TRAPPC6A[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 3038422	NM_001270891.2(TRAPPC6A):c.*10G>A	TRAPPC6A	Single nucleotide variant (3 prime UTR variant)	TRAPPC6A-related disorder	GBenign
Select item 2512975	NM_001270891.2(TRAPPC6A):c.470C>G (p.Pro157Arg)	TRAPPC6A (P157R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349719	NM_001270891.2(TRAPPC6A):c.470C>T (p.Pro157Leu)	TRAPPC6A (P157L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328538	NM_001270891.2(TRAPPC6A):c.464T>C (p.Val155Ala)	TRAPPC6A (V155A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043688	NM_001270891.2(TRAPPC6A):c.449-7C>T	TRAPPC6A	Single nucleotide variant (intron variant)	TRAPPC6A-related disorder	GLikely benign
Select item 2228649	NM_001270891.2(TRAPPC6A):c.445G>A (p.Val149Ile)	TRAPPC6A (V163I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274869	NM_001270891.2(TRAPPC6A):c.421A>G (p.Thr141Ala)	LOC130064678, TRAPPC6A (T155A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359603	NM_001270891.2(TRAPPC6A):c.394T>A (p.Tyr132Asn)	LOC130064678, TRAPPC6A (L123Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212499	NM_001270891.2(TRAPPC6A):c.385G>A (p.Gly129Ser)	LOC130064678, TRAPPC6A (R106Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045843	NM_001270891.2(TRAPPC6A):c.383G>A (p.Arg128His)	LOC130064678, TRAPPC6A (R128H +1 more)	Single nucleotide variant (missense variant +1 more)	TRAPPC6A-related disorder	GLikely benign
Select item 2475543	NM_001270891.2(TRAPPC6A):c.335A>G (p.Tyr112Cys)	TRAPPC6A (Y112C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215131	NM_001270891.2(TRAPPC6A):c.331C>A (p.Gln111Lys)	TRAPPC6A (A88E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261606	NM_001270891.2(TRAPPC6A):c.280G>A (p.Val94Ile)	TRAPPC6A (V94I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805851	NM_001270891.2(TRAPPC6A):c.277T>A (p.Tyr93Asn)	TRAPPC6A (Y107N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051159	NM_001270891.2(TRAPPC6A):c.275C>T (p.Thr92Ile)	TRAPPC6A (T106I +1 more)	Single nucleotide variant (missense variant +1 more)	TRAPPC6A-related disorder	GLikely benign
Select item 2395843	NM_001270891.2(TRAPPC6A):c.227C>T (p.Ala76Val)	TRAPPC6A (A76V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060326	NM_001270891.2(TRAPPC6A):c.223G>A (p.Val75Met)	TRAPPC6A (G52D +3 more)	Single nucleotide variant (missense variant)	TRAPPC6A-related disorder	GBenign
Select item 3037458	NM_001270891.2(TRAPPC6A):c.189G>A (p.Leu63=)	TRAPPC6A (G41R +1 more)	Single nucleotide variant (synonymous variant +1 more)	TRAPPC6A-related disorder	GBenign
Select item 3052230	NM_001270891.2(TRAPPC6A):c.168G>A (p.Thr56=)	TRAPPC6A (A34T +1 more)	Single nucleotide variant (synonymous variant +1 more)	TRAPPC6A-related disorder	GLikely benign
Select item 2401299	NM_001270891.2(TRAPPC6A):c.167C>T (p.Thr56Met)	TRAPPC6A (T56M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3037927	NM_001270891.2(TRAPPC6A):c.152+8C>T	TRAPPC6A	Single nucleotide variant (intron variant)	TRAPPC6A-related disorder	GLikely benign
Select item 2236138	NM_001270891.2(TRAPPC6A):c.127C>T (p.Arg43Cys)	TRAPPC6A (R57C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056542	NM_001270891.2(TRAPPC6A):c.91A>G (p.Lys31Glu)	TRAPPC6A (K31E +1 more)	Single nucleotide variant (missense variant +1 more)	TRAPPC6A-related disorder	GLikely benign
Select item 2269066	NM_001270891.2(TRAPPC6A):c.84+32G>A	TRAPPC6A (G39E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511176	NM_001270891.2(TRAPPC6A):c.72C>A (p.Asp24Glu)	TRAPPC6A (D24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359459	NM_001270891.2(TRAPPC6A):c.24G>C (p.Glu8Asp)	TRAPPC6A (E8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 35