"PreventionGenetics, part of Exact Sciences"[submitter] AND "TBC1D2B"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058247	NM_144572.2(TBC1D2B):c.2353C>T (p.Arg785Ter)	TBC1D2B (R635* +3 more)	Single nucleotide variant (nonsense)	TBC1D2B-related disorder	GLikely pathogenic
Select item 2633315	NM_144572.2(TBC1D2B):c.2016G>A (p.Trp672Ter)	TBC1D2B (W522* +3 more)	Single nucleotide variant (nonsense)	TBC1D2B-related disorder	GLikely pathogenic
Select item 3059042	NM_144572.2(TBC1D2B):c.159C>G (p.Tyr53Ter)	TBC1D2B (Y53*)	Single nucleotide variant (nonsense)	TBC1D2B-related disorder	GUncertain significance
Select item 3041747	NM_144572.2(TBC1D2B):c.23C>G (p.Ala8Gly)	LOC130057679, TBC1D2B (A8G)	Single nucleotide variant (missense variant)	TBC1D2B-related disorder	GBenign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File