"PreventionGenetics, part of Exact Sciences"[submitter] AND "TRAPPC9"[ - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587938	NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)	TRAPPC9 (V1141M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 362061	NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Intellectual Disability, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 437021	NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln)	TRAPPC9 (R1119Q +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13 +3 more	GConflicting classifications of pathogenicity
Select item 362062	NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130632	NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 437048	NM_001160372.4(TRAPPC9):c.3241G>A (p.Val1081Ile)	TRAPPC9 (V1081I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 437049	NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys)	TRAPPC9 (R1053C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1615514	NM_001160372.4(TRAPPC9):c.3114C>T (p.Gly1038=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition +2 more	GLikely benign
Select item 589179	NM_001160372.4(TRAPPC9):c.3078A>G (p.Pro1026=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2972076	NM_001160372.4(TRAPPC9):c.3051G>A (p.Gln1017=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 212428	NM_001160372.4(TRAPPC9):c.3012C>T (p.Asn1004=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1311605	NM_001160372.4(TRAPPC9):c.2901G>C (p.Glu967Asp)	TRAPPC9 (E919D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 589426	NM_001160372.4(TRAPPC9):c.2871G>A (p.Lys957=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign
Select item 362068	NM_001160372.4(TRAPPC9):c.2811-4G>A	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13 +3 more	GConflicting classifications of pathogenicity
Select item 130630	NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=)	TRAPPC9	Single nucleotide variant (no sequence alteration +2 more)	not provided +3 more	GBenign/Likely benign
Select item 362069	NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=)	TRAPPC9	Single nucleotide variant (synonymous variant +2 more)	Intellectual Disability, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 362071	NM_001160372.4(TRAPPC9):c.2742C>T (p.Thr914=)	TRAPPC9	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 3029757	NM_001160372.4(TRAPPC9):c.2727T>C (p.Asp909=)	TRAPPC9	Single nucleotide variant (synonymous variant +2 more)	TRAPPC9-related condition	GLikely benign
Select item 1193472	NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)	TRAPPC9 (T843P +3 more)	Single nucleotide variant (missense variant +1 more)	TRAPPC9-related condition +4 more	GConflicting classifications of pathogenicity
Select item 3052184	NM_001160372.4(TRAPPC9):c.2664A>G (p.Val888=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition	GLikely benign
Select item 130626	NM_001160372.4(TRAPPC9):c.2431+7G>A	TRAPPC9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2629685	NM_001160372.4(TRAPPC9):c.2305T>C (p.Trp769Arg)	TRAPPC9 (W721R +3 more)	Single nucleotide variant (missense variant +1 more)	TRAPPC9-related condition	GUncertain significance
Select item 130625	NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 1791622	NM_001160372.4(TRAPPC9):c.2166A>G (p.Val722=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition +1 more	GLikely benign
Select item 130624	NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 130615	NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Intellectual Disability, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 1967155	NM_001160372.4(TRAPPC9):c.1736A>C (p.His579Pro)	TRAPPC9 (H531P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 212419	NM_001160372.4(TRAPPC9):c.1693G>A (p.Val565Met)	TRAPPC9 (V565M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 130622	NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 437033	NM_001160372.4(TRAPPC9):c.1678T>C (p.Leu560=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition +2 more	GLikely benign
Select item 1949334	NM_001160372.4(TRAPPC9):c.1521A>G (p.Leu507=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition +1 more	GLikely benign
Select item 130621	NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)	TRAPPC9	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2904098	NM_001160372.4(TRAPPC9):c.1353C>T (p.Gly451=)	TRAPPC9	Single nucleotide variant (synonymous variant +2 more)	TRAPPC9-related condition +1 more	GBenign/Likely benign
Select item 1299132	NM_001160372.4(TRAPPC9):c.1281C>T (p.Ala427=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 589483	NM_001160372.4(TRAPPC9):c.1233C>T (p.Ala411=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 130620	NM_001160372.4(TRAPPC9):c.1194C>T (p.Ile398=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3029178	NM_001160372.4(TRAPPC9):c.1045del (p.Ile349fs)	TRAPPC9 (I340fs +2 more)	Deletion (frameshift variant +1 more)	TRAPPC9-related condition	GLikely pathogenic
Select item 437037	NM_001160372.4(TRAPPC9):c.687G>A (p.Ser229=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition +2 more	GLikely benign
Select item 437039	NM_001160372.4(TRAPPC9):c.543G>A (p.Pro181=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 130639	NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 130635	NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 432996	NM_001160372.4(TRAPPC9):c.274_280del (p.Trp92fs)	TRAPPC9 (W92fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 212436	NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)	TRAPPC9 (S186L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 3034219	NM_001160372.4(TRAPPC9):c.252A>C (p.Thr84=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition	GLikely benign
Select item 130634	NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 3033030	NM_001160372.4(TRAPPC9):c.108G>A (p.Lys36=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition	GLikely benign
Select item 588116	NM_031466.8(TRAPPC9):c.-129_-109dup	TRAPPC9	Duplication (5 prime UTR variant)	Intellectual disability, autosomal recessive 13 +3 more	GBenign
Select item 3044839	NM_031466.8(TRAPPC9):c.-157A>C	TRAPPC9	Single nucleotide variant (5 prime UTR variant)	TRAPPC9-related condition	GLikely benign
Select item 759168	NM_031466.8(TRAPPC9):c.-256G>A	TRAPPC9	Single nucleotide variant (5 prime UTR variant)	TRAPPC9-related condition +2 more	GLikely benign

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Items: 49