ClinVar for Gene (Select 51279) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135828	NM_016546.4(C1RL):c.92G>T (p.Gly31Val)	C1RL, C1RL-AS1 +1 more (G31V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135826	NM_016546.4(C1RL):c.835C>A (p.Leu279Ile)	C1RL (L237I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135825	NM_016546.4(C1RL):c.827G>A (p.Arg276Lys)	C1RL (R234K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135824	NM_016546.4(C1RL):c.812C>A (p.Ala271Asp)	C1RL (A229D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135823	NM_016546.4(C1RL):c.809G>C (p.Gly270Ala)	C1RL (G270A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135822	NM_016546.4(C1RL):c.772T>C (p.Trp258Arg)	C1RL (W216R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135821	NM_016546.4(C1RL):c.692T>A (p.Val231Asp)	C1RL (S247T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135820	NM_016546.4(C1RL):c.548C>T (p.Ala183Val)	C1RL (A183V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135819	NM_016546.4(C1RL):c.499T>C (p.Tyr167His)	C1RL (Y167H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135818	NM_016546.4(C1RL):c.310G>A (p.Val104Ile)	C1RL (V104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135817	NM_016546.4(C1RL):c.1431C>G (p.Asp477Glu)	C1RL (D435E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135816	NM_016546.4(C1RL):c.1273G>A (p.Glu425Lys)	C1RL (E383K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3135815	NM_016546.4(C1RL):c.1102C>T (p.Arg368Cys)	C1RL (R326C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2601492	NM_016546.4(C1RL):c.694T>C (p.Cys232Arg)	C1RL (C232R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596435	NM_016546.4(C1RL):c.1210G>A (p.Ala404Thr)	C1RL (A362T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589992	NM_016546.4(C1RL):c.569A>G (p.Lys190Arg)	C1RL (K190R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588217	NM_016546.4(C1RL):c.358G>T (p.Gly120Cys)	C1RL (G120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560445	NM_016546.4(C1RL):c.1307G>A (p.Ser436Asn)	C1RL (S394N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539488	NM_016546.4(C1RL):c.979G>A (p.Asp327Asn)	C1RL (D285N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525511	NM_016546.4(C1RL):c.1265T>C (p.Val422Ala)	C1RL (V380A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2507608	NM_016546.4(C1RL):c.434C>T (p.Ser145Leu)	C1RL (S145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468430	NM_016546.4(C1RL):c.1012G>A (p.Gly338Arg)	C1RL (G338R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468282	NM_016546.4(C1RL):c.1070C>T (p.Pro357Leu)	C1RL (P315L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462411	NM_016546.4(C1RL):c.283G>C (p.Ala95Pro)	C1RL, LOC126861433 (A95P)	Single nucleotide variant (missense variant)	not specified	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 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2366536	NM_016546.4(C1RL):c.1123G>A (p.Val375Ile)	C1RL (V333I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361813	NM_016546.4(C1RL):c.931A>T (p.Met311Leu)	C1RL (M269L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2350846	NM_016546.4(C1RL):c.793C>T (p.His265Tyr)	C1RL (H265Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2344138	NM_016546.4(C1RL):c.1063G>A (p.Val355Ile)	C1RL (V355I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2342280	NM_016546.4(C1RL):c.150G>C (p.Gln50His)	C1RL, C1RL-AS1 +1 more (Q50H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2338680	NM_016546.4(C1RL):c.740G>A (p.Gly247Asp)	C1RL (G247D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334234	NM_016546.4(C1RL):c.1454G>A (p.Gly485Asp)	C1RL (G443D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320770	NM_016546.4(C1RL):c.79C>G (p.Leu27Val)	C1RL, C1RL-AS1 +1 more (L27V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300786	NM_016546.4(C1RL):c.951C>A (p.His317Gln)	C1RL (H275Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273789	NM_016546.4(C1RL):c.217G>C (p.Ala73Pro)	C1RL, C1RL-AS1 +1 more (A73P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2265905	NM_016546.4(C1RL):c.85C>A (p.Leu29Ile)	C1RL, C1RL-AS1 +1 more (L29I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2221066	NM_016546.4(C1RL):c.1084G>A (p.Asp362Asn)	C1RL (D320N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 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 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	USP5, VAMP1 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	GDF3, GNB3 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C1RL, C1S +40 more	Duplication	Peroxisome biogenesis disorder 2B	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 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	CD4, CDCA3 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	A2ML1, DPPA3 +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	CD4, CDCA3 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	APOBEC1, ATN1 +34 more	Duplication	Temtamy syndrome	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 688764	GRCh37/hg19 12p13.31(chr12:7162134-7605102)x3	ACSM4, C1R +6 more	Copy number gain	not provided	GUncertain significance
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 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 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 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 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 372129	NM_001733.7(C1R):c.890G>A (p.Gly297Asp)	C1R, C1RL (G297D +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic/Likely pathogenic
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 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	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 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 152931	GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3	ACSM4, C1R +18 more	Copy number gain	See cases	GUncertain significance
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 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	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
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 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

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Links from Gene

Items: 88