HNRNPF[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	A1CF, AGAP10 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	A1CF, AGAP10 +306 more	Copy number gain	See cases	GPathogenic
Select item 2539971	NM_001098204.2(HNRNPF):c.1240T>G (p.Tyr414Asp)	HNRNPF (Y414D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326380	NM_001098204.2(HNRNPF):c.1106A>G (p.Asn369Ser)	HNRNPF (N369S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497713	NM_001098204.2(HNRNPF):c.781G>A (p.Gly261Arg)	HNRNPF (G261R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2484112	NM_001098204.2(HNRNPF):c.719A>G (p.Tyr240Cys)	HNRNPF (Y240C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323925	NM_001098204.2(HNRNPF):c.658A>G (p.Ile220Val)	HNRNPF (I220V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703094	NM_001098204.2(HNRNPF):c.635G>C (p.Arg212Pro)	HNRNPF (R212P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527583	GRCh37/hg19 10q11.21(chr10:43683704-44151599)	FXYD4, HNRNPF +4 more	Copy number gain	not specified	GUncertain significance
Select item 1340957	GRCh37/hg19 10q11.21(chr10:43683704-44046611)x3	FXYD4, HNRNPF +1 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443388	GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3	BMS1, CSGALNACT2 +8 more	Copy number gain	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 393538	GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3	FXYD4, HNRNPF	Copy number gain	VATER association	GLikely pathogenic

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Items: 26