ClinVar for MedGen (Select 462089) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021107	NM_052945.4(TNFRSF13C):c.370C>T (p.Pro124Ser)	TNFRSF13C (P124S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 3015715	NM_052945.4(TNFRSF13C):c.538G>C (p.Gly180Arg)	TNFRSF13C (G180R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 3013528	NM_052945.4(TNFRSF13C):c.244C>T (p.Pro82Ser)	LOC130067574, TNFRSF13C (P82S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 3004742	NM_052945.4(TNFRSF13C):c.29G>A (p.Gly10Asp)	LOC130067574, TNFRSF13C (G10D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 3001081	NM_052945.4(TNFRSF13C):c.149G>A (p.Ser50Asn)	LOC130067574, TNFRSF13C (S50N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 3000794	NM_052945.4(TNFRSF13C):c.508T>C (p.Ser170Pro)	TNFRSF13C (S170P)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2974559	NM_052945.4(TNFRSF13C):c.52C>T (p.Pro18Ser)	LOC130067574, TNFRSF13C (P18S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2917113	NM_052945.4(TNFRSF13C):c.137-41_137-19dup	LOC130067574, TNFRSF13C	Duplication (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2914363	NM_052945.4(TNFRSF13C):c.375G>T (p.Glu125Asp)	TNFRSF13C (E125D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2907377	NM_052945.4(TNFRSF13C):c.202G>A (p.Gly68Ser)	LOC130067574, TNFRSF13C (G68S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2879646	NM_052945.4(TNFRSF13C):c.156G>A (p.Ala52=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2878600	NM_052945.4(TNFRSF13C):c.289G>A (p.Gly97Ser)	LOC130067574, TNFRSF13C (G97S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2868995	NM_052945.4(TNFRSF13C):c.46C>G (p.Pro16Ala)	LOC130067574, TNFRSF13C (P16A)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2861222	NM_052945.4(TNFRSF13C):c.204C>T (p.Gly68=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2859205	NM_052945.4(TNFRSF13C):c.36C>T (p.Asp12=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2856258	NM_052945.4(TNFRSF13C):c.68A>G (p.Glu23Gly)	LOC130067574, TNFRSF13C (E23G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2808894	NM_052945.4(TNFRSF13C):c.367+1del	TNFRSF13C	Deletion (splice donor variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2803404	NM_052945.4(TNFRSF13C):c.237T>C (p.Phe79=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2801328	NM_052945.4(TNFRSF13C):c.123G>A (p.Pro41=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2801213	NM_052945.4(TNFRSF13C):c.87C>T (p.Val29=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2796343	NM_052945.4(TNFRSF13C):c.5G>A (p.Arg2Lys)	LOC130067574, TNFRSF13C (R2K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2788296	NM_052945.4(TNFRSF13C):c.25C>T (p.Arg9Trp)	LOC130067574, TNFRSF13C (R9W)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2769939	NM_052945.4(TNFRSF13C):c.129G>T (p.Pro43=)	TNFRSF13C, LOC130067574	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2760011	NM_052945.4(TNFRSF13C):c.257G>T (p.Gly86Val)	LOC130067574, TNFRSF13C (G86V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2756443	NM_052945.4(TNFRSF13C):c.137-15C>T	LOC130067574, TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2756340	NM_052945.4(TNFRSF13C):c.85G>A (p.Val29Ile)	LOC130067574, TNFRSF13C (V29I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2749101	NM_052945.4(TNFRSF13C):c.196_213del (p.Gly66_Ala71del)	LOC130067574, TNFRSF13C	Deletion (inframe_deletion)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2730007	NM_052945.4(TNFRSF13C):c.138C>G (p.Ala46=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2720713	NM_052945.4(TNFRSF13C):c.134C>G (p.Pro45Arg)	LOC130067574, TNFRSF13C (P45R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2712607	NM_052945.4(TNFRSF13C):c.228G>T (p.Gly76=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2708865	NM_052945.4(TNFRSF13C):c.224C>T (p.Pro75Leu)	LOC130067574, TNFRSF13C (P75L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4 +1 more	GUncertain significance
Select item 2434179	NM_052945.4(TNFRSF13C):c.154G>A (p.Ala52Thr)	LOC130067574, TNFRSF13C (A52T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GLikely pathogenic
Select item 2200441	NM_052945.4(TNFRSF13C):c.39G>A (p.Ala13=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2199741	NM_052945.4(TNFRSF13C):c.295G>C (p.Val99Leu)	LOC130067574, TNFRSF13C (V99L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2155567	NM_052945.4(TNFRSF13C):c.231G>A (p.Leu77=)	TNFRSF13C, LOC130067574	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2150936	NM_052945.4(TNFRSF13C):c.22C>T (p.Leu8=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2146176	NM_052945.4(TNFRSF13C):c.504G>A (p.Leu168=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2140646	NM_052945.4(TNFRSF13C):c.225C>G (p.Pro75=)	TNFRSF13C, LOC130067574	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2132352	NM_052945.4(TNFRSF13C):c.101C>T (p.Ala34Val)	LOC130067574, TNFRSF13C (A34V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2128839	NM_052945.4(TNFRSF13C):c.522G>A (p.Val174=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2097329	NM_052945.4(TNFRSF13C):c.15C>A (p.Pro5=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2077374	NM_052945.4(TNFRSF13C):c.357A>G (p.Gly119=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2072872	NM_052945.4(TNFRSF13C):c.445G>A (p.Gly149Arg)	TNFRSF13C (G149R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2021981	NM_052945.4(TNFRSF13C):c.11G>C (p.Gly4Ala)	LOC130067574, TNFRSF13C (G4A)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 2010827	NM_052945.4(TNFRSF13C):c.81G>T (p.Leu27=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2000549	NM_052945.4(TNFRSF13C):c.512C>G (p.Thr171Ser)	TNFRSF13C (T171S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4 +1 more	GUncertain significance
Select item 1958662	NM_052945.4(TNFRSF13C):c.288G>C (p.Val96=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1931287	NM_052945.4(TNFRSF13C):c.511A>T (p.Thr171Ser)	TNFRSF13C (T171S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1721629	NM_052945.4(TNFRSF13C):c.199G>T (p.Ala67Ser)	LOC130067574, TNFRSF13C (A67S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1672449	NM_052945.4(TNFRSF13C):c.174G>A (p.Gln58=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1661127	NM_052945.4(TNFRSF13C):c.136+17G>A	TNFRSF13C, LOC130067574	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1660951	NM_052945.4(TNFRSF13C):c.195G>A (p.Ala65=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1655369	NM_052945.4(TNFRSF13C):c.537C>G (p.Ala179=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1652365	NM_052945.4(TNFRSF13C):c.368-13C>T	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GBenign
Select item 1640348	NM_052945.4(TNFRSF13C):c.360C>T (p.Asp120=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1640206	NM_052945.4(TNFRSF13C):c.120G>A (p.Thr40=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1602464	NM_052945.4(TNFRSF13C):c.537C>T (p.Ala179=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1578681	NM_052945.4(TNFRSF13C):c.367+14G>C	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1571567	NM_052945.4(TNFRSF13C):c.27G>C (p.Arg9=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1567329	NM_052945.4(TNFRSF13C):c.367+18G>A	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GBenign
Select item 1543468	NM_052945.4(TNFRSF13C):c.177G>T (p.Pro59=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1534822	NM_052945.4(TNFRSF13C):c.51G>T (p.Thr17=)	TNFRSF13C, LOC130067574	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1520872	NM_052945.4(TNFRSF13C):c.424G>A (p.Ala142Thr)	TNFRSF13C (A142T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1519158	NM_052945.4(TNFRSF13C):c.2T>A (p.Met1Lys)	LOC130067574, TNFRSF13C (M1K)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1504967	NM_052945.4(TNFRSF13C):c.128C>T (p.Pro43Leu)	LOC130067574, TNFRSF13C (P43L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1501054	NM_052945.4(TNFRSF13C):c.101C>A (p.Ala34Asp)	LOC130067574, TNFRSF13C (A34D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1500223	NM_052945.4(TNFRSF13C):c.392T>C (p.Ile131Thr)	TNFRSF13C (I131T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1493315	NM_052945.4(TNFRSF13C):c.433T>A (p.Trp145Arg)	TNFRSF13C (W145R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1490092	NM_052945.4(TNFRSF13C):c.452A>T (p.Asp151Val)	TNFRSF13C (D151V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1482096	NM_052945.4(TNFRSF13C):c.209C>T (p.Ala70Val)	LOC130067574, TNFRSF13C (A70V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1477254	NM_052945.4(TNFRSF13C):c.245C>T (p.Pro82Leu)	LOC130067574, TNFRSF13C (P82L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1476123	NM_052945.4(TNFRSF13C):c.326GCG[3] (p.Gly110dup)	LOC130067574, TNFRSF13C	Microsatellite (inframe_insertion)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1470403	NM_052945.4(TNFRSF13C):c.497C>T (p.Thr166Ile)	TNFRSF13C (T166I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1470219	NM_052945.4(TNFRSF13C):c.238G>A (p.Gly80Ser)	LOC130067574, TNFRSF13C (G80S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1461158	NM_052945.4(TNFRSF13C):c.431C>T (p.Ala144Val)	TNFRSF13C (A144V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	CYB5R3, RANGAP1 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1443870	NM_052945.4(TNFRSF13C):c.403C>T (p.Pro135Ser)	TNFRSF13C (P135S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1441522	NM_052945.4(TNFRSF13C):c.142G>A (p.Ala48Thr)	LOC130067574, TNFRSF13C (A48T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1439329	NM_052945.4(TNFRSF13C):c.479G>T (p.Ser160Ile)	TNFRSF13C (S160I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1419262	NM_052945.4(TNFRSF13C):c.35A>G (p.Asp12Gly)	LOC130067574, TNFRSF13C (D12G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1405370	NM_052945.4(TNFRSF13C):c.275_286dup (p.88ALVL[3])	LOC130067574, TNFRSF13C	Duplication (inframe_insertion)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1398536	NM_052945.4(TNFRSF13C):c.367G>A (p.Ala123Thr)	TNFRSF13C (A123T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1392259	NM_052945.4(TNFRSF13C):c.14C>A (p.Pro5His)	LOC130067574, TNFRSF13C (P5H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1381789	NM_052945.4(TNFRSF13C):c.134C>T (p.Pro45Leu)	LOC130067574, TNFRSF13C (P45L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1357103	NM_052945.4(TNFRSF13C):c.331G>T (p.Ala111Ser)	LOC130067574, TNFRSF13C (A111S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1151560	NM_052945.4(TNFRSF13C):c.126G>A (p.Arg42=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1142814	NM_052945.4(TNFRSF13C):c.507C>T (p.Gly169=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1117456	NM_052945.4(TNFRSF13C):c.240C>T (p.Gly80=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1116152	NM_052945.4(TNFRSF13C):c.33G>A (p.Arg11=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1110286	NM_052945.4(TNFRSF13C):c.276G>C (p.Ala92=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1108264	NM_052945.4(TNFRSF13C):c.367+16A>G	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1104190	NM_052945.4(TNFRSF13C):c.368-10C>G	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1063719	NM_052945.4(TNFRSF13C):c.538G>A (p.Gly180Ser)	TNFRSF13C (G180S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1061017	NM_052945.4(TNFRSF13C):c.226G>T (p.Gly76Trp)	LOC130067574, TNFRSF13C (G76W)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1060107	NM_052945.4(TNFRSF13C):c.11G>A (p.Gly4Glu)	TNFRSF13C, LOC130067574 (G4E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1059823	NM_052945.4(TNFRSF13C):c.264_265insATGGTCCTGGCG (p.Ala88_Leu89insMetValLeuAla)	LOC130067574, TNFRSF13C	Insertion (inframe_insertion)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1053269	NM_052945.4(TNFRSF13C):c.224C>A (p.Pro75His)	TNFRSF13C, LOC130067574 (P75H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1036144	NM_052945.4(TNFRSF13C):c.275_286del (p.88ALVL[1])	LOC130067574, TNFRSF13C	Deletion (inframe_deletion)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1018789	NM_052945.4(TNFRSF13C):c.89G>A (p.Arg30His)	LOC130067574, TNFRSF13C (R30H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1009610	NM_052945.4(TNFRSF13C):c.264_275dup (p.88ALVL[3])	LOC130067574, TNFRSF13C	Duplication (inframe_insertion)	Immunodeficiency, common variable, 4	GUncertain significance

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