ClinVar for Gene (Select 55680) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315777	NM_001330103.2(RUFY2):c.1729G>A (p.Glu577Lys)	RUFY2 (E612K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315776	NM_001330103.2(RUFY2):c.595A>G (p.Ile199Val)	RUFY2 (I199V +3 more)	Single nucleotide variant (missense variant +1 more)	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 3157152	NM_001330103.2(RUFY2):c.278G>A (p.Arg93Gln)	RUFY2 (R128Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157151	NM_001330103.2(RUFY2):c.4+345T>G	RUFY2 (W8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157150	NM_001330103.2(RUFY2):c.1232T>G (p.Met411Arg)	RUFY2 (M411R +1 more)	Single nucleotide variant (missense variant +1 more)	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 2604194	NM_001330103.2(RUFY2):c.863A>G (p.Lys288Arg)	RUFY2 (K254R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2516190	NM_001330103.2(RUFY2):c.832G>A (p.Val278Ile)	RUFY2 (V220I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478000	NM_001330103.2(RUFY2):c.1625A>C (p.Glu542Ala)	RUFY2 (E542A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477540	NM_001330103.2(RUFY2):c.1487A>T (p.Gln496Leu)	RUFY2 (Q496L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393363	NM_001330103.2(RUFY2):c.1349A>C (p.Lys450Thr)	RUFY2 (K485T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365921	NM_001330103.2(RUFY2):c.1151G>A (p.Arg384Gln)	RUFY2 (R350Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364516	NM_001330103.2(RUFY2):c.570T>G (p.Ile190Met)	RUFY2 (I156M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332017	NM_001330103.2(RUFY2):c.248C>T (p.Pro83Leu)	RUFY2 (P25L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321882	NM_001330103.2(RUFY2):c.878G>A (p.Gly293Glu)	RUFY2 (G235E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307195	NM_001330103.2(RUFY2):c.1135A>G (p.Asn379Asp)	RUFY2 (N321D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294048	NM_001330103.2(RUFY2):c.119A>G (p.Tyr40Cys)	RUFY2 (Y40C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287299	NM_001330103.2(RUFY2):c.652A>C (p.Ser218Arg)	RUFY2 (S218R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259377	NM_001330103.2(RUFY2):c.925T>C (p.Ser309Pro)	RUFY2 (S275P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255790	NM_001330103.2(RUFY2):c.4+406G>T	RUFY2 (R28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228870	NM_001330103.2(RUFY2):c.259G>C (p.Glu87Gln)	RUFY2 (E122Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214692	NM_001330103.2(RUFY2):c.4+420C>T	RUFY2 (R33C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204429	NM_001330103.2(RUFY2):c.896A>G (p.Asn299Ser)	RUFY2 (N299S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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
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 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 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 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

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Links from Gene

Items: 41