"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1148 - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023751	NM_147686.4(TRAF3IP2):c.829+19_829+21del	LOC114803478, TRAF3IP2 +1 more	Microsatellite (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 1927722	NM_147686.4(TRAF3IP2):c.829+18C>T	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 1647928	NM_147686.4(TRAF3IP2):c.829+7G>A	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (intron variant)	Candidiasis, familial, 8	GLikely benign
Select item 2082253	NM_147686.4(TRAF3IP2):c.826C>A (p.Pro276Thr)	LOC114803478, TRAF3IP2 +1 more (P285T +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1041541	NM_147686.4(TRAF3IP2):c.822G>C (p.Gln274His)	LOC114803478, TRAF3IP2 +1 more (Q274H +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 626192	NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln)	LOC114803478, TRAF3IP2 +1 more (H273Q +1 more)	Single nucleotide variant (missense variant)	Psoriasis 13, susceptibility to +1 more	GConflicting classifications of pathogenicity
Select item 1423540	NM_147686.4(TRAF3IP2):c.814G>T (p.Asp272Tyr)	LOC114803478, TRAF3IP2 +1 more (D272Y +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1106655	NM_147686.4(TRAF3IP2):c.813C>T (p.Pro271=)	TRAF3IP2-AS1, LOC114803478 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 2113048	NM_147686.4(TRAF3IP2):c.811C>T (p.Pro271Ser)	LOC114803478, TRAF3IP2 +1 more (P280S +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 661674	NM_147686.4(TRAF3IP2):c.773A>G (p.His258Arg)	LOC114803478, TRAF3IP2 +1 more (H258R +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 570535	NM_147686.4(TRAF3IP2):c.767C>G (p.Ser256Cys)	LOC114803478, TRAF3IP2 +1 more (S256C +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1447600	NM_147686.4(TRAF3IP2):c.766T>C (p.Ser256Pro)	LOC114803478, TRAF3IP2 +1 more (S256P +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1055902	NM_147686.4(TRAF3IP2):c.764T>C (p.Leu255Pro)	TRAF3IP2-AS1, LOC114803478 +1 more (L255P +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 856196	NM_147686.4(TRAF3IP2):c.761A>G (p.Asn254Ser)	LOC114803478, TRAF3IP2 +1 more (N263S +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GUncertain significance
Select item 569438	NM_147686.4(TRAF3IP2):c.760A>G (p.Asn254Asp)	TRAF3IP2, TRAF3IP2-AS1 +1 more (N254D +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 541098	NM_147686.4(TRAF3IP2):c.758C>G (p.Pro253Arg)	LOC114803478, TRAF3IP2 +1 more (P253R +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2909049	NM_147686.4(TRAF3IP2):c.698_749del (p.Ser233fs)	LOC114803478, TRAF3IP2 +1 more (S233fs +1 more)	Deletion (frameshift variant)	Candidiasis, familial, 8	GPathogenic
Select item 1397622	NM_147686.4(TRAF3IP2):c.749T>A (p.Met250Lys)	LOC114803478, TRAF3IP2 +1 more (M259K +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 934857	NM_147686.4(TRAF3IP2):c.736G>A (p.Ala246Thr)	TRAF3IP2-AS1, LOC114803478 +1 more (A246T +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2026969	NM_147686.4(TRAF3IP2):c.724C>T (p.Gln242Ter)	LOC114803478, TRAF3IP2 +1 more (Q251* +1 more)	Single nucleotide variant (nonsense)	Candidiasis, familial, 8	GPathogenic
Select item 853708	NM_147686.4(TRAF3IP2):c.704A>C (p.Glu235Ala)	LOC114803478, TRAF3IP2 +1 more (E235A +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1397621	NM_147686.4(TRAF3IP2):c.701G>C (p.Arg234Thr)	LOC114803478, TRAF3IP2 +1 more (R243T +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2030115	NM_147686.4(TRAF3IP2):c.700A>C (p.Arg234=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
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 573542	NM_147686.4(TRAF3IP2):c.691C>T (p.Leu231Phe)	LOC114803478, TRAF3IP2 +1 more (L231F +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1521853	NM_147686.4(TRAF3IP2):c.676G>C (p.Asp226His)	LOC114803478, TRAF3IP2 +1 more (D235H +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1578843	NM_147686.4(TRAF3IP2):c.672C>G (p.Pro224=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
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 2723036	NM_147686.4(TRAF3IP2):c.660C>T (p.Ser220=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 474039	NM_147686.4(TRAF3IP2):c.649C>A (p.Pro217Thr)	TRAF3IP2-AS1, LOC114803478 +1 more (P217T +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GBenign/Likely benign
Select item 3021214	NM_147686.4(TRAF3IP2):c.648G>A (p.Leu216=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 652596	NM_147686.4(TRAF3IP2):c.641G>A (p.Arg214Lys)	TRAF3IP2-AS1, LOC114803478 +1 more (R223K +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1902351	NM_147686.4(TRAF3IP2):c.640A>G (p.Arg214Gly)	LOC114803478, TRAF3IP2 +1 more (R223G +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 939361	NM_147686.4(TRAF3IP2):c.625A>C (p.Ile209Leu)	LOC114803478, TRAF3IP2 +1 more (I209L +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2105000	NM_147686.4(TRAF3IP2):c.594A>C (p.Gly198=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1564842	NM_147686.4(TRAF3IP2):c.591G>A (p.Thr197=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1008771	NM_147686.4(TRAF3IP2):c.583A>G (p.Ile195Val)	LOC114803478, TRAF3IP2 +1 more (I195V +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1040300	NM_147686.4(TRAF3IP2):c.580A>G (p.Thr194Ala)	LOC114803478, TRAF3IP2 +1 more (T194A +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1541204	NM_147686.4(TRAF3IP2):c.570G>A (p.Leu190=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1009291	NM_147686.4(TRAF3IP2):c.566G>A (p.Gly189Asp)	LOC114803478, TRAF3IP2 +1 more (G189D +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2122745	NM_147686.4(TRAF3IP2):c.563C>T (p.Ala188Val)	LOC114803478, TRAF3IP2 +1 more (A188V +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1490539	NM_147686.4(TRAF3IP2):c.560_561delinsAT (p.Arg187His)	LOC114803478, TRAF3IP2 +1 more (R187H +1 more)	Indel (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 659314	NM_147686.4(TRAF3IP2):c.560G>A (p.Arg187Gln)	LOC114803478, TRAF3IP2 +1 more (R187Q +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1019055	NM_147686.4(TRAF3IP2):c.542C>T (p.Pro181Leu)	LOC114803478, TRAF3IP2 +1 more (P181L +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1110405	NM_147686.4(TRAF3IP2):c.537A>G (p.Gln179=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1024424	NM_147686.4(TRAF3IP2):c.531G>A (p.Met177Ile)	LOC114803478, TRAF3IP2-AS1 +1 more (M177I +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 567002	NM_147686.4(TRAF3IP2):c.521G>A (p.Ser174Asn)	LOC114803478, TRAF3IP2 +1 more (S174N +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 944025	NM_147686.4(TRAF3IP2):c.518G>A (p.Gly173Asp)	LOC114803478, TRAF3IP2 +1 more (G173D +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1013996	NM_147686.4(TRAF3IP2):c.517G>A (p.Gly173Ser)	LOC114803478, TRAF3IP2 +1 more (G173S +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1153190	NM_147686.4(TRAF3IP2):c.516C>T (p.Gly172=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1400234	NM_147686.4(TRAF3IP2):c.515G>A (p.Gly172Asp)	LOC114803478, TRAF3IP2 +1 more (G181D +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 541099	NM_147686.4(TRAF3IP2):c.508T>A (p.Ser170Thr)	LOC114803478, TRAF3IP2 +1 more (S170T +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GLikely benign
