"PreventionGenetics, part of Exact Sciences"[submitter] AND "ADAMTS17" - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315250	NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 710080	NM_139057.4(ADAMTS17):c.3123C>A (p.Arg1041=)	ADAMTS17	Single nucleotide variant (synonymous variant)	ADAMTS17-related disorder +1 more	GBenign/Likely benign
Select item 710081	NM_139057.4(ADAMTS17):c.2955G>A (p.Ser985=)	ADAMTS17	Single nucleotide variant (synonymous variant)	ADAMTS17-related disorder +1 more	GLikely benign
Select item 499055	NM_139057.4(ADAMTS17):c.2726G>A (p.Arg909Gln)	ADAMTS17 (R909Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 315261	NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=)	ADAMTS17	Single nucleotide variant (synonymous variant)	ADAMTS17-related disorder +2 more	GBenign
Select item 1911746	NM_139057.4(ADAMTS17):c.2670C>T (p.Tyr890=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 774947	NM_139057.4(ADAMTS17):c.2607G>A (p.Pro869=)	ADAMTS17	Single nucleotide variant (synonymous variant)	ADAMTS17-related disorder +1 more	GBenign/Likely benign
Select item 722145	NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu)	ADAMTS17 (S717L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1528321	NM_139057.4(ADAMTS17):c.1924_1929dup (p.Lys642_Glu643dup)	ADAMTS17	Duplication (inframe_insertion)	ADAMTS17-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 315280	NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=)	ADAMTS17	Single nucleotide variant (synonymous variant)	ADAMTS17-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 315284	NM_139057.4(ADAMTS17):c.1767T>C (p.His589=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1579018	NM_139057.4(ADAMTS17):c.1599G>C (p.Val533=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1635263	NM_139057.4(ADAMTS17):c.1584C>T (p.Arg528=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1406805	NM_139057.4(ADAMTS17):c.1074T>C (p.Val358=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1986033	NM_139057.4(ADAMTS17):c.690C>T (p.Ser230=)	ADAMTS17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 886688	NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg)	ADAMTS17 (K183R)	Single nucleotide variant (missense variant)	Weill-Marchesani 4 syndrome, recessive +2 more	GConflicting classifications of pathogenicity
Select item 3032886	NM_139057.4(ADAMTS17):c.354_367del (p.Gly119fs)	ADAMTS17 (G119fs)	Deletion (frameshift variant)	ADAMTS17-related disorder	GLikely pathogenic