"Baylor Genetics"[submitter] AND "DSE"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805870	NM_003309.4(TSPYL1):c.725_726del (p.Val242fs)	TSPYL1, DSE (V242fs)	Microsatellite (frameshift variant +1 more)	Sudden infant death-dysgenesis of the testes syndrome	GPathogenic/Likely pathogenic
Select item 1030283	NM_013352.4(DSE):c.95T>A (p.Met32Lys)	DSE (M51K +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 391864	NM_013352.4(DSE):c.359T>C (p.Ile120Thr)	DSE (I120T +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1030282	NM_013352.4(DSE):c.364G>A (p.Ala122Thr)	DSE (A122T +1 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	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)	DSE-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1030280	NM_013352.4(DSE):c.2215G>T (p.Ala739Ser)	DSE (A394S +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2	GUncertain significance
Select item 1030281	NM_013352.4(DSE):c.2761A>G (p.Thr921Ala)	DSE (T576A +4 more)	Single nucleotide variant (missense variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GUncertain significance