ClinVar for Gene (Select 51279) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262428	NM_016546.4(C1RL):c.953C>T (p.Pro318Leu)	C1RL (P276L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262427	NM_016546.4(C1RL):c.967G>A (p.Val323Ile)	C1RL (V323I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3262426	NM_016546.4(C1RL):c.608C>T (p.Ala203Val)	C1RL (A203V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3262425	NM_016546.4(C1RL):c.997T>C (p.Ser333Pro)	C1RL (S333P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262424	NM_016546.4(C1RL):c.1103G>A (p.Arg368His)	C1RL (R368H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic
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	DENND5B, DERA +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	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	PEX5, PHB2 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1373618	NC_000012.11:g.(?_6978008)_(9010204_?)dup	C12orf57, ATN1 +40 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +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	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1004385	NC_000012.11:g.(?_6945914)_(9027627_?)dup	C1RL, C1S +44 more	Duplication	Klippel-Feil syndrome 3, autosomal dominant	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 830465	NC_000012.11:g.(?_6945914)_(8248706_?)dup	ACSM4, APOBEC1 +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	GAPDH, GAU1 +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	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +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	CLEC12A, CLEC12A-AS1 +1258 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 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	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 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 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 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 94