83461[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic
Select item 1650633	NM_002075.4(GNB3):c.700-127_700-126delinsTT	CDCA3, GNB3	Indel (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1047849	NM_002075.4(GNB3):c.700-126G>T	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 675808	NM_002075.4(GNB3):c.700-126G>A	GNB3, CDCA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1674370	NM_002075.4(GNB3):c.700-17G>A	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1671544	NM_002075.4(GNB3):c.700-11C>T	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1167224	NM_002075.4(GNB3):c.700-10G>A	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1112823	NM_002075.4(GNB3):c.700-5C>T	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1349966	NM_002075.4(GNB3):c.709_719del (p.Asn237fs)	GNB3, CDCA3 (N236fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2208486	NM_002075.4(GNB3):c.710A>G (p.Asn237Ser)	CDCA3, GNB3 (N237S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 842580	NM_002075.4(GNB3):c.728C>T (p.Thr243Met)	CDCA3, GNB3 (T243M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 774817	NM_002075.4(GNB3):c.729G>A (p.Thr243=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1481151	NM_002075.4(GNB3):c.731G>T (p.Gly244Val)	CDCA3, GNB3 (G244V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 971346	NM_002075.4(GNB3):c.734C>T (p.Ser245Leu)	CDCA3, GNB3 (S245L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 963685	NM_002075.4(GNB3):c.735G>A (p.Ser245=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1167942	NM_002075.4(GNB3):c.741C>T (p.Asp247=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1467519	NM_002075.4(GNB3):c.742G>T (p.Ala248Ser)	CDCA3, GNB3 (A248S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1373630	NM_002075.4(GNB3):c.742G>A (p.Ala248Thr)	CDCA3, GNB3 (A247T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1466514	NM_002075.4(GNB3):c.748T>G (p.Cys250Gly)	GNB3, CDCA3 (C250G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1938649	NM_002075.4(GNB3):c.751C>T (p.Arg251Cys)	CDCA3, GNB3 (R250C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 840114	NM_002075.4(GNB3):c.752G>A (p.Arg251His)	CDCA3, GNB3 (R251H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1123725	NM_002075.4(GNB3):c.756G>A (p.Leu252=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1169656	NM_002075.4(GNB3):c.762C>T (p.Asp254=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1468606	NM_002075.4(GNB3):c.766C>T (p.Arg256Trp)	CDCA3, GNB3 (R255W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1130850	NM_002075.4(GNB3):c.766C>A (p.Arg256=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1367497	NM_002075.4(GNB3):c.767G>A (p.Arg256Gln)	CDCA3, GNB3 (R256Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 934229	NM_002075.4(GNB3):c.775C>T (p.Gln259Ter)	GNB3, CDCA3 (Q259* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1469175	NM_002075.4(GNB3):c.779A>G (p.Glu260Gly)	GNB3, CDCA3 (E260G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2011433	NM_002075.4(GNB3):c.782T>G (p.Leu261Arg)	CDCA3, GNB3 (L261R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1487999	NM_002075.4(GNB3):c.787T>C (p.Cys263Arg)	GNB3, CDCA3 (C262R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 939367	NM_002075.4(GNB3):c.788G>C (p.Cys263Ser)	CDCA3, GNB3 (C262S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1609562	NM_002075.4(GNB3):c.792C>T (p.Phe264=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1078719	NM_002075.4(GNB3):c.798C>T (p.His266=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 970744	NM_002075.4(GNB3):c.799G>A (p.Glu267Lys)	CDCA3, GNB3 (E266K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1443913	NM_002075.4(GNB3):c.803G>A (p.Ser268Asn)	GNB3, CDCA3 (S268N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1084942	NM_002075.4(GNB3):c.813C>T (p.Cys271=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1170122	NM_002075.4(GNB3):c.814G>A (p.Gly272Ser)	CDCA3, GNB3 (G271S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2796559	NM_002075.4(GNB3):c.821C>T (p.Thr274Met)	CDCA3, GNB3 (T273M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1118062	NM_002075.4(GNB3):c.822G>A (p.Thr274=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2817755	NM_002075.4(GNB3):c.825C>G (p.Ser275=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 226004	NM_002075.4(GNB3):c.825C>T (p.Ser275=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1932365	NM_002075.4(GNB3):c.826G>A (p.Val276Met)	CDCA3, GNB3 (V276M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121565	NM_002075.4(GNB3):c.833T>C (p.Phe278Ser)	CDCA3, GNB3 (F277S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2536577	NM_002075.4(GNB3):c.836C>T (p.Ser279Phe)	CDCA3, GNB3 (S279F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1897904	NM_002075.4(GNB3):c.838C>T (p.Leu280Phe)	CDCA3, GNB3 (L279F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 939284	NM_002075.4(GNB3):c.847C>T (p.Arg283Cys)	CDCA3, GNB3 (R282C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388086	NM_002075.4(GNB3):c.848G>A (p.Arg283His)	CDCA3, GNB3 (R282H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1167865	NM_002075.4(GNB3):c.852A>G (p.Leu284=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1392464	NM_002075.4(GNB3):c.855_856dup (p.Phe286fs)	GNB3, CDCA3 (F286fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1114225	NM_002075.4(GNB3):c.858C>T (p.Phe286=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1040405	NM_002075.4(GNB3):c.859G>T (p.Ala287Ser)	CDCA3, GNB3 (A286S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2128245	NM_002075.4(GNB3):c.860C>G (p.Ala287Gly)	CDCA3, GNB3 (A286G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1667774	NM_002075.4(GNB3):c.867C>T (p.Tyr289=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2187494	NM_002075.4(GNB3):c.868G>A (p.Asp290Asn)	CDCA3, GNB3 (D289N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 934432	NM_002075.4(GNB3):c.871G>A (p.Asp291Asn)	CDCA3, GNB3 (D291N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2801230	NM_002075.4(GNB3):c.879C>T (p.Asn293=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818082	NM_002075.4(GNB3):c.885T>C (p.Asn295=)	CDCA3, GNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2772776	NM_002075.4(GNB3):c.892G>A (p.Asp298Asn)	CDCA3, GNB3 (D297N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1924632	NM_002075.4(GNB3):c.894C>G (p.Asp298Glu)	CDCA3, GNB3 (D298E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1133253	NM_002075.4(GNB3):c.894C>T (p.Asp298=)	GNB3, CDCA3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1393548	NM_002075.4(GNB3):c.898A>G (p.Met300Val)	CDCA3, GNB3 (M299V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2079888	NM_002075.4(GNB3):c.899T>A (p.Met300Lys)	CDCA3, GNB3 (M299K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484443	NM_002075.4(GNB3):c.910C>T (p.Arg304Cys)	CDCA3, GNB3 (R304C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 859499	NM_002075.4(GNB3):c.911G>A (p.Arg304His)	CDCA3, GNB3 (R303H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502469	NM_002075.4(GNB3):c.916+1G>A	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1226951	NM_002075.4(GNB3):c.917-95A>C	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1180094	NM_002075.4(GNB3):c.917-94_917-93insCC	CDCA3, GNB3	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1243340	NM_002075.4(GNB3):c.917-90CA[5]	CDCA3, GNB3	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1231323	NM_002075.4(GNB3):c.917-91C>A	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1645952	NM_002075.4(GNB3):c.917-20C>T	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1089922	NM_002075.4(GNB3):c.917-9C>T	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1950405	NM_002075.4(GNB3):c.917-7T>C	CDCA3, GNB3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 860366	NM_002075.4(GNB3):c.931C>A (p.His311Asn)	CDCA3, GNB3 (H310N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1104469	NM_002075.4(GNB3):c.945G>A (p.Val315=)	CDCA3, GNB3 (H210Y)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1061888	NM_002075.4(GNB3):c.953T>C (p.Leu318Pro)	CDCA3, GNB3 (L317P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1422436	NM_002075.4(GNB3):c.955G>C (p.Gly319Arg)	CDCA3, GNB3 (G318R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800861	NM_002075.4(GNB3):c.967G>A (p.Asp323Asn)	CDCA3, GNB3 (D322N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1158787	NM_002075.4(GNB3):c.969C>T (p.Asp323=)	GNB3, CDCA3 (V202I)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948302	NM_002075.4(GNB3):c.970G>A (p.Gly324Arg)	CDCA3, GNB3 (G323R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1412873	NM_002075.4(GNB3):c.975G>A (p.Met325Ile)	CDCA3, GNB3 (M324I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 846927	NM_002075.4(GNB3):c.979G>A (p.Val327Met)	CDCA3, GNB3 (V326M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1138484	NM_002075.4(GNB3):c.981G>A (p.Val327=)	CDCA3, GNB3 (H198Y)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2853478	NM_002075.4(GNB3):c.989G>C (p.Gly330Ala)	CDCA3, GNB3 (G329A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992611	NM_002075.4(GNB3):c.992C>A (p.Ser331Tyr)	CDCA3, GNB3 (S330Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1121867	NM_002075.4(GNB3):c.1002C>T (p.Ser334=)	CDCA3, GNB3 (A191T)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2850275	NM_002075.4(GNB3):c.1005C>A (p.Phe335Leu)	CDCA3, GNB3 (E190* +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1919362	NM_002075.4(GNB3):c.1005C>T (p.Phe335=)	CDCA3, GNB3 (E190K)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1348903	NM_002075.4(GNB3):c.1006C>G (p.Leu336Val)	CDCA3, GNB3 (E189D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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