"Ambry Genetics"[submitter] AND "TXNDC2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2490273	NM_032243.6(TXNDC2):c.-93+109G>C	TXNDC2 (K5N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353229	NM_032243.6(TXNDC2):c.-93+165T>G	TXNDC2 (L24R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397449	NM_032243.6(TXNDC2):c.-59C>T	TXNDC2 (P48L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317376	NM_032243.6(TXNDC2):c.-47T>G	TXNDC2 (L52R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250011	NM_032243.6(TXNDC2):c.-8T>C	TXNDC2 (F65S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360478	NM_032243.6(TXNDC2):c.25C>T (p.Arg9Cys)	TXNDC2 (R9C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461188	NM_032243.6(TXNDC2):c.101A>T (p.Gln34Leu)	TXNDC2 (Q101L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252210	NM_032243.6(TXNDC2):c.158C>A (p.Pro53His)	TXNDC2 (P120H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267624	NM_032243.6(TXNDC2):c.237G>C (p.Glu79Asp)	TXNDC2 (E146D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533947	NM_032243.6(TXNDC2):c.245T>C (p.Ile82Thr)	TXNDC2 (I82T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2386844	NM_032243.6(TXNDC2):c.298G>A (p.Ala100Thr)	TXNDC2 (A100T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297142	NM_032243.6(TXNDC2):c.304G>A (p.Val102Met)	TXNDC2 (V169M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2385546	NM_032243.6(TXNDC2):c.344C>G (p.Ala115Gly)	TXNDC2 (A115G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455017	NM_032243.6(TXNDC2):c.445C>T (p.Pro149Ser)	TXNDC2 (P216S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616971	NM_032243.6(TXNDC2):c.507G>C (p.Glu169Asp)	TXNDC2 (E169D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270495	NM_032243.6(TXNDC2):c.545C>A (p.Pro182His)	TXNDC2 (P249H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391116	NM_032243.6(TXNDC2):c.562C>T (p.Pro188Ser)	TXNDC2 (P188S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513382	NM_032243.6(TXNDC2):c.578A>G (p.Lys193Arg)	TXNDC2 (K260R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533839	NM_032243.6(TXNDC2):c.605T>C (p.Ile202Thr)	TXNDC2 (I269T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2380774	NM_032243.6(TXNDC2):c.633G>T (p.Gln211His)	TXNDC2 (Q211H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461184	NM_032243.6(TXNDC2):c.722A>G (p.Gln241Arg)	TXNDC2 (Q308R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391053	NM_032243.6(TXNDC2):c.752C>A (p.Pro251Gln)	TXNDC2 (P318Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213192	NM_032243.6(TXNDC2):c.817A>G (p.Lys273Glu)	TXNDC2 (K273E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271870	NM_032243.6(TXNDC2):c.986C>G (p.Ala329Gly)	TXNDC2 (A329G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404482	NM_032243.6(TXNDC2):c.1198G>A (p.Gly400Arg)	TXNDC2 (G400R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600774	NM_032243.6(TXNDC2):c.1402G>A (p.Asp468Asn)	TXNDC2 (D468N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26