.Thr189Ser)	KTI12, TXNDC12 (T189S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2283572	NM_138417.3(KTI12):c.497C>T (p.Ala166Val)	TXNDC12, KTI12 (A166V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2459422	NM_138417.3(KTI12):c.254A>G (p.Lys85Arg)	KTI12, TXNDC12 (K85R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2269355	NM_138417.3(KTI12):c.103G>A (p.Val35Met)	KTI12, LOC129930536 +1 more (V35M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2358232	NM_138417.3(KTI12):c.50G>A (p.Arg17His)	KTI12, LOC129930536 +1 more (R17H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476124	NM_138417.3(KTI12):c.37G>T (p.Gly13Cys)	KTI12, LOC129930536 +1 more (G13C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2212679	NM_015913.4(TXNDC12):c.22G>A (p.Gly8Arg)	TXNDC12 (G8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607267	NM_015913.4(TXNDC12):c.13C>T (p.Pro5Ser)	TXNDC12 (P5S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance