"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 387336	NM_013352.4(DSE):c.53G>T (p.Cys18Phe)	DSE (C18F +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +2 more	GBenign
Select item 1702235	NM_013352.4(DSE):c.189G>A (p.Ser63=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GConflicting classifications of pathogenicity
Select item 517062	NM_013352.4(DSE):c.209G>A (p.Arg70His)	DSE (R70H +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +2 more	GBenign
Select item 511744	NM_013352.4(DSE):c.450G>A (p.Pro150=)	DSE	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 384822	NM_013352.4(DSE):c.711G>C (p.Leu237=)	DSE	Single nucleotide variant (synonymous variant +3 more)	not specified +3 more	GBenign/Likely benign
Select item 384816	NM_013352.4(DSE):c.844A>G (p.Ile282Val)	DSE (I282V +2 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +2 more	GBenign
Select item 1702233	NM_013352.4(DSE):c.1222G>A (p.Ala408Thr)	DSE (A221T +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +2 more	GUncertain significance
Select item 1491434	NM_013352.4(DSE):c.1609A>T (p.Ile537Phe)	DSE (I192F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 444698	NM_013352.4(DSE):c.1841A>G (p.Tyr614Cys)	DSE (Y614C +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 739017	NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)	DSE (R321Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1702236	NM_013352.4(DSE):c.2184G>A (p.Lys728=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GConflicting classifications of pathogenicity
Select item 514847	NM_013352.4(DSE):c.2428C>G (p.Arg810Gly)	DSE (R810G +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely benign
Select item 1702237	NM_013352.4(DSE):c.2518G>A (p.Ala840Thr)	DSE (A495T +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 508454	NM_013352.4(DSE):c.2601C>T (p.Tyr867=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 474683	NM_013352.4(DSE):c.2619_2621del (p.Gly874del)	DSE (G874del +4 more)	Deletion (inframe_deletion +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +2 more	GBenign
Select item 1200367	NM_013352.4(DSE):c.2635C>T (p.Arg879Trp)	DSE (R534W +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance