"PreventionGenetics, part of Exact Sciences"[submitter] AND "TRAPPC12" - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1614588	NM_016030.6(TRAPPC12):c.64G>A (p.Ala22Thr)	TRAPPC12 (A22T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3053837	NM_016030.6(TRAPPC12):c.69T>A (p.Pro23=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 3052743	NM_016030.6(TRAPPC12):c.108C>T (p.Ile36=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 1530005	NM_016030.6(TRAPPC12):c.145G>A (p.Glu49Lys)	TRAPPC12 (E49K)	Single nucleotide variant (missense variant)	TRAPPC12-related disorder +1 more	GBenign/Likely benign
Select item 2057990	NM_016030.6(TRAPPC12):c.339G>A (p.Glu113=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 430822	NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs)	TRAPPC12 (E121fs)	Duplication (frameshift variant)	Progressive childhood encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 1805705	NM_016030.6(TRAPPC12):c.361G>A (p.Glu121Lys)	TRAPPC12 (E121K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3033106	NM_016030.6(TRAPPC12):c.426C>T (p.Ser142=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 1273981	NM_016030.6(TRAPPC12):c.432C>T (p.Ala144=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2352719	NM_016030.6(TRAPPC12):c.611C>T (p.Pro204Leu)	TRAPPC12 (P204L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1282559	NM_016030.6(TRAPPC12):c.681T>C (p.Phe227=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2636361	NM_016030.6(TRAPPC12):c.850C>T (p.Gln284Ter)	TRAPPC12 (Q284*)	Single nucleotide variant (nonsense)	TRAPPC12-related disorder	GLikely pathogenic
Select item 2650634	NM_016030.6(TRAPPC12):c.879C>G (p.Pro293=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1252377	NM_016030.6(TRAPPC12):c.901A>G (p.Ser301Gly)	TRAPPC12 (S301G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 3034223	NM_016030.6(TRAPPC12):c.990C>T (p.Ala330=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 2052049	NM_016030.6(TRAPPC12):c.993G>A (p.Val331=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2888628	NM_016030.6(TRAPPC12):c.1047+10G>A	TRAPPC12	Single nucleotide variant (intron variant)	TRAPPC12-related disorder +1 more	GLikely benign
Select item 1600643	NM_016030.6(TRAPPC12):c.1164+3A>G	TRAPPC12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3051128	NM_016030.6(TRAPPC12):c.1197G>A (p.Leu399=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 2736222	NM_016030.6(TRAPPC12):c.1234G>A (p.Gly412Ser)	TRAPPC12 (G412S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1565060	NM_016030.6(TRAPPC12):c.1262C>T (p.Thr421Met)	TRAPPC12 (T421M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2747984	NM_016030.6(TRAPPC12):c.1383C>T (p.Tyr461=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder +1 more	GBenign
Select item 3053317	NM_016030.6(TRAPPC12):c.1407T>C (p.Pro469=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 1585929	NM_016030.6(TRAPPC12):c.1445T>C (p.Ile482Thr)	TRAPPC12 (I482T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1288076	NM_016030.6(TRAPPC12):c.1773G>C (p.Leu591=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3031112	NM_016030.6(TRAPPC12):c.1797T>C (p.Ala599=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 1181867	NM_016030.6(TRAPPC12):c.1842T>C (p.Asp614=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder +1 more	GBenign
Select item 1639868	NM_016030.6(TRAPPC12):c.1983C>T (p.Ala661=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder +1 more	GLikely benign
Select item 1600070	NM_016030.6(TRAPPC12):c.2157C>T (p.Val719=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1342264	NM_016030.6(TRAPPC12):c.2181C>T (p.Phe727=)	TRAPPC12-AS1, TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder +2 more	GBenign
Select item 3034939	NM_016030.6(TRAPPC12):c.*3G>C	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	TRAPPC12-related disorder	GLikely benign

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Items: 31