ClinVar for Gene (Select 653308) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316940	NM_001321958.2(ASAH2B):c.94G>A (p.Gly32Ser)	ASAH2B (G32S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130027	NM_001321958.2(ASAH2B):c.-5C>T	ASAH2B (R29C)	Single nucleotide variant (missense variant +2 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 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 2526144	NM_001321958.2(ASAH2B):c.-34C>G	ASAH2B (S19C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289665	NM_001321958.2(ASAH2B):c.-74C>A	ASAH2B (Q6K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1341231	GRCh37/hg19 10q11.23(chr10:51919828-52511108)x3	ASAH2, ASAH2B +1 more	Copy number gain	not provided	GUncertain significance
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 687834	GRCh37/hg19 10q11.23-21.1(chr10:52082714-53320354)x3	A1CF, ASAH2B +2 more	Copy number gain	not provided	GUncertain significance
Select item 624468	GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	MSMB, MTRNR2L5 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 563768	GRCh37/hg19 10q11.23-21.1(chr10:52085343-53314592)x3	A1CF, SGMS1 +2 more	Copy number gain	not provided	GUncertain significance
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 442719	GRCh37/hg19 10q11.23-21.1(chr10:52085343-53314592)x3	A1CF, ASAH2B +2 more	Copy number gain	See cases	GUncertain significance
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 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 154129	GRCh38/hg38 10q11.23-21.1(chr10:50453699-51121757)x3	A1CF, ASAH2B +22 more	Copy number gain	See cases	GUncertain significance
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 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 144987	GRCh38/hg38 10q11.23(chr10:50729367-50759170)x3	ASAH2B	Copy number gain	See cases	GBenign
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic

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Items: 26