"PreventionGenetics, part of Exact Sciences"[submitter] AND "CTR9"[gen - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1111954	NM_014633.5(CTR9):c.46-3dup	CTR9	Duplication (intron variant)	CTR9-related disorder +1 more	GLikely benign
Select item 2172616	NM_014633.5(CTR9):c.144G>T (p.Ala48=)	CTR9	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1547274	NM_014633.5(CTR9):c.360C>T (p.Ala120=)	CTR9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2641601	NM_014633.5(CTR9):c.741+6T>G	CTR9	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1170439	NM_014633.5(CTR9):c.1455G>A (p.Ala485=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	CTR9-related disorder +1 more	GBenign/Likely benign
Select item 1164641	NM_014633.5(CTR9):c.1687-3C>T	CTR9	Single nucleotide variant (intron variant)	CTR9-related disorder +1 more	GBenign/Likely benign
Select item 749267	NM_014633.5(CTR9):c.2085G>A (p.Lys695=)	CTR9	Single nucleotide variant (synonymous variant)	CTR9-related disorder +1 more	GBenign/Likely benign
Select item 3040741	NM_014633.5(CTR9):c.2109+7_2109+8del	CTR9	Deletion (intron variant)	CTR9-related disorder	GLikely benign
Select item 1345046	NM_014633.5(CTR9):c.2226+8G>T	CTR9	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1164307	NM_014633.5(CTR9):c.2372+8T>A	CTR9	Single nucleotide variant (intron variant)	CTR9-related disorder +1 more	GBenign/Likely benign
Select item 1164678	NM_014633.5(CTR9):c.2445-8T>C	CTR9	Single nucleotide variant (intron variant)	CTR9-related disorder +1 more	GBenign/Likely benign
Select item 1160422	NM_014633.5(CTR9):c.2591G>A (p.Arg864His)	CTR9 (R840H +1 more)	Single nucleotide variant (missense variant)	CTR9-related disorder +1 more	GLikely benign
Select item 1154323	NM_014633.5(CTR9):c.2646G>T (p.Val882=)	CTR9	Single nucleotide variant (synonymous variant)	CTR9-related disorder +1 more	GLikely benign
Select item 2706723	NM_014633.5(CTR9):c.3095+4G>A	CTR9	Single nucleotide variant (intron variant)	CTR9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1554558	NM_014633.5(CTR9):c.3138C>T (p.Asp1046=)	CTR9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1557455	NM_014633.5(CTR9):c.3146G>A (p.Arg1049Gln)	CTR9 (R1025Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1165526	NM_014633.5(CTR9):c.3154T>C (p.Cys1052Arg)	CTR9 (C1028R +1 more)	Single nucleotide variant (missense variant)	CTR9-related disorder +1 more	GBenign
Select item 1581513	NM_014633.5(CTR9):c.3157G>T (p.Ala1053Ser)	CTR9 (A1029S +1 more)	Single nucleotide variant (missense variant)	CTR9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1165527	NM_014633.5(CTR9):c.3195G>A (p.Lys1065=)	CTR9	Single nucleotide variant (synonymous variant)	CTR9-related disorder +1 more	GBenign
Select item 1167342	NM_014633.5(CTR9):c.3402G>A (p.Ser1134=)	CTR9	Single nucleotide variant (synonymous variant)	CTR9-related disorder +1 more	GBenign/Likely benign
Select item 1165366	NM_014633.5(CTR9):c.3449A>G (p.Glu1150Gly)	CTR9 (E1126G +1 more)	Single nucleotide variant (missense variant)	CTR9-related disorder +1 more	GBenign/Likely benign

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Items: 21