Related gene-specific medical variations for Gene (Select 51131) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3212067	NM_001040443.3(PHF11):c.651A>C (p.Lys217Asn)	PHF11, SETDB2-PHF11 (K178N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212066	NM_001040443.3(PHF11):c.200C>T (p.Ala67Val)	PHF11, SETDB2-PHF11 (A561V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212065	NM_001040443.3(PHF11):c.194T>C (p.Ile65Thr)	PHF11, SETDB2-PHF11 (I26T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059533	NM_001040443.3(PHF11):c.*9G>A	PHF11, SETDB2-PHF11	Single nucleotide variant (3 prime UTR variant +1 more)	PHF11-related disorder	GBenign
Select item 3059044	NM_001040443.3(PHF11):c.171A>G (p.Leu57=)	PHF11, SETDB2-PHF11	Single nucleotide variant (synonymous variant +1 more)	PHF11-related disorder	GBenign
Select item 3052776	NM_001040443.3(PHF11):c.459-26_459-2dup	PHF11, SETDB2-PHF11	Duplication (splice acceptor variant)	PHF11-related disorder	GLikely benign
Select item 3043542	NM_001040443.3(PHF11):c.420C>T (p.Asp140=)	PHF11, SETDB2-PHF11	Single nucleotide variant (synonymous variant +1 more)	PHF11-related disorder	GLikely benign
Select item 2975967	NM_001040443.3(PHF11):c.94+14GGGC[4]	LOC130009778, PHF11 +1 more	Microsatellite (intron variant +2 more)	not provided	GBenign
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)	not specified	GUncertain significance
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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2454536	NM_001040443.3(PHF11):c.118A>G (p.Met40Val)	PHF11, SETDB2-PHF11 (M1V +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2258929	NM_001040443.3(PHF11):c.275G>A (p.Ser92Asn)	PHF11, SETDB2-PHF11 (S586N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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)	not specified	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)	not specified	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)	not specified	GUncertain significance

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Links from Gene

Items: 22