"Institute of Human Genetics, Medical University Innsbruck"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 372130	NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp)	C1R (V50D +1 more)	Indel (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic