"Ambry Genetics"[submitter] AND "TBC1D7-LOC100130357"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2234343	NM_030948.6(PHACTR1):c.1626G>T (p.Trp542Cys)	PHACTR1, TBC1D7-LOC100130357 +1 more (W519C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596788	NM_030948.6(PHACTR1):c.1688C>G (p.Thr563Ser)	PHACTR1, TBC1D7-LOC100130357 +1 more (T632S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554959	NM_016495.6(TBC1D7):c.878G>T (p.Ser293Ile)	TBC1D7, TBC1D7-LOC100130357 (S247I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454931	NM_016495.6(TBC1D7):c.874T>G (p.Ser292Ala)	TBC1D7, TBC1D7-LOC100130357 (S265A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695747	NM_016495.6(TBC1D7):c.817G>A (p.Ala273Thr)	TBC1D7, TBC1D7-LOC100130357 (A227T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2370219	NM_016495.6(TBC1D7):c.715G>A (p.Ala239Thr)	TBC1D7, TBC1D7-LOC100130357 (A212T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523885	NM_016495.6(TBC1D7):c.613C>G (p.Leu205Val)	LOC126859592, TBC1D7 +1 more (L159V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255833	NM_016495.6(TBC1D7):c.608A>G (p.Tyr203Cys)	LOC126859592, TBC1D7 +1 more (Y203C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569688	NM_016495.6(TBC1D7):c.328C>T (p.Arg110Cys)	TBC1D7, TBC1D7-LOC100130357 (R83C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608531	NM_016495.6(TBC1D7):c.284T>A (p.Val95Asp)	TBC1D7, TBC1D7-LOC100130357 (V68D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362429	NM_016495.6(TBC1D7):c.227A>G (p.Lys76Arg)	TBC1D7-LOC100130357, TBC1D7 (K76R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291838	NM_016495.6(TBC1D7):c.222T>A (p.His74Gln)	TBC1D7-LOC100130357, TBC1D7 (H47Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607333	NM_016495.6(TBC1D7):c.211C>T (p.His71Tyr)	TBC1D7, TBC1D7-LOC100130357 (H44Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340350	NM_016495.6(TBC1D7):c.166C>T (p.Arg56Cys)	TBC1D7, TBC1D7-LOC100130357 (R56C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance