115650[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 538825	NC_000022.11:g.(?_41301335)_(42070317_?)del	LOC130067562, LOC130067566 +78 more	Deletion	Immunodeficiency, common variable, 4	GUncertain significance
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 154653	GRCh38/hg38 22q13.2(chr22:41764466-41998153)x3	CCDC134, CENPM +35 more	Copy number gain	See cases	GUncertain significance
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 902821	NM_052945.4(TNFRSF13C):c.*253C>T	TNFRSF13C	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 341874	NM_052945.4(TNFRSF13C):c.*120T>C	TNFRSF13C	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 4 +1 more	GBenign
Select item 341875	NM_052945.4(TNFRSF13C):c.*113G>A	TNFRSF13C	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 902822	NM_052945.4(TNFRSF13C):c.*107G>C	TNFRSF13C	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 3042050	NM_052945.4(TNFRSF13C):c.*10G>C	TNFRSF13C	Single nucleotide variant (3 prime UTR variant)	TNFRSF13C-related disorder	GLikely benign
Select item 660119	NM_052945.4(TNFRSF13C):c.534_543delinsAATAGCAGG (p.Ala179fs)	TNFRSF13C (A179fs)	Indel (frameshift 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 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 1655369	NM_052945.4(TNFRSF13C):c.537C>G (p.Ala179=)	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 2128839	NM_052945.4(TNFRSF13C):c.522G>A (p.Val174=)	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 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 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 1142814	NM_052945.4(TNFRSF13C):c.507C>T (p.Gly169=)	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 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 659163	NM_052945.4(TNFRSF13C):c.485C>T (p.Pro162Leu)	TNFRSF13C (P162L)	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 575709	NM_052945.4(TNFRSF13C):c.478A>G (p.Ser160Gly)	TNFRSF13C (S160G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 440345	NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr)	TNFRSF13C (H159Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 753876	NM_052945.4(TNFRSF13C):c.447G>A (p.Gly149=)	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 717071	NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser)	TNFRSF13C (P146S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GConflicting classifications of pathogenicity
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 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 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 3327497	NM_052945.4(TNFRSF13C):c.415G>T (p.Asp139Tyr)	TNFRSF13C (D139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739123	NM_052945.4(TNFRSF13C):c.405G>A (p.Pro135=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
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 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 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 728274	NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GConflicting classifications of pathogenicity
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 1104190	NM_052945.4(TNFRSF13C):c.368-10C>G	TNFRSF13C	Single nucleotide variant (intron 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 902823	NM_052945.4(TNFRSF13C):c.368-13C>G	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GBenign/Likely benign
Select item 900261	NM_052945.4(TNFRSF13C):c.368-15C>A	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GConflicting classifications of pathogenicity
Select item 1275491	NM_052945.4(TNFRSF13C):c.368-33T>C	TNFRSF13C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260932	NM_052945.4(TNFRSF13C):c.368-199C>G	TNFRSF13C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263627	NM_052945.4(TNFRSF13C):c.367+89G>C	TNFRSF13C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1567329	NM_052945.4(TNFRSF13C):c.367+18G>A	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GBenign
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 1578681	NM_052945.4(TNFRSF13C):c.367+14G>C	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 538822	NM_052945.4(TNFRSF13C):c.367+10G>T	TNFRSF13C	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2808894	NM_052945.4(TNFRSF13C):c.367+1del	TNFRSF13C	Deletion (splice donor variant)	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 1640348	NM_052945.4(TNFRSF13C):c.360C>T (p.Asp120=)	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 795864	NM_052945.4(TNFRSF13C):c.351C>G (p.Pro117=)	TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 341876	NM_052945.4(TNFRSF13C):c.347C>T (p.Ala116Val)	TNFRSF13C (A116V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 900262	NM_052945.4(TNFRSF13C):c.344A>T (p.Glu115Val)	TNFRSF13C (E115V)	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 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 657280	NM_052945.4(TNFRSF13C):c.325C>T (p.Arg109Cys)	LOC130067574, TNFRSF13C (R109C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 848146	NM_052945.4(TNFRSF13C):c.311_322del (p.Arg104_Arg107del)	LOC130067574, TNFRSF13C	Deletion (inframe_deletion)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 341877	NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)	LOC130067574, TNFRSF13C (R106Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4 +3 more	GConflicting classifications of pathogenicity
Select item 900263	NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GConflicting classifications of pathogenicity
Select item 3180241	NM_052945.4(TNFRSF13C):c.299G>A (p.Ser100Asn)	LOC130067574, TNFRSF13C (S100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 341878	NM_052945.4(TNFRSF13C):c.288G>A (p.Val96=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 4459	NM_052945.4(TNFRSF13C):c.265_288del (p.Leu89_Val96del)	LOC130067574, TNFRSF13C	Deletion (inframe_indel +1 more)	Immunodeficiency, common variable, 4	GPathogenic
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 1036144	NM_052945.4(TNFRSF13C):c.275_286del (p.88ALVL[1])	LOC130067574, TNFRSF13C	Deletion (inframe_deletion)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 538821	NM_052945.4(TNFRSF13C):c.282C>T (p.Val94=)	TNFRSF13C, LOC130067574	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GBenign/Likely benign
Select item 843432	NM_052945.4(TNFRSF13C):c.278T>C (p.Leu93Pro)	LOC130067574, TNFRSF13C (L93P)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
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 1009610	NM_052945.4(TNFRSF13C):c.264_275dup (p.88ALVL[3])	LOC130067574, TNFRSF13C	Duplication (inframe_insertion)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 951210	NM_052945.4(TNFRSF13C):c.257_268del (p.Gly86_Leu89del)	LOC130067574, TNFRSF13C	Deletion (inframe_deletion)	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 471474	NM_052945.4(TNFRSF13C):c.264A>G (p.Ala88=)	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 341879	NM_052945.4(TNFRSF13C):c.255G>C (p.Leu85=)	TNFRSF13C, LOC130067574	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GConflicting classifications of pathogenicity
Select item 341880	NM_052945.4(TNFRSF13C):c.252G>A (p.Leu84=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Common Variable Immune Deficiency, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 785729	NM_052945.4(TNFRSF13C):c.246C>T (p.Pro82=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GConflicting classifications of pathogenicity
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 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 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 3067679	NM_052945.4(TNFRSF13C):c.239G>A (p.Gly80Asp)	LOC130067574, TNFRSF13C (G80D)	Single nucleotide variant (missense variant)	not provided	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 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 2155567	NM_052945.4(TNFRSF13C):c.231G>A (p.Leu77=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 487214	NM_052945.4(TNFRSF13C):c.229C>T (p.Leu77=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 2140646	NM_052945.4(TNFRSF13C):c.225C>G (p.Pro75=)	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 1053269	NM_052945.4(TNFRSF13C):c.224C>A (p.Pro75His)	LOC130067574, TNFRSF13C (P75H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance

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