"Ambry Genetics"[submitter] AND "TRAF3IP2-AS1"[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 2274296	NM_147686.4(TRAF3IP2):c.1661G>A (p.Arg554Gln)	TRAF3IP2, TRAF3IP2-AS1 (R553Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251910	NM_147686.4(TRAF3IP2):c.1424C>T (p.Ser475Leu)	TRAF3IP2, TRAF3IP2-AS1 (S474L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1000396	NM_147686.4(TRAF3IP2):c.1417G>A (p.Ala473Thr)	TRAF3IP2, TRAF3IP2-AS1 (A17T +3 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GUncertain significance
Select item 860464	NM_147686.4(TRAF3IP2):c.1378G>A (p.Val460Ile)	TRAF3IP2, TRAF3IP2-AS1 (V460I +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 567507	NM_147686.4(TRAF3IP2):c.1058G>A (p.Gly353Asp)	TRAF3IP2, TRAF3IP2-AS1 (G353D +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GUncertain significance
Select item 2255798	NM_147686.4(TRAF3IP2):c.1024G>A (p.Asp342Asn)	TRAF3IP2, TRAF3IP2-AS1 (D342N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 571515	NM_147686.4(TRAF3IP2):c.982G>A (p.Ala328Thr)	TRAF3IP2, TRAF3IP2-AS1 (A328T +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GUncertain significance
Select item 2604759	NM_147686.4(TRAF3IP2):c.875C>T (p.Pro292Leu)	TRAF3IP2, TRAF3IP2-AS1 (P301L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675146	NM_147686.4(TRAF3IP2):c.869T>G (p.Ile290Ser)	TRAF3IP2, TRAF3IP2-AS1 (I290S +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +2 more	GUncertain significance
Select item 1399700	NM_147686.4(TRAF3IP2):c.868A>G (p.Ile290Val)	TRAF3IP2, TRAF3IP2-AS1 (I299V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 957805	NM_147686.4(TRAF3IP2):c.691C>G (p.Leu231Val)	LOC114803478, TRAF3IP2 +1 more (L231V +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GUncertain significance
Select item 842746	NM_147686.4(TRAF3IP2):c.661G>A (p.Val221Met)	LOC114803478, TRAF3IP2 +1 more (V230M +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GUncertain significance
Select item 2314759	NM_147686.4(TRAF3IP2):c.608C>T (p.Pro203Leu)	LOC114803478, TRAF3IP2 +1 more (P212L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181770	NM_147686.4(TRAF3IP2):c.499T>C (p.Ser167Pro)	LOC114803478, TRAF3IP2 +1 more (S167P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2063090	NM_147686.4(TRAF3IP2):c.440C>T (p.Ala147Val)	TRAF3IP2-AS1, LOC114803478 +1 more (A156V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3181769	NM_147686.4(TRAF3IP2):c.433C>G (p.Leu145Val)	LOC114803478, TRAF3IP2 +1 more (L145V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181768	NM_147686.4(TRAF3IP2):c.382G>C (p.Glu128Gln)	LOC114803478, TRAF3IP2 +1 more (E137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549968	NM_147686.4(TRAF3IP2):c.350C>A (p.Ala117Glu)	LOC114803478, TRAF3IP2 +1 more (A117E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1008330	NM_147686.4(TRAF3IP2):c.343G>A (p.Glu115Lys)	TRAF3IP2-AS1, LOC114803478 +1 more (E115K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2162005	NM_147686.4(TRAF3IP2):c.250C>T (p.Arg84Cys)	LOC114803478, TRAF3IP2 +1 more (R84C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2301748	NM_147686.4(TRAF3IP2):c.226G>C (p.Val76Leu)	LOC114803478, TRAF3IP2 +1 more (V85L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610976	NM_147686.4(TRAF3IP2):c.143C>T (p.Ser48Phe)	TRAF3IP2, TRAF3IP2-AS1 (S57F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1944314	NM_147686.4(TRAF3IP2):c.135C>G (p.Asn45Lys)	TRAF3IP2, TRAF3IP2-AS1 (N45K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 649481	NM_147686.4(TRAF3IP2):c.109C>T (p.Pro37Ser)	TRAF3IP2, TRAF3IP2-AS1 (P37S +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GUncertain significance
Select item 1361311	NM_147686.4(TRAF3IP2):c.83C>T (p.Pro28Leu)	TRAF3IP2, TRAF3IP2-AS1 (P28L +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GConflicting classifications of pathogenicity
Select item 953408	NM_147686.4(TRAF3IP2):c.54G>T (p.Gln18His)	TRAF3IP2, TRAF3IP2-AS1 (Q18H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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