ClinVar for Gene (Select 23532) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218133	NM_206956.3(PRAME):c.998G>A (p.Arg333Gln)	IGL, PRAME (R317Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218132	NM_206956.3(PRAME):c.833C>T (p.Pro278Leu)	IGL, PRAME (P262L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218131	NM_206956.3(PRAME):c.82G>A (p.Glu28Lys)	IGL, PRAME (E12K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218130	NM_206956.3(PRAME):c.770G>A (p.Gly257Asp)	IGL, PRAME (G257D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218129	NM_206956.3(PRAME):c.697G>T (p.Asp233Tyr)	IGL, PRAME (D217Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218128	NM_206956.3(PRAME):c.654G>T (p.Met218Ile)	IGL, PRAME (M202I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218127	NM_206956.3(PRAME):c.362T>C (p.Val121Ala)	IGL, PRAME (V105A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218126	NM_206956.3(PRAME):c.1465C>T (p.His489Tyr)	IGL, PRAME (H489Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218125	NM_206956.3(PRAME):c.1426C>T (p.Arg476Trp)	IGL, PRAME (R460W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218124	NM_206956.3(PRAME):c.1304A>G (p.Asn435Ser)	IGL, PRAME (N435S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218123	NM_206956.3(PRAME):c.1020G>A (p.Met340Ile)	IGL, PRAME (M340I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218122	NM_206956.3(PRAME):c.1009G>C (p.Gly337Arg)	IGL, PRAME (G321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148894	GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GUncertain significance
Select item 2685674	GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1	IGLC1, IGLL1 +23 more	Copy number loss	not provided	GPathogenic
Select item 2685673	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1	CCDC116, GGT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2684931	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3	BCR, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 2663782	NC_000022.10:g.(?_21797384)_(23630313_?)del	BCR, CCDC116 +23 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2622658	NM_206956.3(PRAME):c.92G>T (p.Gly31Val)	IGL, PRAME (G31V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591552	NM_206956.3(PRAME):c.1510C>T (p.Pro504Ser)	IGL, PRAME (P504S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535753	NM_206956.3(PRAME):c.1361C>G (p.Thr454Ser)	IGL, PRAME (T454S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526556	NM_206956.3(PRAME):c.967C>G (p.Pro323Ala)	IGL, PRAME (P307A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512782	NM_206956.3(PRAME):c.236C>T (p.Thr79Ile)	IGL, PRAME (T63I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506549	GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)	BCR, C22orf15 +16 more	Copy number loss	Schwannomatosis 1	GPathogenic
Select item 2457337	NM_206956.3(PRAME):c.374G>A (p.Arg125Gln)	IGL, PRAME (R109Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410473	NM_206956.3(PRAME):c.1004C>T (p.Ser335Leu)	IGL, PRAME (S335L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408485	NM_206956.3(PRAME):c.692A>G (p.Gln231Arg)	IGL, PRAME (Q231R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401473	NM_206956.3(PRAME):c.1016T>C (p.Val339Ala)	IGL, PRAME (V323A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394902	NM_206956.3(PRAME):c.1408T>G (p.Leu470Val)	IGL, PRAME (L470V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391635	NM_206956.3(PRAME):c.1078A>C (p.Met360Leu)	IGL, PRAME (M360L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382435	NM_206956.3(PRAME):c.514T>G (p.Phe172Val)	IGL, PRAME (F156V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361050	NM_206956.3(PRAME):c.749C>T (p.Ala250Val)	IGL, PRAME (A234V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321373	NM_206956.3(PRAME):c.1513T>C (p.Cys505Arg)	IGL, PRAME (C489R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318608	NM_206956.3(PRAME):c.1172C>T (p.Thr391Met)	IGL, PRAME (T375M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315032	NM_206956.3(PRAME):c.124A>G (p.Ile42Val)	IGL, PRAME (I26V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295908	NM_206956.3(PRAME):c.794T>G (p.Leu265Arg)	IGL, PRAME (L265R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285894	NM_206956.3(PRAME):c.562T>C (p.Cys188Arg)	IGL, PRAME (C188R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246548	NM_206956.3(PRAME):c.337C>T (p.Arg113Cys)	IGL, PRAME (R97C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238876	NM_206956.3(PRAME):c.403G>A (p.Val135Ile)	IGL, PRAME (V135I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233100	NM_206956.3(PRAME):c.796C>T (p.Leu266Phe)	IGL, PRAME (L266F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225287	NM_206956.3(PRAME):c.671A>G (p.Lys224Arg)	IGL, PRAME (K224R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220089	NM_206956.3(PRAME):c.1377G>T (p.Arg459Ser)	IGL, PRAME (R443S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215112	NM_206956.3(PRAME):c.958G>T (p.Val320Leu)	IGL, PRAME (V304L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205518	NM_206956.3(PRAME):c.1078A>G (p.Met360Val)	PRAME, IGL (M360V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808649	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GPathogenic
Select item 1807776	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 1706504	GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1	CCDC116, GGT2 +18 more	Copy number loss	See cases	GPathogenic
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1340764	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	BCR, C22orf15 +45 more	Copy number gain	not provided	GPathogenic
Select item 1330164	GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3	MIR130B, CCDC116 +15 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GUncertain significance
Select item 1296948	NM_206956.3(PRAME):c.19T>C (p.Trp7Arg)	IGL, PRAME (W7R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	RTN4R, SCARF2 +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 980810	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 979599	GRCh37/hg19 22q11.22-11.23(chr22:22898364-23653963)x3	IGLC1, BCR +6 more	Copy number gain	not provided	GUncertain significance
Select item 973580	NC_000022.10:g.21514655_22986816del	CCDC116, GGT2 +18 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 929328	GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3	CCDC116, MAPK1 +12 more	Copy number gain	See cases	GPathogenic
Select item 830215	NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del	CCDC116, GGTLC2 +16 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 816560	GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1	MAPK1, PPM1F +13 more	Copy number loss	not provided	GPathogenic
Select item 816559	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3	BCR, CCDC116 +25 more	Copy number gain	not provided	GPathogenic
Select item 816203	GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	ADORA2A, AIFM3 +66 more	Copy number gain	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 812919	Single allele	AIFM3, ARVCF +76 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 782671	NM_206956.3(PRAME):c.611A>G (p.Asn204Ser)	IGL, PRAME (N204S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778915	NM_206956.3(PRAME):c.766C>T (p.Leu256=)	IGL, PRAME	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777670	NM_206956.3(PRAME):c.1263T>C (p.Ser421=)	IGL, PRAME	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688599	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 688301	GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1	BCR, CCDC116 +20 more	Copy number loss	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685586	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 625626	GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)	BCR, CCDC116 +23 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 625624	GRCh37/hg19 22q11.22(chr22:22255329-23321856)	GGTLC2, IGLC1 +8 more	Copy number gain	not provided	GPathogenic
Select item 625623	GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674)	CCDC116, GGTLC2 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 599193	NC_000022.10:g.21808950_22963000del1154051	CCDC116, MAPK1 +15 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565045	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1	ADORA2A, BCR +47 more	Copy number loss	not provided	GPathogenic
Select item 565043	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1	BCR, C22orf15 +45 more	Copy number loss	not provided	GPathogenic
Select item 565040	GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1	AIFM3, BCR +39 more	Copy number loss	not provided	GPathogenic
Select item 565032	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 565024	GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 565017	GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1	CCDC116, HIC2 +16 more	Copy number loss	not provided	GPathogenic
Select item 565016	GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 443421	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1	BCR, CCDC116 +23 more	Copy number loss	See cases	GPathogenic
Select item 443325	GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3	BCR, CCDC116 +23 more	Copy number gain	See cases	GUncertain significance
Select item 442574	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1	CCDC116, HIC2 +16 more	Copy number loss	See cases	GPathogenic
Select item 442278	GRCh37/hg19 22q11.21-11.22(chr22:21800796-22998050)x3	CCDC116, GGTLC2 +17 more	Copy number gain	See cases	GUncertain significance
Select item 441811	GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3	CCDC116, ADORA2A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441808	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1	CCDC116, HIC2 +16 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253531	GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3	CCDC116, GGTLC2 +14 more	Copy number gain	See cases	GPathogenic
Select item 253528	GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1	AIFM3, BCR +40 more	Copy number loss	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253443	GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	GGTLC3, GNB1L +84 more	Copy number gain	See cases	GPathogenic
Select item 253433	GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3	BCR, CCDC116 +25 more	Copy number gain	See cases	GPathogenic
Select item 253360	GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1	CCDC116, MAPK1 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 221770	GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1	DGCR6, GSC2 +105 more	Copy number loss	Premature ovarian failure	GBenign
Select item 155200	GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1	CCDC116, IGL +92 more	Copy number loss	See cases	GPathogenic

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