"PreventionGenetics, part of Exact Sciences"[submitter] AND "TBC1D7"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040384	NM_016495.6(TBC1D7):c.867G>T (p.Pro289=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant)	TBC1D7-related disorder	GLikely benign
Select item 2635982	NM_016495.6(TBC1D7):c.499C>T (p.Arg167Trp)	TBC1D7, TBC1D7-LOC100130357 (R140W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 436956	NM_016495.6(TBC1D7):c.406G>A (p.Ala136Thr)	TBC1D7, TBC1D7-LOC100130357 (A136T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 3046514	NM_016495.6(TBC1D7):c.381+56C>T	TBC1D7, TBC1D7-LOC100130357 (P119L)	Single nucleotide variant (missense variant +1 more)	TBC1D7-related disorder	GLikely benign
Select item 3058164	NM_016495.6(TBC1D7):c.381+12C>G	TBC1D7, TBC1D7-LOC100130357 (H104Q)	Single nucleotide variant (missense variant +1 more)	TBC1D7-related disorder	GLikely benign
Select item 3032934	NM_016495.6(TBC1D7):c.378A>T (p.Pro126=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	TBC1D7-related disorder	GLikely benign
Select item 785159	NM_016495.6(TBC1D7):c.342G>A (p.Leu114=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1254892	NM_016495.6(TBC1D7):c.267T>C (p.Leu89=)	TBC1D7-LOC100130357, TBC1D7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2059206	NM_016495.6(TBC1D7):c.171A>G (p.Ala57=)	TBC1D7, TBC1D7-LOC100130357	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 2633044	NM_016495.6(TBC1D7):c.155C>T (p.Pro52Leu)	TBC1D7, TBC1D7-LOC100130357 (P52L)	Single nucleotide variant (missense variant +2 more)	TBC1D7-related disorder	GUncertain significance
Select item 2636487	NM_016495.6(TBC1D7):c.6dup (p.Glu3Ter)	TBC1D7, TBC1D7-LOC100130357 (E3*)	Duplication (nonsense +1 more)	TBC1D7-related disorder	GUncertain significance