"Ambry Genetics"[submitter] AND "LOC129992296"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1928094	NM_153365.3(TAPT1):c.170G>T (p.Arg57Leu)	LOC129992296, TAPT1 (R57L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2298148	NM_153365.3(TAPT1):c.154T>C (p.Phe52Leu)	LOC129992296, TAPT1 (F52L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534661	NM_153365.3(TAPT1):c.137T>A (p.Leu46His)	LOC129992296, TAPT1 (L46H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388738	NM_153365.3(TAPT1):c.121C>T (p.Pro41Ser)	LOC129992296, TAPT1 (P41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534659	NM_153365.3(TAPT1):c.114G>C (p.Gln38His)	LOC129992296, TAPT1 (Q38H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173823	NM_153365.3(TAPT1):c.100G>A (p.Gly34Ser)	LOC129992296, TAPT1 (G34S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173826	NM_153365.3(TAPT1):c.86C>G (p.Ala29Gly)	LOC129992296, TAPT1 (A29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1463828	NM_153365.3(TAPT1):c.72C>G (p.Asp24Glu)	LOC129992296, TAPT1 (D24E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2569555	NM_153365.3(TAPT1):c.64C>G (p.Gln22Glu)	LOC129992296, TAPT1 (Q22E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance