"GeneDx"[submitter] AND "TRAPPC12"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 58810	GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3	ADI1, ALLC +44 more	Copy number gain	See cases	GUncertain significance
Select item 151427	GRCh38/hg38 2p25.3(chr2:3288311-3410171)x3	EIPR1, LOC129932993 +5 more	Copy number gain	See cases	GLikely benign
Select item 58836	GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3	ADI1, ALLC +29 more	Copy number gain	See cases	GUncertain significance
Select item 1273981	NM_016030.6(TRAPPC12):c.432C>T (p.Ala144=)	TRAPPC12	Single nucleotide variant (synonymous variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +1 more	GBenign
Select item 3371489	NM_016030.6(TRAPPC12):c.634G>T (p.Asp212Tyr)	TRAPPC12 (D212Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282559	NM_016030.6(TRAPPC12):c.681T>C (p.Phe227=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1252377	NM_016030.6(TRAPPC12):c.901A>G (p.Ser301Gly)	TRAPPC12 (S301G)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +1 more	GBenign
Select item 1723573	NM_016030.6(TRAPPC12):c.1125C>A (p.Asp375Glu)	TRAPPC12 (D375E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1302583	NM_016030.6(TRAPPC12):c.1531-3C>A	TRAPPC12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3181964	NM_016030.6(TRAPPC12):c.1586C>T (p.Thr529Ile)	TRAPPC12 (T529I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306427	NM_016030.6(TRAPPC12):c.1600C>T (p.Gln534Ter)	TRAPPC12 (Q534*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1419348	NM_016030.6(TRAPPC12):c.1627C>T (p.Arg543Cys)	TRAPPC12 (R543C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252412	NM_016030.6(TRAPPC12):c.1678-2A>C	TRAPPC12	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1635831	NM_016030.6(TRAPPC12):c.1759G>A (p.Gly587Ser)	TRAPPC12 (G587S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1288076	NM_016030.6(TRAPPC12):c.1773G>C (p.Leu591=)	TRAPPC12	Single nucleotide variant (synonymous variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +1 more	GBenign
Select item 1181867	NM_016030.6(TRAPPC12):c.1842T>C (p.Asp614=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2503263	NM_016030.6(TRAPPC12):c.2039T>C (p.Met680Thr)	TRAPPC12, TRAPPC12-AS1 (M680T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3371487	NM_016030.6(TRAPPC12):c.2098A>G (p.Met700Val)	TRAPPC12, TRAPPC12-AS1 (M700V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2504760	NM_016030.6(TRAPPC12):c.2141C>A (p.Ala714Asp)	TRAPPC12, TRAPPC12-AS1 (A714D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3362200	NM_016030.6(TRAPPC12):c.681T>A (p.Phe227Leu)	TRAPPC12 (F227L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3361852	NM_016030.6(TRAPPC12):c.227_228del (p.Pro76fs)	TRAPPC12 (P76fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3361851	NM_016030.6(TRAPPC12):c.997G>A (p.Val333Met)	TRAPPC12 (V333M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 24