Related gene-specific medical variations for Gene (Select 112970) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289789	NM_138417.3(KTI12):c.601G>A (p.Gly201Ser)	KTI12, TXNDC12 (G201S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3117194	NM_138417.3(KTI12):c.844C>G (p.Leu282Val)	KTI12, TXNDC12 (L282V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117192	NM_138417.3(KTI12):c.598T>G (p.Ser200Ala)	KTI12, TXNDC12 (S200A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117191	NM_138417.3(KTI12):c.454C>T (p.Leu152Phe)	KTI12, TXNDC12 (L152F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117190	NM_138417.3(KTI12):c.423C>G (p.Asp141Glu)	KTI12, TXNDC12 (D141E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117189	NM_138417.3(KTI12):c.326G>C (p.Arg109Pro)	KTI12, TXNDC12 (R109P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117188	NM_138417.3(KTI12):c.307T>G (p.Cys103Gly)	KTI12, TXNDC12 (C103G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117187	NM_138417.3(KTI12):c.286C>T (p.Arg96Trp)	KTI12, TXNDC12 (R96W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619537	NM_138417.3(KTI12):c.814C>T (p.His272Tyr)	KTI12, TXNDC12 (H272Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613600	NM_138417.3(KTI12):c.1001A>G (p.Asn334Ser)	KTI12, TXNDC12 (N334S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2562307	NM_138417.3(KTI12):c.566C>G (p.Thr189Ser)	KTI12, TXNDC12 (T189S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481125	NM_138417.3(KTI12):c.713C>T (p.Pro238Leu)	KTI12, TXNDC12 (P238L)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2459422	NM_138417.3(KTI12):c.254A>G (p.Lys85Arg)	KTI12, TXNDC12 (K85R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458110	NM_138417.3(KTI12):c.819G>T (p.Gln273His)	KTI12, TXNDC12 (Q273H)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2341173	NM_138417.3(KTI12):c.680G>A (p.Arg227Gln)	KTI12, TXNDC12 (R227Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331665	NM_138417.3(KTI12):c.1051C>G (p.Gln351Glu)	KTI12, TXNDC12 (Q351E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293121	NM_138417.3(KTI12):c.1052A>G (p.Gln351Arg)	KTI12, TXNDC12 (Q351R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283572	NM_138417.3(KTI12):c.497C>T (p.Ala166Val)	KTI12, TXNDC12 (A166V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2269355	NM_138417.3(KTI12):c.103G>A (p.Val35Met)	KTI12, LOC129930536 +1 more (V35M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254436	NM_138417.3(KTI12):c.754C>G (p.Arg252Gly)	KTI12, TXNDC12 (R252G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Links from Gene

Items: 22