"Ambry Genetics"[submitter] AND "FAM228B"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2511457	NM_004881.5(TP53I3):c.950T>C (p.Met317Thr)	FAM228B, TP53I3 (M317T)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2288815	NM_004881.5(TP53I3):c.931C>G (p.Gln311Glu)	FAM228B, TP53I3 (Q311E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523965	NM_004881.5(TP53I3):c.785T>C (p.Ile262Thr)	FAM228B, TP53I3 (I262T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369558	NM_004881.5(TP53I3):c.754T>C (p.Ser252Pro)	FAM228B, TP53I3 (S252P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520390	NM_004881.5(TP53I3):c.602C>T (p.Thr201Met)	FAM228B, TP53I3 (T201M)	Single nucleotide variant (missense variant +1 more)	TP53I3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2204509	NM_004881.5(TP53I3):c.313C>G (p.Leu105Val)	FAM228B, TP53I3 (L105V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277542	NM_004881.5(TP53I3):c.187C>T (p.Leu63Phe)	FAM228B, TP53I3 (L63F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317654	NM_004881.5(TP53I3):c.140G>T (p.Arg47Ile)	FAM228B, TP53I3 (R47I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393906	NM_004881.5(TP53I3):c.127G>A (p.Asp43Asn)	FAM228B, TP53I3 (D43N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593913	NM_199346.3(PFN4):c.375A>C (p.Arg125Ser)	FAM228B, PFN4 (R125S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272630	NM_199346.3(PFN4):c.268G>A (p.Val90Met)	FAM228B, PFN4 (V90M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220056	NM_001145710.2(FAM228B):c.75G>T (p.Glu25Asp)	FAM228B (E25D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303424	NM_001145710.2(FAM228B):c.317G>A (p.Arg106Lys)	FAM228B (R106K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348949	NM_001145710.2(FAM228B):c.410A>G (p.Tyr137Cys)	FAM228B (Y137C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513203	NM_001145710.2(FAM228B):c.495T>G (p.Asp165Glu)	FAM228B (D165E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298398	NM_001145710.2(FAM228B):c.499G>A (p.Glu167Lys)	FAM228B (E167K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206655	NM_001145710.2(FAM228B):c.667G>A (p.Glu223Lys)	FAM228B (E86K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance