C1R[gene] - 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 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 152931	GRCh38/hg38 12p13.31(chr12:7055795-7428473)x3	ACSM4, C1R +18 more	Copy number gain	See cases	GUncertain significance
Select item 1246105	NM_001733.7(C1R):c.*51del	C1R	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 2642662	NM_001733.7(C1R):c.2100G>A (p.Glu700=)	C1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701184	NM_001733.7(C1R):c.2091C>G (p.Ile697Met)	C1R (I697M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1804733	NM_001733.7(C1R):c.2073C>T (p.Leu691=)	C1R	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3034287	NM_001733.7(C1R):c.2013G>A (p.Thr671=)	C1R	Single nucleotide variant (synonymous variant)	C1R-related disorder	GLikely benign
Select item 2445687	NM_001733.7(C1R):c.2000G>A (p.Arg667His)	C1R (R667H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 510545	NM_001733.7(C1R):c.1977A>G (p.Ala659=)	C1R	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1675479	NM_001733.7(C1R):c.1926C>G (p.His642Gln)	C1R (H642Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308246	NM_001733.7(C1R):c.1631C>T (p.Pro544Leu)	C1R (P544L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973553	NM_001733.7(C1R):c.1427_1428dup (p.Trp477fs)	C1R (W491fs +1 more)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 1235256	NM_001733.7(C1R):c.1392C>A (p.Ile464=)	C1R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1289551	NM_001733.7(C1R):c.1349-176del	C1R	Deletion (intron variant)	not provided	GBenign
Select item 1675480	NM_001733.7(C1R):c.1337G>A (p.Arg446Gln)	C1R (R446Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 375582	NM_001733.7(C1R):c.1303T>C (p.Trp435Arg)	C1R (W435R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 375581	NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle)	C1R	Indel (inframe_indel)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 1805446	NM_001733.7(C1R):c.1202G>A (p.Arg401His)	C1R (R401H +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GLikely benign
Select item 375580	NM_001733.7(C1R):c.1113C>G (p.Cys371Trp)	C1R (C371W +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 375579	NM_001733.7(C1R):c.1092G>C (p.Trp364Cys)	C1R (W364C +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 2444516	NM_001733.7(C1R):c.1073G>A (p.Cys358Tyr)	C1R (C358Y +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GLikely pathogenic
Select item 267351	NM_001733.7(C1R):c.1073G>T (p.Cys358Phe)	C1R (C358F +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 1288064	NM_001733.7(C1R):c.1038+151T>C	C1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694657	NM_001733.7(C1R):c.1038+120A>G	C1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183801	NM_001733.7(C1R):c.1038+78T>C	C1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268134	NM_001733.7(C1R):c.1033A>C (p.Ile345Leu)	C1R (I345L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 375578	NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)	C1R (C338R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 1012818	NM_001733.7(C1R):c.969C>T (p.Asn323=)	C1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1012819	NM_001733.7(C1R):c.953T>G (p.Phe318Cys)	C1R (F318C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806822	NM_001733.7(C1R):c.949G>A (p.Glu317Lys)	C1R (E317K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 267355	NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr)	C1R	Indel (inframe_indel)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 267353	NM_001733.7(C1R):c.927C>G (p.Cys309Trp)	C1R (C309W +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 546697	NM_001733.7(C1R):c.926G>A (p.Cys309Tyr)	C1R (C309Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3057434	NM_001733.7(C1R):c.916+10C>T	C1R	Single nucleotide variant (intron variant)	C1R-related disorder	GLikely benign
Select item 375577	NM_001733.7(C1R):c.905A>G (p.Tyr302Cys)	C1R (Y302C +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 267352	NM_001733.7(C1R):c.902G>C (p.Arg301Pro)	C1R (R301P +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 267354	NM_001733.7(C1R):c.899T>C (p.Leu300Pro)	C1R (L300P +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	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 2634609	NM_001733.7(C1R):c.880G>A (p.Asp294Asn)	C1R (D294N +1 more)	Single nucleotide variant (missense variant)	C1R-related disorder	GUncertain significance
Select item 3036693	NM_001733.7(C1R):c.876G>C (p.Ser292=)	C1R	Single nucleotide variant (synonymous variant)	C1R-related disorder	GLikely benign
Select item 1701185	NM_001733.7(C1R):c.876G>A (p.Ser292=)	C1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806823	NM_001733.7(C1R):c.875C>T (p.Ser292Leu)	C1R (S292L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 267356	NM_001733.7(C1R):c.869A>G (p.Asp290Gly)	C1R (D290G +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 1708435	NM_001733.7(C1R):c.853C>A (p.Leu285Met)	C1R (L285M +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1278766	NM_001733.7(C1R):c.781G>A (p.Gly261Arg)	C1R (G261R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2576418	NM_001733.7(C1R):c.769-18del	C1R	Deletion (intron variant)	not specified	GLikely benign
