PPDPFL[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 153587	GRCh38/hg38 8q11.21-11.23(chr8:47338394-52753188)x3	ALKAL1, CEBPD +90 more	Copy number gain	See cases	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527429	GRCh37/hg19 8q11.1-11.21(chr8:46912309-50818801)	CEBPD, CLXN +7 more	Copy number gain	not specified	GUncertain significance
Select item 1340008	GRCh37/hg19 8q11.21(chr8:49923435-50560385)x3	PPDPFL	Copy number gain	not provided	GLikely benign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 662275	NC_000008.10:g.(?_48270390)_(49987806_?)del	PPDPFL, PRKDC +6 more	Deletion	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	SNTG1, SPIDR +20 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ADAM18, ADAM2 +133 more	Copy number gain	See cases	GUncertain significance

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Items: 27