ClinVar for Gene (Select 5966) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256112	NM_001291746.2(REL):c.659T>C (p.Phe220Ser)	REL (F220S)	Single nucleotide variant (missense variant)	Immunodeficiency 92	GUncertain significance
Select item 3152888	NM_001291746.2(REL):c.892C>G (p.Leu298Val)	REL (L298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152887	NM_001291746.2(REL):c.281G>A (p.Gly94Glu)	REL (G94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152886	NM_001291746.2(REL):c.157A>G (p.Met53Val)	REL (M53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3003937	NM_001291746.2(REL):c.528T>C (p.Tyr176=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003801	NM_001291746.2(REL):c.1366C>G (p.Pro456Ala)	REL (P488A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909687	NM_001291746.2(REL):c.1509G>C (p.Gln503His)	REL (Q503H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905257	NM_001291746.2(REL):c.879A>G (p.Lys293=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904275	NM_001291746.2(REL):c.435C>T (p.Leu145=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898560	NM_001291746.2(REL):c.804C>T (p.Asp268=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892802	NM_001291746.2(REL):c.57G>A (p.Arg19=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892592	NM_001291746.2(REL):c.1083C>T (p.Pro361=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880860	NM_001291746.2(REL):c.303-9dup	REL	Duplication (intron variant)	not provided	GBenign
Select item 2876273	NM_001291746.2(REL):c.711C>T (p.His237=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873223	NM_001291746.2(REL):c.154-12C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873106	NM_001291746.2(REL):c.768C>T (p.Pro256=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871671	NM_001291746.2(REL):c.192A>C (p.Thr64=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870031	NM_001291746.2(REL):c.923-15del	REL	Deletion (intron variant)	not provided	GBenign
Select item 2869315	NM_001291746.2(REL):c.1608T>C (p.Ser536=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868755	NM_001291746.2(REL):c.853+8A>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868680	NM_001291746.2(REL):c.516G>A (p.Ser172=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864614	NM_001291746.2(REL):c.303-19A>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851461	NM_001291746.2(REL):c.854-12C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837638	NM_001291746.2(REL):c.923-142A>C	REL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824163	NM_001291746.2(REL):c.922+1G>A	REL	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2823839	NM_001291746.2(REL):c.394+8T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818562	NM_001291746.2(REL):c.854-6A>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818561	NM_001291746.2(REL):c.854-8del	REL	Deletion (intron variant)	not provided	GLikely benign
Select item 2817470	NM_001291746.2(REL):c.1692G>A (p.Gln564=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811738	NM_001291746.2(REL):c.853+9T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807915	NM_001291746.2(REL):c.303-13T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804420	NM_001291746.2(REL):c.302+8C>A	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803027	NM_001291746.2(REL):c.1474T>G (p.Cys492Gly)	REL (C524G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798792	NM_001291746.2(REL):c.923-19A>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797513	NM_001291746.2(REL):c.11G>A (p.Gly4Asp)	REL (G4D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794423	NM_001291746.2(REL):c.922+19G>A	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789933	NM_001291746.2(REL):c.154-14C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788915	NM_001291746.2(REL):c.1761A>G (p.Val587=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788164	NM_001291746.2(REL):c.807G>A (p.Gln269=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786425	NM_001291746.2(REL):c.1473A>G (p.Ser491=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781196	NM_001291746.2(REL):c.923-184_923-183del	REL (G311fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2780696	NM_001291746.2(REL):c.1546G>A (p.Ala516Thr)	REL (A516T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779409	NM_001291746.2(REL):c.640+13T>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779167	NM_001291746.2(REL):c.303-6T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777772	NM_001291746.2(REL):c.555A>G (p.Glu185=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775621	NM_001291746.2(REL):c.330G>T (p.Val110=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769080	NM_001291746.2(REL):c.684A>G (p.Lys228=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748213	NM_001291746.2(REL):c.1314C>T (p.Val438=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747785	NM_001291746.2(REL):c.10+8T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747289	NM_001291746.2(REL):c.498T>C (p.Ala166=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744659	NM_001291746.2(REL):c.923-140C>G	REL (S325*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2744199	NM_001291746.2(REL):c.923-176G>A	REL (R313H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2744143	NM_001291746.2(REL):c.1143A>C (p.Ser381=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740914	NM_001291746.2(REL):c.475G>A (p.Glu159Lys)	REL (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740731	NM_001291746.2(REL):c.1545C>T (p.Gly515=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738066	NM_001291746.2(REL):c.992-20A>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737015	NM_001291746.2(REL):c.923-151A>G	REL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2729289	NM_001291746.2(REL):c.1215T>C (p.Pro405=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721260	NM_001291746.2(REL):c.1158C>A (p.Pro386=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720841	NM_001291746.2(REL):c.923-196T>C	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720753	NM_001291746.2(REL):c.297T>A (p.Pro99=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709063	NM_001291746.2(REL):c.910_911del (p.Cys304fs)	REL (C304fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2707505	NM_001291746.2(REL):c.345A>G (p.Val115=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698567	NM_001291746.2(REL):c.1148T>C (p.Val383Ala)	REL (V383A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697521	NM_001291746.2(REL):c.303-4C>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696894	NM_001291746.2(REL):c.302+19A>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688308	NM_001291746.2(REL):c.11-79A>G	REL	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688192	NM_001291746.2(REL):c.154-40G>A	REL	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2650970	NM_001291746.2(REL):c.906A>G (p.Lys302=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629360	NM_001291746.2(REL):c.589A>G (p.Ser197Gly)	REL (S197G)	Single nucleotide variant (missense variant)	REL-related disorder	GUncertain significance
Select item 2608516	NM_001291746.2(REL):c.604G>A (p.Asp202Asn)	REL (D202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601587	NM_001291746.2(REL):c.176G>C (p.Gly59Ala)	REL (G59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486343	NM_001291746.2(REL):c.713G>A (p.Arg238His)	REL (R238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427933	NM_001291746.2(REL):c.313T>C (p.Leu105=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2424572	NC_000002.11:g.(?_61108976)_(61275905_?)dup	PEX13, PUS10 +1 more	Duplication	not provided	GUncertain significance
Select item 2424571	NC_000002.11:g.(?_61108976)_(61275905_?)del	PUS10, PEX13 +1 more	Deletion	not provided	GPathogenic
Select item 2414967	NM_001291746.2(REL):c.923-201G>T	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2380842	NM_001291746.2(REL):c.1556A>G (p.Asn519Ser)	REL (N551S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372590	NM_001291746.2(REL):c.766C>T (p.Pro256Ser)	REL (P256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355477	NM_001291746.2(REL):c.1532G>A (p.Ser511Asn)	REL (S511N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254889	NM_001291746.2(REL):c.1204A>G (p.Arg402Gly)	REL (R434G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217016	NM_001291746.2(REL):c.1165C>T (p.Arg389Cys)	REL (R389C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203267	NM_001291746.2(REL):c.1638G>A (p.Ser546=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187485	NM_001291746.2(REL):c.995C>T (p.Pro332Leu)	REL (P332L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186655	NM_001291746.2(REL):c.1114A>G (p.Met372Val)	REL (M372V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2184758	NM_001291746.2(REL):c.1303G>A (p.Asp435Asn)	REL (D435N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2181984	NM_001291746.2(REL):c.492G>A (p.Thr164=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181454	NM_001291746.2(REL):c.1064A>C (p.Tyr355Ser)	REL (Y387S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179344	NM_001291746.2(REL):c.1709G>A (p.Ser570Asn)	REL (S602N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178806	NM_001291746.2(REL):c.491C>T (p.Thr164Met)	REL (T164M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176381	NM_001291746.2(REL):c.767C>A (p.Pro256His)	REL (P256H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175345	NM_001291746.2(REL):c.1428G>A (p.Glu476=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173392	NM_001291746.2(REL):c.1567T>G (p.Phe523Val)	REL (F523V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167041	NM_001291746.2(REL):c.640+2TATT[2]	REL	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 2157179	NM_001291746.2(REL):c.1018G>A (p.Val340Ile)	REL (V372I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2152726	NM_001291746.2(REL):c.1065C>T (p.Tyr355=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148760	NM_001291746.2(REL):c.1467C>T (p.Asn489=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148348	NM_001291746.2(REL):c.861C>T (p.Tyr287=)	REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144759	NM_001291746.2(REL):c.834A>G (p.Arg278=)	REL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2129976	NM_001291746.2(REL):c.394+20T>G	REL	Single nucleotide variant (intron variant)	not provided	GLikely benign

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