"Ambry Genetics"[submitter] AND "FAM153A"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2345624	NM_001413826.1(FAM153A):c.890G>A (p.Arg297Gln)	FAM153A (R374Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476762	NM_001413826.1(FAM153A):c.778G>C (p.Ala260Pro)	FAM153A (A260P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621167	NM_001413826.1(FAM153A):c.698A>T (p.His233Leu)	FAM153A (H310L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354739	NM_001413826.1(FAM153A):c.659T>G (p.Val220Gly)	FAM153A (V220G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598938	NM_001413826.1(FAM153A):c.607G>T (p.Val203Leu)	FAM153A (V280L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359094	NM_001413826.1(FAM153A):c.556G>C (p.Val186Leu)	FAM153A (V186L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336367	NM_001413826.1(FAM153A):c.526C>T (p.Arg176Cys)	FAM153A (R176C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283646	NM_001413826.1(FAM153A):c.495G>C (p.Glu165Asp)	FAM153A (E242D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374078	NM_001413826.1(FAM153A):c.458A>T (p.Glu153Val)	FAM153A (E153V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205766	NM_001413826.1(FAM153A):c.421A>G (p.Thr141Ala)	FAM153A (T141A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378006	NM_001413826.1(FAM153A):c.385G>A (p.Ala129Thr)	FAM153A (A129T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318625	NM_001413826.1(FAM153A):c.100G>A (p.Ala34Thr)	FAM153A (A111T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352283	NM_001413826.1(FAM153A):c.40C>T (p.Arg14Trp)	FAM153A (R14W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance