"Ambry Genetics"[submitter] AND "LOC122757928"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2357676	NM_022065.5(THADA):c.4744C>G (p.Pro1582Ala)	LOC122757928, THADA (P1582A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608533	NM_022065.5(THADA):c.4709C>T (p.Ala1570Val)	LOC122757928, THADA (A1529V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176855	NM_022065.5(THADA):c.4669C>T (p.Arg1557Cys)	LOC122757928, THADA (R1516C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410726	NM_022065.5(THADA):c.4610G>A (p.Arg1537Gln)	LOC122757928, THADA (R1496Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311247	NM_022065.5(THADA):c.4589C>T (p.Ala1530Val)	LOC122757928, THADA (A1529V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2318976	NM_022065.5(THADA):c.4573G>T (p.Ala1525Ser)	LOC122757928, THADA (A1484S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612680	NM_022065.5(THADA):c.4568C>T (p.Ala1523Val)	LOC122757928, THADA (A1482V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279464	NM_022065.5(THADA):c.4528C>G (p.Pro1510Ala)	LOC122757928, THADA (P1510A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance