ClinVar for MedGen (Select 767454) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244333	NC_000012.11:g.(?_6554691)_(6560069_?)dup	CD27	Duplication	Lymphoproliferative syndrome 2	GPathogenic
Select item 3244332	NC_000012.11:g.(?_6559440)_(6560401_?)del	CD27	Deletion	Lymphoproliferative syndrome 2	GLikely pathogenic
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2997363	NM_001242.5(CD27):c.269-8T>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2986671	NM_001242.5(CD27):c.525T>C (p.Ser175=)	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2963723	NM_001242.5(CD27):c.762G>A (p.Pro254=)	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2954993	NM_001242.5(CD27):c.201G>A (p.Pro67=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2920770	NM_001242.5(CD27):c.515G>A (p.Arg172Gln)	CD27, CD27-AS1 (R203Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2919333	NM_001242.5(CD27):c.538+11T>G	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2910580	NM_001242.5(CD27):c.137-5C>T	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2900577	NM_001242.5(CD27):c.137-8C>T	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2899304	NM_001242.5(CD27):c.651T>C (p.Tyr217=)	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2896109	NM_001242.5(CD27):c.539-20T>C	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2871488	NM_001242.5(CD27):c.426C>T (p.Pro142=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2869862	NM_001242.5(CD27):c.364C>A (p.Pro122Thr)	CD27, CD27-AS1 (P153T +2 more)	Single nucleotide variant (missense variant +3 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2864556	NM_001242.5(CD27):c.449-16_449-13del	CD27, CD27-AS1	Deletion (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2857732	NM_001242.5(CD27):c.505C>G (p.Leu169Val)	CD27, CD27-AS1 (L160V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2857608	NM_001242.5(CD27):c.222C>T (p.Asp74=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2825285	NM_001242.5(CD27):c.479del (p.Met160fs)	CD27, CD27-AS1 (M100fs +4 more)	Deletion (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GPathogenic
Select item 2823604	NM_001242.5(CD27):c.243T>C (p.Cys81=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2815156	NM_001242.5(CD27):c.133C>T (p.Pro45Ser)	CD27, CD27-AS1 (P45S)	Single nucleotide variant (missense variant +2 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2800252	NM_001242.5(CD27):c.269-7C>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2799077	NM_001242.5(CD27):c.474G>A (p.Gly158=)	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2797821	NM_001242.5(CD27):c.231C>A (p.Thr77=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2797363	NM_001242.5(CD27):c.25C>T (p.Leu9=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2793906	NM_001242.5(CD27):c.510T>C (p.Pro170=)	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2791148	NM_001242.5(CD27):c.405C>G (p.Ala135=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2770383	NM_001242.5(CD27):c.137-7C>T	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2746910	NM_001242.5(CD27):c.136+8G>A	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2733384	NM_001242.5(CD27):c.779C>G (p.Pro260Arg)	CD27, CD27-AS1 (P260R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2731120	NM_001242.5(CD27):c.355G>C (p.Glu119Gln)	CD27, CD27-AS1 (E110Q +2 more)	Single nucleotide variant (missense variant +3 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2723436	NM_001242.5(CD27):c.106G>A (p.Gly36Arg)	CD27, CD27-AS1 (G36R)	Single nucleotide variant (missense variant +2 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2720827	NM_001242.5(CD27):c.72C>G (p.Pro24=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2428128	NM_001242.5(CD27):c.381G>C (p.Ser127=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2419588	NM_001242.5(CD27):c.392G>A (p.Arg131Gln)	CD27, CD27-AS1 (R122Q +2 more)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2415605	NM_001242.5(CD27):c.408G>A (p.Leu136=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2414022	NM_001242.5(CD27):c.442G>A (p.Val148Ile)	CD27, CD27-AS1 (V139I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2213322	NM_001242.5(CD27):c.709C>T (p.Pro237Ser)	CD27, CD27-AS1 (P177S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2 +1 more	GUncertain significance
Select item 2202414	NM_001242.5(CD27):c.572G>A (p.Arg191His)	CD27, CD27-AS1 +1 more (R131H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2189917	NM_001242.5(CD27):c.399T>G (p.Ser133=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2165562	NM_001242.5(CD27):c.596T>C (p.Met199Thr)	CD27, CD27-AS1 +1 more (M139T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2163072	NM_001242.5(CD27):c.674C>T (p.Pro225Leu)	CD27, CD27-AS1 +1 more (P216L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2139164	NM_001242.5(CD27):c.659-6C>T	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2126450	NM_001242.5(CD27):c.256del (p.His86fs)	CD27, CD27-AS1 (H86fs)	Deletion (frameshift variant)	Lymphoproliferative syndrome 2	GPathogenic
Select item 2126051	NM_001242.5(CD27):c.696T>G (p.Cys232Trp)	CD27, CD27-AS1 +1 more (C172W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2125786	NM_001242.5(CD27):c.137-10C>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2118073	NM_001242.5(CD27):c.226C>T (p.His76Tyr)	CD27, CD27-AS1 (H76Y)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2114175	NM_001242.5(CD27):c.713G>C (p.Arg238Thr)	CD27, CD27-AS1 (R178T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2111507	NM_001242.5(CD27):c.329G>T (p.Trp110Leu)	CD27, CD27-AS1 (W141L +2 more)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2081793	NM_001242.5(CD27):c.15T>G (p.His5Gln)	CD27, CD27-AS1 (H5Q)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2080130	NM_001242.5(CD27):c.744G>A (p.Gln248=)	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2065169	NM_001242.5(CD27):c.22T>G (p.Trp8Gly)	CD27, CD27-AS1 (W8G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2059876	NM_001242.5(CD27):c.276C>T (p.Leu92=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2041027	NM_001242.5(CD27):c.448+12G>A	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GBenign
Select item 2038763	NM_001242.5(CD27):c.571C>T (p.Arg191Cys)	CD27, CD27-AS1 +1 more (R131C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2019359	NM_001242.5(CD27):c.137-20C>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2013727	NM_001242.5(CD27):c.166C>T (p.His56Tyr)	CD27, CD27-AS1 (H56Y)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2011854	NM_001242.5(CD27):c.137-17T>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 2005848	NM_001242.5(CD27):c.246G>C (p.Glu82Asp)	CD27, CD27-AS1 (E82D)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2003340	NM_001242.5(CD27):c.561C>G (p.Ser187=)	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1996185	NM_001242.5(CD27):c.136+19A>G	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1984069	NM_001242.5(CD27):c.280C>G (p.Arg94Gly)	CD27, CD27-AS1 (R125G +2 more)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1971244	NM_001242.5(CD27):c.658+15A>T	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1966847	NM_001242.5(CD27):c.200C>T (p.Pro67Leu)	CD27, CD27-AS1 (P67L)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2 +1 more	GUncertain significance
Select item 1961237	NM_001242.5(CD27):c.441T>A (p.Tyr147Ter)	CD27, CD27-AS1 (Y138* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GPathogenic
Select item 1951084	NM_001242.5(CD27):c.269-15C>A	CD27-AS1, CD27	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1942673	NM_001242.5(CD27):c.658+18G>A	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1924214	NM_001242.5(CD27):c.411C>T (p.Ser137=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +3 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1915920	NM_001242.5(CD27):c.129T>C (p.Cys43=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant +2 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1911435	NM_001242.5(CD27):c.708C>T (p.Cys236=)	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1713967	NM_001242.5(CD27):c.514C>G (p.Arg172Gly)	CD27, CD27-AS1 (R112G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1672696	NM_001242.5(CD27):c.136+19A>T	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1672192	NM_001242.5(CD27):c.63T>A (p.Thr21=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1656165	NM_001242.5(CD27):c.539-13C>T	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1653364	NM_001242.5(CD27):c.723G>A (p.Glu241=)	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1646759	NM_001242.5(CD27):c.114G>A (p.Leu38=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1636894	NM_001242.5(CD27):c.658+19G>T	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1630407	NM_001242.5(CD27):c.538+7T>C	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1622400	NM_001242.5(CD27):c.658+12A>G	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1590590	NM_001242.5(CD27):c.136+15T>C	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1543298	NM_001242.5(CD27):c.261T>C (p.Cys87=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1533349	NM_001242.5(CD27):c.538+14T>C	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GLikely benign
Select item 1508920	NM_001242.5(CD27):c.208T>C (p.Ser70Pro)	CD27, CD27-AS1 (S70P)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1505043	NM_001242.5(CD27):c.174G>T (p.Lys58Asn)	CD27, CD27-AS1 (K58N)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1491833	NM_001242.5(CD27):c.268+3G>A	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1485843	NM_001242.5(CD27):c.451A>G (p.Met151Val)	CD27, CD27-AS1 (M151V)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1485375	NM_001242.5(CD27):c.101C>T (p.Ala34Val)	CD27, CD27-AS1 (A34V)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1471071	NM_001242.5(CD27):c.73A>G (p.Lys25Glu)	CD27, CD27-AS1 (K25E)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1468018	NM_001242.5(CD27):c.386C>G (p.Thr129Ser)	CD27, CD27-AS1 (T129S)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1466434	NC_000012.11:g.(?_6559319)_(6559816_?)dup	CD27	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1445330	NM_001242.5(CD27):c.37G>T (p.Gly13Trp)	CD27, CD27-AS1 (G13W)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2 +1 more	GUncertain significance
Select item 1444408	NM_001242.5(CD27):c.155A>G (p.Asp52Gly)	CD27, CD27-AS1 (D52G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1442590	NM_001242.5(CD27):c.671G>A (p.Ser224Asn)	CD27, CD27-AS1 +1 more (S224N)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1439434	NM_001242.5(CD27):c.388G>A (p.Ala130Thr)	CD27, CD27-AS1 (A130T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1422728	NM_001242.5(CD27):c.448+13C>T	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1410636	NM_001242.5(CD27):c.490G>C (p.Ala164Pro)	CD27, CD27-AS1 (A164P)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2 +1 more	GUncertain significance
Select item 1389297	NM_001242.5(CD27):c.299C>T (p.Ala100Val)	CD27, CD27-AS1 (A100V)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1370281	NM_001242.5(CD27):c.497T>G (p.Phe166Cys)	CD27, CD27-AS1 (F166C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1365459	NM_001242.5(CD27):c.88A>G (p.Arg30Gly)	CD27, CD27-AS1 (R30G)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2	GUncertain significance

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