ClinVar for MedGen (Select 1642148) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 597277	NM_001733.7(C1R):c.277G>T (p.Gly93Cys)	C1R (G93C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 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 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 267355	NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr)	C1R	Indel (inframe_indel)	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 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 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 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 267349	NM_001734.5(C1S):c.880T>C (p.Cys294Arg)	C1S (C294R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic
Select item 267348	NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)	C1S	Deletion (inframe_indel)	Ehlers-Danlos syndrome, periodontal type 1	GPathogenic

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Items: 30