345462[Gene ID] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	LOC129995377, LOC129995378 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	ADAMTS2, ARL10 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	ADAMTS2, ARL10 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	LOC129995370, LOC129995371 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 155523	GRCh38/hg38 5q35.3(chr5:178983149-179627701)x3	ADAMTS2, GRM6 +20 more	Copy number gain	See cases	GLikely benign
Select item 148408	GRCh38/hg38 5q35.3(chr5:178988364-179593557)x3	ADAMTS2, GRM6 +14 more	Copy number gain	See cases	GLikely benign
Select item 2410224	NM_001136116.3(ZNF879):c.92T>C (p.Leu31Pro)	ZNF879 (L31P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262664	NM_001136116.3(ZNF879):c.109G>A (p.Ala37Thr)	ZNF879 (A37T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2227650	NM_001136116.3(ZNF879):c.407G>C (p.Arg136Thr)	ZNF879 (R136T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534109	NM_001136116.3(ZNF879):c.410T>G (p.Leu137Arg)	ZNF879 (L137R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324241	NM_001136116.3(ZNF879):c.470G>T (p.Gly157Val)	ZNF879 (G157V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212548	NM_001136116.3(ZNF879):c.506C>T (p.Ser169Leu)	ZNF879 (S169L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483365	NM_001136116.3(ZNF879):c.512T>C (p.Ile171Thr)	ZNF879 (I171T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496020	NM_001136116.3(ZNF879):c.547C>A (p.Pro183Thr)	ZNF879 (P183T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508985	NM_001136116.3(ZNF879):c.551G>A (p.Arg184His)	ZNF879 (R184H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2268459	NM_001136116.3(ZNF879):c.601C>T (p.Arg201Cys)	ZNF879 (R201C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336808	NM_001136116.3(ZNF879):c.840A>C (p.Arg280Ser)	ZNF879 (R280S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248555	NM_001136116.3(ZNF879):c.881G>C (p.Gly294Ala)	ZNF879 (G294A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541961	NM_001136116.3(ZNF879):c.985T>G (p.Ser329Ala)	ZNF879 (S329A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352004	NM_001136116.3(ZNF879):c.1044G>C (p.Gln348His)	ZNF879 (Q348H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281440	NM_001136116.3(ZNF879):c.1083G>C (p.Arg361Ser)	ZNF879 (R361S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324297	NM_001136116.3(ZNF879):c.1511G>T (p.Arg504Ile)	ZNF879 (R504I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254484	NM_001136116.3(ZNF879):c.1535A>G (p.Tyr512Cys)	ZNF879 (Y512C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272548	NM_001136116.3(ZNF879):c.1564A>G (p.Arg522Gly)	ZNF879 (R522G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517625	NM_001136116.3(ZNF879):c.1649G>T (p.Ser550Ile)	ZNF879 (S550I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2425920	NC_000005.9:g.(?_178408658)_(178585900_?)del	ADAMTS2, GRM6 +2 more	Deletion	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 2424787	NC_000005.9:g.(?_178413111)_(179263593_?)dup	ADAMTS2, C5orf60 +11 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more	GUncertain significance
Select item 2423423	NC_000005.9:g.(?_178408658)_(178772329_?)del	ADAMTS2, GRM6 +2 more	Deletion	not provided	GPathogenic
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1809018	GRCh37/hg19 5q35.3(chr5:178125235-178759093)x1	ADAMTS2, GRM6 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527208	GRCh37/hg19 5q35.3(chr5:178397790-178649201)	ADAMTS2, GRM6 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 1527206	GRCh37/hg19 5q35.3(chr5:177926393-178613706)	ADAMTS2, CLK4 +8 more	Copy number loss	not specified	GUncertain significance
Select item 1511116	NC_000005.9:g.(?_178413111)_(178700085_?)dup	ADAMTS2, GRM6 +2 more	Duplication	not provided	GUncertain significance
Select item 1429944	NC_000005.9:g.(?_178408658)_(178541345_?)dup	ADAMTS2, GRM6 +2 more	Duplication	Ehlers-Danlos syndrome, dermatosparaxis type	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979541	GRCh37/hg19 5q35.3(chr5:178397713-178730385)x3	ZNF354C, ADAMTS2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687207	GRCh37/hg19 5q35.3(chr5:177788681-178982549)x3	ADAMTS2, CLK4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 685882	GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3	COL23A1, ADAMTS2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563133	GRCh37/hg19 5q35.3(chr5:177622252-178478398)x1	ZFP2, GRM6 +8 more	Copy number loss	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 563130	GRCh37/hg19 5q35.3(chr5:176918345-179061393)x1	RUFY1, TMED9 +23 more	Copy number loss	not provided	GPathogenic
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	GPathogenic
Select item 442504	GRCh37/hg19 5q35.3(chr5:178410737-179061393)x3	ADAMTS2, GRM6 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 65