18860[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	LOC130003758, LOC130003759 +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	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 149970	GRCh38/hg38 10q11.23(chr10:49971505-50699223)x1	AGAP6, ASAH2 +32 more	Copy number loss	See cases	GUncertain significance
Select item 148407	GRCh38/hg38 10q11.23(chr10:50151274-50673230)x3	ASAH2, LOC124403953 +27 more	Copy number gain	See cases	GUncertain significance
Select item 2266952	NM_019893.4(ASAH2):c.1139G>C (p.Gly380Ala)	ASAH2 (G380A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130024	NM_019893.4(ASAH2):c.1103C>T (p.Ser368Phe)	ASAH2 (S368F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610627	NM_019893.4(ASAH2):c.990G>T (p.Lys330Asn)	ASAH2 (K330N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253071	NM_019893.4(ASAH2):c.695A>C (p.Asp232Ala)	ASAH2 (D232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480508	NM_019893.4(ASAH2):c.470G>A (p.Ser157Asn)	ASAH2 (S157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362790	NM_019893.4(ASAH2):c.455G>A (p.Arg152Gln)	ASAH2 (R152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130026	NM_019893.4(ASAH2):c.361A>G (p.Met121Val)	ASAH2 (M121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130025	NM_019893.4(ASAH2):c.338G>T (p.Gly113Val)	ASAH2 (G113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257825	NM_019893.4(ASAH2):c.236C>T (p.Ser79Phe)	ASAH2 (S79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257824	NM_019893.4(ASAH2):c.221C>T (p.Thr74Ile)	ASAH2 (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405605	NM_019893.4(ASAH2):c.196C>T (p.Arg66Cys)	ASAH2 (R66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293731	NM_019893.4(ASAH2):c.112A>G (p.Ile38Val)	ASAH2 (I38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335812	NM_019893.4(ASAH2):c.99C>G (p.Ile33Met)	ASAH2 (I33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600852	NM_019893.4(ASAH2):c.97A>G (p.Ile33Val)	ASAH2 (I33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207067	NM_019893.4(ASAH2):c.64G>A (p.Ala22Thr)	ASAH2 (A22T)	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 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	C10orf71, CHAT +22 more	Deletion	Cockayne syndrome type 2	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 1879150	GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3	AGAP10, AGAP6 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1707432	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1	ASAH2, AGAP6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1341231	GRCh37/hg19 10q11.23(chr10:51919828-52511108)x3	ASAH2, ASAH2B +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340264	GRCh37/hg19 10q11.23(chr10:51735638-52476136)x1	AGAP6, ASAH2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 980918	GRCh37/hg19 10q11.23(chr10:51753154-52166339)x3	AGAP6, ASAH2 +2 more	Copy number gain	not provided	GLikely benign
Select item 974738	NC_000010.10:g.49033586_52417694del	CHAT, DRGX +23 more	Deletion	Megacolon	GLikely pathogenic
Select item 815344	GRCh37/hg19 10q11.23(chr10:51659413-52476136)x1	WASHC2A, SGMS1 +2 more	Copy number loss	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 686014	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	not provided	GUncertain significance
Select item 684950	GRCh37/hg19 10q11.23(chr10:51744546-52428369)x1	SGMS1, WASHC2A +2 more	Copy number loss	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 563756	GRCh37/hg19 10q11.23(chr10:51757722-52431727)x3	AGAP6, SGMS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563754	GRCh37/hg19 10q11.23(chr10:51774712-52431727)x3	WASHC2A, SGMS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563716	GRCh37/hg19 10q11.23(chr10:51910584-52128786)x3	SGMS1, ASAH2	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 443637	GRCh37/hg19 10q11.23(chr10:51735637-52479003)x1	AGAP6, ASAH2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442337	GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3	ASAH2, C10orf53 +22 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 394957	GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	See cases	GLikely pathogenic
Select item 394228	GRCh37/hg19 10q11.23(chr10:51974581-52155084)x3	ASAH2, SGMS1	Copy number gain	See cases	GUncertain significance
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 226205	GRCh37/hg19 10q11.23(chr10:51790819-52167537)	SGMS1, ASAH2 +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 51