Select item 1146581	NM_147686.4(TRAF3IP2):c.507C>T (p.Asp169=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1043779	NM_147686.4(TRAF3IP2):c.497C>T (p.Ala166Val)	LOC114803478, TRAF3IP2 +1 more (A166V +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1394643	NM_147686.4(TRAF3IP2):c.476C>T (p.Ser159Leu)	LOC114803478, TRAF3IP2 +1 more (S168L +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2731596	NM_147686.4(TRAF3IP2):c.461A>G (p.His154Arg)	LOC114803478, TRAF3IP2 +1 more (H163R +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1433424	NM_147686.4(TRAF3IP2):c.454A>T (p.Thr152Ser)	LOC114803478, TRAF3IP2 +1 more (T152S +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1659797	NM_147686.4(TRAF3IP2):c.444T>C (p.Ala148=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1156552	NM_147686.4(TRAF3IP2):c.441G>A (p.Ala147=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
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 1582283	NM_147686.4(TRAF3IP2):c.438A>G (p.Ser146=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 575088	NM_147686.4(TRAF3IP2):c.410G>A (p.Arg137His)	LOC114803478, TRAF3IP2 +1 more (R137H +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1041546	NM_147686.4(TRAF3IP2):c.409C>T (p.Arg137Cys)	LOC114803478, TRAF3IP2 +1 more (R137C +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1473379	NM_147686.4(TRAF3IP2):c.385C>T (p.His129Tyr)	LOC114803478, TRAF3IP2 +1 more (H129Y +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1986536	NM_147686.4(TRAF3IP2):c.377C>A (p.Pro126His)	LOC114803478, TRAF3IP2 +1 more (P126H +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 1045651	NM_147686.4(TRAF3IP2):c.373C>T (p.Leu125Phe)	LOC114803478, TRAF3IP2 +1 more (L134F +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2145155	NM_147686.4(TRAF3IP2):c.351G>A (p.Ala117=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 2083346	NM_147686.4(TRAF3IP2):c.349del (p.Ala117fs)	LOC114803478, TRAF3IP2 +1 more (A117fs +1 more)	Deletion (frameshift variant)	Candidiasis, familial, 8	GPathogenic
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 1895847	NM_147686.4(TRAF3IP2):c.342C>T (p.Ser114=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 1099582	NM_147686.4(TRAF3IP2):c.312A>G (p.Lys104=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign
Select item 2144085	NM_147686.4(TRAF3IP2):c.299C>G (p.Pro100Arg)	LOC114803478, TRAF3IP2 +1 more (P109R +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 541100	NM_147686.4(TRAF3IP2):c.281G>A (p.Ser94Asn)	TRAF3IP2-AS1, LOC114803478 +1 more (S94N +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +2 more	GBenign/Likely benign
Select item 1947995	NM_147686.4(TRAF3IP2):c.259G>A (p.Val87Ile)	LOC114803478, TRAF3IP2 +1 more (V87I +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 2419463	NM_147686.4(TRAF3IP2):c.251G>A (p.Arg84His)	LOC114803478, TRAF3IP2 +1 more (R84H +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	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 581633	NM_147686.4(TRAF3IP2):c.237G>C (p.Gln79His)	LOC114803478, TRAF3IP2 +1 more (Q79H +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GLikely benign
Select item 967231	NM_147686.4(TRAF3IP2):c.233G>T (p.Arg78Leu)	LOC114803478, TRAF3IP2 +1 more (R87L +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 474040	NM_147686.4(TRAF3IP2):c.233G>A (p.Arg78Gln)	LOC114803478, TRAF3IP2 +1 more (R78Q +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 720205	NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly)	LOC114803478, TRAF3IP2 +1 more (R78G +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GConflicting classifications of pathogenicity
Select item 650314	NM_147686.4(TRAF3IP2):c.221G>A (p.Arg74Gln)	LOC114803478, TRAF3IP2 +1 more (R74Q +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8	GUncertain significance
Select item 403566	NM_147686.4(TRAF3IP2):c.220C>T (p.Arg74Trp)	LOC114803478, TRAF3IP2 +1 more (R74W +1 more)	Single nucleotide variant (missense variant)	Candidiasis, familial, 8 +1 more	GBenign
Select item 2025906	NM_147686.4(TRAF3IP2):c.207T>C (p.Leu69=)	LOC114803478, TRAF3IP2 +1 more	Single nucleotide variant (synonymous variant)	Candidiasis, familial, 8	GLikely benign

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Items: 83