"Ambry Genetics"[submitter] AND "FAM136A"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2383844	NM_001329752.2(FAM136A):c.523G>T (p.Val175Phe)	FAM136A (V153F +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3091836	NM_001329752.2(FAM136A):c.476A>G (p.Gln159Arg)	FAM136A (Q137R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587943	NM_001329752.2(FAM136A):c.464A>G (p.Lys155Arg)	FAM136A (K133R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091834	NM_001329752.2(FAM136A):c.461T>C (p.Met154Thr)	FAM136A (M132T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313589	NM_001329752.2(FAM136A):c.430G>A (p.Ala144Thr)	FAM136A (A122T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491189	NM_001329752.2(FAM136A):c.35C>T (p.Ala12Val)	FAM136A (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091837	NM_001329752.2(FAM136A):c.30G>C (p.Gln10His)	FAM136A (Q10H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537441	NM_001329752.2(FAM136A):c.19C>T (p.Leu7Phe)	FAM136A (L7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318049	NM_001329752.2(FAM136A):c.18G>C (p.Gln6His)	FAM136A (Q6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance