ClinVar for Gene (Select 196513) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3024578	GRCh37/hg19 12p13.33(chr12:922808-2129821)x1	ADIPOR2, CACNA2D4 +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2685428	GRCh37/hg19 12p13.33(chr12:173787-2431561)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2619530	NM_152640.5(DCP1B):c.1379A>G (p.Gln460Arg)	DCP1B (Q460R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591783	NM_152640.5(DCP1B):c.1606G>A (p.Val536Ile)	DCP1B (V536I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570815	NM_152640.5(DCP1B):c.294T>G (p.Pro98=)	CACNA1C, DCP1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2565939	NM_152640.5(DCP1B):c.910C>T (p.Leu304Phe)	DCP1B (L304F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540547	NM_152640.5(DCP1B):c.1155C>G (p.Ser385Arg)	DCP1B (S385R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529686	NM_152640.5(DCP1B):c.1793A>C (p.Asn598Thr)	DCP1B (N598T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524853	NM_152640.5(DCP1B):c.904G>A (p.Ala302Thr)	DCP1B (A302T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513770	NM_152640.5(DCP1B):c.1454G>C (p.Gly485Ala)	DCP1B (G485A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509890	NM_152640.5(DCP1B):c.1016A>C (p.Asn339Thr)	DCP1B (N339T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2427496	NC_000012.11:g.(?_862732)_(2800365_?)dup	ADIPOR2, LRTM2 +8 more	Duplication	not provided	GUncertain significance
Select item 2423370	NC_000012.11:g.(?_2016586)_(2558301_?)dup	CACNA1C, CACNA2D4 +1 more	Duplication	Long QT syndrome	GUncertain significance
Select item 2423369	NC_000012.11:g.(?_1949885)_(2764424_?)dup	CACNA1C, CACNA2D4 +1 more	Duplication	Long QT syndrome	GUncertain significance
Select item 2411528	NM_152640.5(DCP1B):c.1366C>T (p.Leu456Phe)	DCP1B (L456F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410167	NM_152640.5(DCP1B):c.570C>G (p.Ile190Met)	DCP1B (I190M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395064	NM_152640.5(DCP1B):c.1030C>T (p.Arg344Cys)	DCP1B (R344C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390251	NM_152640.5(DCP1B):c.1177C>T (p.Pro393Ser)	DCP1B (P393S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388475	NM_152640.5(DCP1B):c.1080G>C (p.Gln360His)	DCP1B (Q360H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352546	NM_152640.5(DCP1B):c.1016A>T (p.Asn339Ile)	DCP1B (N339I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348807	NM_152640.5(DCP1B):c.632G>A (p.Arg211His)	DCP1B (R211H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2339090	NM_152640.5(DCP1B):c.532T>G (p.Cys178Gly)	DCP1B (C178G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332758	NM_152640.5(DCP1B):c.894G>A (p.Met298Ile)	DCP1B (M298I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331904	NM_152640.5(DCP1B):c.1457C>T (p.Thr486Ile)	DCP1B (T486I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299298	NM_152640.5(DCP1B):c.1206G>C (p.Gln402His)	DCP1B (Q402H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287891	NM_152640.5(DCP1B):c.740C>T (p.Pro247Leu)	DCP1B (P247L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283727	NM_152640.5(DCP1B):c.80A>G (p.Tyr27Cys)	CACNA1C, DCP1B (Y27C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281712	NM_152640.5(DCP1B):c.1160C>T (p.Ala387Val)	DCP1B (A387V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273883	NM_152640.5(DCP1B):c.1111C>T (p.Pro371Ser)	DCP1B (P371S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230347	NM_152640.5(DCP1B):c.424A>G (p.Thr142Ala)	DCP1B (T142A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2216483	NM_152640.5(DCP1B):c.1834G>A (p.Ala612Thr)	DCP1B (A612T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215819	NM_152640.5(DCP1B):c.986C>T (p.Thr329Ile)	DCP1B (T329I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1809216	GRCh37/hg19 12p13.33(chr12:817514-2205439)x1	ADIPOR2, CACNA1C +8 more	Copy number loss	not provided	GPathogenic
Select item 1808497	GRCh37/hg19 12p13.33(chr12:2056363-2801698)x1	CACNA1C, DCP1B	Copy number loss	not provided	GUncertain significance
Select item 1808214	GRCh37/hg19 12p13.33(chr12:2019716-2674054)x3	CACNA1C, CACNA2D4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527676	GRCh37/hg19 12p13.33(chr12:2019715-2674054)x3	CACNA1C, CACNA2D4 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1434649	NC_000012.11:g.(?_1949885)_(2229616_?)dup	CACNA2D4, DCP1B +1 more	Duplication	not provided	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	C1R, NINJ2 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 more	Copy number loss	not provided	GPathogenic
Select item 979957	GRCh37/hg19 12p13.33(chr12:2019715-2674054)x3	CACNA1C, CACNA2D4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 833161	NC_000012.12:g.(?_1909906)_(2556977_?)dup	CACNA1C, CACNA2D4 +1 more	Duplication	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 781059	NM_152640.5(DCP1B):c.1151G>A (p.Arg384His)	DCP1B (R384H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776685	NM_152640.5(DCP1B):c.1701G>A (p.Pro567=)	DCP1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773020	NM_152640.5(DCP1B):c.902G>C (p.Ser301Thr)	DCP1B (S301T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 712109	NM_152640.5(DCP1B):c.1629C>T (p.Ser543=)	DCP1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 688469	GRCh37/hg19 12p13.33(chr12:1436977-2156672)x3	ADIPOR2, CACNA2D4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 685532	GRCh37/hg19 12p13.33(chr12:2078015-2316617)x3	CACNA1C, DCP1B	Copy number gain	not provided	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563982	GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	not provided	GPathogenic
Select item 563979	GRCh37/hg19 12p13.33(chr12:173786-2793493)x1	ADIPOR2, B4GALNT3 +16 more	Copy number loss	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	A2M, A2ML1 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442135	GRCh37/hg19 12p13.33(chr12:2019715-2674054)x3	CACNA1C, CACNA2D4 +1 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 441628	GRCh37/hg19 12p13.33(chr12:173786-2108237)x3	ADIPOR2, B4GALNT3 +15 more	Copy number gain	See cases	GUncertain significance
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395105	GRCh37/hg19 12p13.33(chr12:2055265-2655926)x3	CACNA1C, DCP1B	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253849	GRCh37/hg19 12p13.33(chr12:1555573-2655985)x3	ADIPOR2, CACNA1C +6 more	Copy number gain	See cases	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253551	GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	LOC130007148, LOC130007149 +223 more	Copy number gain	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	LOC126861417, LOC126861418 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	LOC102723544, LOC105369595 +114 more	Copy number loss	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic

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