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	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 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	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +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)	OR1L4, PTRH1 +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	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 42