"PreventionGenetics, part of Exact Sciences"[submitter] AND "DSE"[gene - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 718447	NM_003309.4(TSPYL1):c.1098C>A (p.Phe366Leu)	DSE, TSPYL1 (F366L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3050285	NM_003309.4(TSPYL1):c.1083T>C (p.His361=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	TSPYL1-related disorder	GLikely benign
Select item 3053310	NM_003309.4(TSPYL1):c.396A>G (p.Leu132=)	TSPYL1, DSE +1 more	Single nucleotide variant (synonymous variant +1 more)	TSPYL1-related disorder	GLikely benign
Select item 732961	NM_003309.4(TSPYL1):c.256G>A (p.Val86Ile)	DSE, LOC129997035 +1 more (V86I)	Single nucleotide variant (missense variant +1 more)	TSPYL1-related disorder +1 more	GLikely benign
Select item 791449	NM_003309.4(TSPYL1):c.99C>T (p.Tyr33=)	DSE, TSPYL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3038803	NM_013352.4(DSE):c.-46C>T	DSE	Single nucleotide variant (5 prime UTR variant +2 more)	DSE-related disorder	GLikely benign
Select item 668223	NM_013352.4(DSE):c.216G>A (p.Thr72=)	DSE	Single nucleotide variant (synonymous variant +2 more)	DSE-related disorder +2 more	GBenign/Likely benign
Select item 3051976	NM_013352.4(DSE):c.231G>A (p.Thr77=)	DSE	Single nucleotide variant (synonymous variant +2 more)	DSE-related disorder	GLikely benign
Select item 762929	NM_013352.4(DSE):c.693A>G (p.Leu231=)	DSE	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 2722759	NM_013352.4(DSE):c.714C>T (p.Thr238=)	DSE	Single nucleotide variant (synonymous variant +3 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 2772460	NM_013352.4(DSE):c.975A>G (p.Gln325=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
Select item 1210976	NM_013352.4(DSE):c.1383T>A (p.Ala461=)	DSE	Single nucleotide variant (synonymous variant +2 more)	DSE-related disorder +2 more	GLikely benign
Select item 1531862	NM_013352.4(DSE):c.1491C>T (p.Pro497=)	DSE	Single nucleotide variant (synonymous variant +2 more)	DSE-related disorder +1 more	GLikely benign
Select item 1908281	NM_013352.4(DSE):c.1635T>C (p.Tyr545=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +1 more	GLikely benign
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 disorder +4 more	GConflicting classifications of pathogenicity
Select item 3057583	NM_013352.4(DSE):c.1968C>A (p.Pro656=)	DSE	Single nucleotide variant (synonymous variant +2 more)	DSE-related disorder	GLikely benign
Select item 776148	NM_013352.4(DSE):c.2120C>G (p.Ser707Cys)	DSE (S726C +4 more)	Single nucleotide variant (missense variant +2 more)	DSE-related disorder +2 more	GLikely benign
Select item 508454	NM_013352.4(DSE):c.2601C>T (p.Tyr867=)	DSE	Single nucleotide variant (synonymous variant +2 more)	Ehlers-Danlos syndrome, musculocontractural type 2 +3 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)	DSE-related disorder +3 more	GBenign
Select item 517742	NM_013352.4(DSE):c.2727T>C (p.Ile909=)	DSE	Single nucleotide variant (synonymous variant +2 more)	DSE-related disorder +2 more	GLikely benign

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Items: 20