"Ambry Genetics"[submitter] AND "FAM78B"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2344018	NM_001017961.5(FAM78B):c.752G>A (p.Arg251Gln)	FAM78B (R251Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612468	NM_001017961.5(FAM78B):c.738G>A (p.Met246Ile)	FAM78B (M246I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357485	NM_001017961.5(FAM78B):c.674G>A (p.Arg225Gln)	FAM78B (R225Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277484	NM_001017961.5(FAM78B):c.670A>G (p.Ser224Gly)	FAM78B (S224G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2347638	NM_001017961.5(FAM78B):c.662G>A (p.Arg221Gln)	FAM78B (R221Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277486	NM_001017961.5(FAM78B):c.570G>T (p.Lys190Asn)	FAM78B (K190N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227178	NM_001017961.5(FAM78B):c.565A>G (p.Ile189Val)	FAM78B (I189V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550630	NM_001017961.5(FAM78B):c.536C>T (p.Thr179Ile)	FAM78B (T179I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092527	NM_001017961.5(FAM78B):c.467A>G (p.Asn156Ser)	FAM78B (N156S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225268	NM_001017961.5(FAM78B):c.374T>C (p.Val125Ala)	FAM78B (V125A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277485	NM_001017961.5(FAM78B):c.194C>T (p.Thr65Ile)	FAM78B (T65I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance