PHF19[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 3212097	NM_015651.3(PHF19):c.1662G>C (p.Lys554Asn)	PHF19 (K573N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212096	NM_015651.3(PHF19):c.1640G>A (p.Gly547Glu)	PHF19 (G338E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212095	NM_015651.3(PHF19):c.1447A>T (p.Met483Leu)	PHF19 (M483L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292897	NM_015651.3(PHF19):c.1109A>G (p.Lys370Arg)	PHF19 (K161R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212094	NM_015651.3(PHF19):c.1106G>A (p.Arg369His)	PHF19 (R160H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588071	NM_015651.3(PHF19):c.1021A>G (p.Ile341Val)	PHF19 (I132V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558317	NM_015651.3(PHF19):c.1002G>C (p.Lys334Asn)	PHF19 (K125N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212101	NM_015651.3(PHF19):c.990C>G (p.Ile330Met)	PHF19 (I121M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274579	NM_015651.3(PHF19):c.844T>C (p.Phe282Leu)	PHF19 (F73L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539062	NM_015651.3(PHF19):c.760G>A (p.Glu254Lys)	PHF19 (E254K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481216	NM_015651.3(PHF19):c.697A>T (p.Met233Leu)	PHF19 (M24L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389774	NM_015651.3(PHF19):c.626G>A (p.Arg209Gln)	PHF19 (R209Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613610	NM_015651.3(PHF19):c.546G>C (p.Glu182Asp)	PHF19 (E201D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251450	NM_015651.3(PHF19):c.451G>A (p.Ala151Thr)	PHF19 (A151T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212100	NM_015651.3(PHF19):c.388C>A (p.Pro130Thr)	PHF19 (P125H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454441	NM_015651.3(PHF19):c.326C>T (p.Pro109Leu)	PHF19 (P109L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400696	NM_015651.3(PHF19):c.317C>T (p.Thr106Ile)	PHF19 (T106I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535866	NM_015651.3(PHF19):c.302T>A (p.Ile101Asn)	PHF19 (I101N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607954	NM_015651.3(PHF19):c.292A>C (p.Lys98Gln)	PHF19 (K117Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 1330179	GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1	ASTN2, BRINP1 +19 more	Copy number loss	Intellectual disability, borderline +5 more	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 42