LOC130067574[gene] - 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 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=)	LOC130067574, TNFRSF13C	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
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 538823	NM_052945.4(TNFRSF13C):c.213G>A (p.Ala71=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GConflicting classifications of pathogenicity
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 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 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 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 835705	NM_052945.4(TNFRSF13C):c.199G>A (p.Ala67Thr)	LOC130067574, TNFRSF13C (A67T)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
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 471473	NM_052945.4(TNFRSF13C):c.191_192delinsTT (p.Gly64Val)	TNFRSF13C, LOC130067574 (G64V)	Indel (missense variant)	Immunodeficiency, common variable, 4	GBenign
Select item 341881	NM_052945.4(TNFRSF13C):c.192C>T (p.Gly64=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4 +1 more	GBenign/Likely benign
Select item 440343	NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)	LOC130067574, TNFRSF13C (G64V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 857768	NM_052945.4(TNFRSF13C):c.190G>A (p.Gly64Ser)	LOC130067574, TNFRSF13C (G64S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 487213	NM_052945.4(TNFRSF13C):c.181G>A (p.Glu61Lys)	LOC130067574, TNFRSF13C (E61K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
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 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 647889	NM_052945.4(TNFRSF13C):c.173A>T (p.Gln58Leu)	LOC130067574, TNFRSF13C (Q58L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
Select item 341882	NM_052945.4(TNFRSF13C):c.165G>A (p.Thr55=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous 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 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 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 1441522	NM_052945.4(TNFRSF13C):c.142G>A (p.Ala48Thr)	TNFRSF13C, LOC130067574 (A48T)	Single nucleotide variant (missense variant)	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 471472	NM_052945.4(TNFRSF13C):c.137-7del	LOC130067574, TNFRSF13C	Deletion (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
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 2917113	NM_052945.4(TNFRSF13C):c.137-41_137-19dup	LOC130067574, TNFRSF13C	Duplication (intron variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 1661127	NM_052945.4(TNFRSF13C):c.136+17G>A	LOC130067574, TNFRSF13C	Single nucleotide variant (intron 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 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 538824	NM_052945.4(TNFRSF13C):c.132A>G (p.Lys44=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
Select item 2769939	NM_052945.4(TNFRSF13C):c.129G>T (p.Pro43=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
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 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 2530543	NM_052945.4(TNFRSF13C):c.125G>A (p.Arg42Gln)	LOC130067574, TNFRSF13C (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 487212	NM_052945.4(TNFRSF13C):c.122C>T (p.Pro41Leu)	LOC130067574, TNFRSF13C (P41L)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
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 786787	NM_052945.4(TNFRSF13C):c.102C>T (p.Ala34=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4 +1 more	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 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 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 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 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 761050	NM_052945.4(TNFRSF13C):c.82C>T (p.Leu28=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
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 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 341883	NM_052945.4(TNFRSF13C):c.62C>G (p.Pro21Arg)	LOC130067574, TNFRSF13C (P21R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 440344	NM_052945.4(TNFRSF13C):c.60C>T (p.Val20=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4 +1 more	GConflicting classifications of pathogenicity
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 1534822	NM_052945.4(TNFRSF13C):c.51G>T (p.Thr17=)	LOC130067574, TNFRSF13C	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 4	GLikely benign
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 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 950419	NM_052945.4(TNFRSF13C):c.37G>T (p.Ala13Ser)	TNFRSF13C, LOC130067574 (A13S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 4	GUncertain significance
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

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