Select item 1335096	NM_001733.7(C1R):c.704A>G (p.Lys235Arg)	C1R (K235R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1301535	NM_001733.7(C1R):c.674G>A (p.Arg225Gln)	C1R (R225Q +1 more)	Single nucleotide variant (missense variant)	Vascular dementia	GUncertain significance
Select item 3235250	NM_001733.7(C1R):c.664T>A (p.Tyr222Asn)	C1R (Y222N +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GUncertain significance
Select item 2663742	NM_001733.7(C1R):c.653T>C (p.Leu218Pro)	C1R (L218P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285037	NM_001733.7(C1R):c.647C>G (p.Pro216Arg)	C1R (P216R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1065580	NM_001733.7(C1R):c.646C>G (p.Pro216Ala)	C1R (P216A +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GUncertain significance
Select item 931271	NM_001733.7(C1R):c.646C>A (p.Pro216Thr)	C1R (P216T +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GUncertain significance
Select item 2573476	NM_001733.7(C1R):c.635G>A (p.Arg212Gln)	C1R (R212Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1243558	NM_001733.7(C1R):c.550G>A (p.Glu184Lys)	C1R (E184K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1805394	NM_001733.7(C1R):c.542A>G (p.Glu181Gly)	C1R (E181G +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GLikely benign
Select item 3039910	NM_001733.7(C1R):c.487C>T (p.His163Tyr)	C1R (H163Y +1 more)	Single nucleotide variant (missense variant)	C1R-related disorder	GLikely benign
Select item 806824	NM_001733.7(C1R):c.451A>G (p.Lys151Glu)	C1R (K151E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439617	NM_001733.7(C1R):c.450C>A (p.Ser150Arg)	C1R (S150R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GUncertain significance
Select item 992508	NM_001733.7(C1R):c.445C>T (p.Arg149Trp)	C1R (R149W +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GUncertain significance
Select item 636336	NM_001733.7(C1R):c.425-14T>C	C1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2499515	NM_001733.7(C1R):c.424+2T>C	C1R	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, periodontal type 1	GUncertain significance
Select item 2439616	NM_001733.7(C1R):c.419C>T (p.Ala140Val)	C1R (A140V +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GUncertain significance
Select item 2682290	NM_001733.7(C1R):c.395A>T (p.Lys132Met)	C1R (K132M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694658	NM_001733.7(C1R):c.366C>T (p.Asn122=)	C1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625897	NM_001733.7(C1R):c.336G>C (p.Met112Ile)	C1R (M112I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2634200	NM_001733.7(C1R):c.334A>G (p.Met112Val)	C1R (M112V +1 more)	Single nucleotide variant (missense variant)	C1R-related disorder	GUncertain significance
Select item 597277	NM_001733.7(C1R):c.277G>T (p.Gly93Cys)	C1R (G93C +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1 +1 more	GUncertain significance
Select item 972707	NM_001733.7(C1R):c.265T>C (p.Cys89Arg)	C1R (C103R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 3029382	NM_001733.7(C1R):c.232-9T>C	C1R	Single nucleotide variant (intron variant)	C1R-related disorder	GLikely benign
Select item 1294595	NM_001733.7(C1R):c.232-19C>A	C1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273291	NM_001733.7(C1R):c.232-106T>C	C1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283181	NM_001733.7(C1R):c.232-109T>C	C1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183244	NM_001733.7(C1R):c.232-196G>A	C1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2500100	NM_001733.7(C1R):c.231+6G>A	C1R	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, periodontal type 1	GLikely benign
Select item 2439615	NM_001733.7(C1R):c.203C>T (p.Ser68Phe)	C1R (S68F +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GUncertain significance
Select item 3257680	NM_001733.7(C1R):c.175G>A (p.Val59Ile)	C1R (V59I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 372130	NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp)	C1R (V50D +1 more)	Indel (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 2642663	NM_001733.7(C1R):c.88A>T (p.Thr30Ser)	C1R (T30S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175815	NM_001733.7(C1R):c.27G>A (p.Pro9=)	C1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013005	NM_001733.7(C1R):c.26C>T (p.Pro9Leu)	C1R (P23L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3054199	NM_001733.7(C1R):c.24G>T (p.Val8=)	C1R	Single nucleotide variant (synonymous variant)	C1R-related disorder	GLikely benign
Select item 3049978	NM_001733.7(C1R):c.3-10G>A	C1R	Single nucleotide variant (intron variant)	C1R-related disorder	GLikely benign
Select item 3042989	NM_001733.7(C1R):c.3-93G>A	C1R (W15*)	Single nucleotide variant (nonsense +1 more)	C1R-related disorder	GBenign
Select item 1694659	NM_001733.7(C1R):c.3-101T>C	C1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1675481	NM_001733.7(C1R):c.3-106G>T	C1R (E11*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 1182017	NM_001733.7(C1R):c.2+27T>A	C1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258560	NM_001733.7(C1R):c.2+21A>C	C1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3244256	NC_000012.11:g.(?_7053285)_(9027607_?)del	A2ML1, ACSM4 +35 more	Deletion	Peroxisome biogenesis disorder 2B +1 more	GPathogenic

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