"PreventionGenetics, part of Exact Sciences"[submitter] AND "TRAPPC6A" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038422	NM_001270891.2(TRAPPC6A):c.*10G>A	TRAPPC6A	Single nucleotide variant (3 prime UTR variant)	TRAPPC6A-related disorder	GBenign
Select item 3043688	NM_001270891.2(TRAPPC6A):c.449-7C>T	TRAPPC6A	Single nucleotide variant (intron variant)	TRAPPC6A-related disorder	GLikely benign
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 805851	NM_001270891.2(TRAPPC6A):c.277T>A (p.Tyr93Asn)	TRAPPC6A (Y107N +3 more)	Single nucleotide variant (missense variant)	TRAPPC6A-related disorder	GLikely benign
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 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 3037927	NM_001270891.2(TRAPPC6A):c.152+8C>T	TRAPPC6A	Single nucleotide variant (intron variant)	TRAPPC6A-related disorder	GLikely benign
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