HNRNPH3[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 152357	GRCh38/hg38 10q21.3(chr10:68187812-68333410)x3	ATOH7, HNRNPH3 +20 more	Copy number gain	See cases	GUncertain significance
Select item 3284570	NM_012207.3(HNRNPH3):c.148A>C (p.Met50Leu)	HNRNPH3 (M50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603490	NM_012207.3(HNRNPH3):c.334G>A (p.Gly112Arg)	HNRNPH3 (G112R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3284571	NM_012207.3(HNRNPH3):c.347G>A (p.Arg116Lys)	HNRNPH3 (R116K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2219428	NM_012207.3(HNRNPH3):c.478G>A (p.Gly160Ser)	HNRNPH3 (G154S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270604	NM_012207.3(HNRNPH3):c.559G>A (p.Ala187Thr)	HNRNPH3 (A56T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281197	NM_012207.3(HNRNPH3):c.613C>T (p.Arg205Cys)	HNRNPH3 (R74C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412114	NM_012207.3(HNRNPH3):c.626A>G (p.Asn209Ser)	HNRNPH3 (N101S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569919	NM_012207.3(HNRNPH3):c.820G>A (p.Gly274Ser)	HNRNPH3, RUFY2 (G137S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284569	NM_012207.3(HNRNPH3):c.870G>C (p.Met290Ile)	HNRNPH3, RUFY2 (M284I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
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)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
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 444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	HERC4, HNRNPH3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 27