"Invitae"[submitter] AND "TBC1D2B"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 713527	NM_144572.2(TBC1D2B):c.2456A>G (p.Gln819Arg)	TBC1D2B (Q819R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721236	NM_144572.2(TBC1D2B):c.848-5T>C	TBC1D2B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 768719	NM_144572.2(TBC1D2B):c.36C>G (p.Gly12=)	LOC130057679, TBC1D2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance

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