"Ambry Genetics"[submitter] AND "PHF11"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2454536	NM_001040443.3(PHF11):c.118A>G (p.Met40Val)	PHF11, SETDB2-PHF11 (M1V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316924	NM_001040443.3(PHF11):c.123A>T (p.Glu41Asp)	PHF11, SETDB2-PHF11 (E2D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484498	NM_001040443.3(PHF11):c.254A>T (p.Asp85Val)	PHF11, SETDB2-PHF11 (D85V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258929	NM_001040443.3(PHF11):c.275G>A (p.Ser92Asn)	PHF11, SETDB2-PHF11 (S586N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2549949	NM_001040443.3(PHF11):c.297G>T (p.Lys99Asn)	PHF11, SETDB2-PHF11 (K60N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407306	NM_001040443.3(PHF11):c.500A>C (p.Gln167Pro)	PHF11, SETDB2-PHF11 (Q167P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232914	NM_001040443.3(PHF11):c.547C>T (p.Pro183Ser)	PHF11, SETDB2-PHF11 (P677S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227922	NM_001040443.3(PHF11):c.547C>A (p.Pro183Thr)	PHF11, SETDB2-PHF11 (P677T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482639	NM_001040443.3(PHF11):c.577G>A (p.Glu193Lys)	PHF11, SETDB2-PHF11 (E154K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276446	NM_001040443.3(PHF11):c.694T>A (p.Tyr232Asn)	PHF11, SETDB2-PHF11 (Y193N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268700	NM_001040443.3(PHF11):c.784G>A (p.Gly262Arg)	PHF11, SETDB2-PHF11 (G223R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592588	NM_001040443.3(PHF11):c.814G>A (p.Glu272Lys)	PHF11, SETDB2-PHF11 (E233K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215104	NM_001040443.3(PHF11):c.934T>C (p.Ser312Pro)	PHF11, SETDB2-PHF11 (S273P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468793	NM_001040443.3(PHF11):c.973T>A (p.Ser325Thr)	PHF11, SETDB2-PHF11 (S286T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance