55100[Gene ID] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 57963	GRCh38/hg38 5p13.2(chr5:36906275-37606265)x3	CPLANE1, CPLANE1-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 147552	GRCh38/hg38 5p13.2(chr5:37054860-37586108)x3	CPLANE1, CPLANE1-AS1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 57964	GRCh38/hg38 5p13.2(chr5:37157004-37571897)x3	CPLANE1, CPLANE1-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 153988	GRCh38/hg38 5p13.2(chr5:37165366-37721778)x3	CPLANE1, CPLANE1-AS1 +20 more	Copy number gain	See cases	GLikely benign
Select item 152878	GRCh38/hg38 5p13.2(chr5:37239106-37487479)x3	CPLANE1, CPLANE1-AS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2293288	NM_018034.4(WDR70):c.16C>A (p.Pro6Thr)	WDR70 (P6T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331484	NM_018034.4(WDR70):c.103C>T (p.Arg35Cys)	WDR70 (R13C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226296	NM_018034.4(WDR70):c.243G>T (p.Glu81Asp)	WDR70 (E80D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494526	NM_018034.4(WDR70):c.276T>G (p.Asp92Glu)	WDR70 (D70E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330603	NM_018034.4(WDR70):c.356G>A (p.Gly119Asp)	WDR70 (G97D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611677	NM_018034.4(WDR70):c.462G>T (p.Glu154Asp)	WDR70 (E132D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2216948	NM_018034.4(WDR70):c.613G>A (p.Asp205Asn)	WDR70 (D204N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787284	NM_018034.4(WDR70):c.720A>C (p.Thr240=)	WDR70	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409262	NM_018034.4(WDR70):c.726C>G (p.Asp242Glu)	WDR70 (D242E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275108	NM_018034.4(WDR70):c.892G>A (p.Glu298Lys)	WDR70 (E276K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 154284	GRCh38/hg38 5p13.2(chr5:37543146-38120326)x3	GDNF, GDNF-AS1 +13 more	Copy number gain	See cases	GUncertain significance
Select item 549896	Single allele	LOC121056762, LOC123493292 +4 more	Deletion	not specified	GBenign
Select item 2243968	NM_018034.4(WDR70):c.967T>A (p.Phe323Ile)	WDR70 (F301I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309669	NM_018034.4(WDR70):c.1000A>G (p.Ile334Val)	WDR70 (I334V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543806	NM_018034.4(WDR70):c.1006A>G (p.Thr336Ala)	WDR70 (T314A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515172	NM_018034.4(WDR70):c.1010C>T (p.Thr337Met)	WDR70 (T315M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595725	NM_018034.4(WDR70):c.1150G>A (p.Val384Met)	WDR70 (V362M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252376	NM_018034.4(WDR70):c.1163A>G (p.Tyr388Cys)	WDR70 (Y387C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308154	NM_018034.4(WDR70):c.1186C>T (p.Arg396Cys)	WDR70 (R395C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407619	NM_018034.4(WDR70):c.1187G>A (p.Arg396His)	WDR70 (R374H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785120	NM_018034.4(WDR70):c.1197C>T (p.Asp399=)	WDR70	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2508077	NM_018034.4(WDR70):c.1198G>A (p.Asp400Asn)	WDR70 (D378N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338806	NM_018034.4(WDR70):c.1256G>T (p.Gly419Val)	WDR70 (G397V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206548	NM_018034.4(WDR70):c.1373G>A (p.Arg458His)	WDR70 (R457H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242700	NM_018034.4(WDR70):c.1634G>A (p.Arg545Gln)	LOC126807364, WDR70 (R544Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258598	NM_018034.4(WDR70):c.1786A>C (p.Lys596Gln)	WDR70 (K596Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270720	NM_018034.4(WDR70):c.1846A>T (p.Ser616Cys)	WDR70 (S594C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062871	GRCh37/hg19 5p13.2(chr5:37027159-37673405)x3	CPLANE1, NIPBL +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062828	GRCh37/hg19 5p13.2(chr5:37156374-37603305)x3	CPLANE1, NUP155 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2685156	GRCh37/hg19 5p13.2(chr5:37448370-37778559)x1	WDR70	Copy number loss	not provided	GUncertain significance
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	FYB1, GDNF +32 more	Duplication	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527157	GRCh37/hg19 5p13.2(chr5:37237231-37690934)x3	CPLANE1, NUP155 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527156	GRCh37/hg19 5p13.2(chr5:37196741-37592604)	CPLANE1, NUP155 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1340951	GRCh37/hg19 5p13.2(chr5:37414308-37480597)x1	WDR70	Copy number loss	not provided	GLikely benign
Select item 1340504	GRCh37/hg19 5p13.2(chr5:37382795-37472715)x1	WDR70	Copy number loss	not provided	GLikely benign
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 979504	GRCh37/hg19 5p13.2(chr5:37339834-37503173)x1	NUP155, WDR70	Copy number loss	not provided	GUncertain significance
Select item 979502	GRCh37/hg19 5p13.2(chr5:36960223-37813255)x3	WDR70, NUP155 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816514	GRCh37/hg19 5p13.2(chr5:37158123-37591118)x3	NUP155, CPLANE1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 814683	GRCh37/hg19 5p13.2(chr5:37373774-37753977)x3	WDR70	Copy number gain	not provided	GUncertain significance
Select item 814682	GRCh37/hg19 5p13.2(chr5:37156374-37603305)x3	WDR70, CPLANE1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688448	GRCh37/hg19 5p13.2(chr5:37204739-37522074)x3	CPLANE1, NUP155 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688257	GRCh37/hg19 5p13.2(chr5:37039855-37448386)x3	NIPBL, NUP155 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687708	GRCh37/hg19 5p13.2(chr5:37316386-37503127)x1	NUP155, WDR70	Copy number loss	not provided	GUncertain significance
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 686801	GRCh37/hg19 5p13.2(chr5:37259147-37786245)x3	NUP155, WDR70	Copy number gain	not provided	GUncertain significance
Select item 686752	GRCh37/hg19 5p13.2(chr5:36880678-37475775)x3	CPLANE1, NIPBL +2 more	Copy number gain	not provided	GUncertain significance
Select item 685989	GRCh37/hg19 5p13.2(chr5:36879018-37476568)x3	CPLANE1, NIPBL +2 more	Copy number gain	not provided	GUncertain significance
Select item 685875	GRCh37/hg19 5p13.2(chr5:37026725-37685753)x4	CPLANE1, NIPBL +2 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563058	GRCh37/hg19 5p13.2(chr5:37468349-37585849)x1	WDR70	Copy number loss	not provided	GUncertain significance
Select item 563057	GRCh37/hg19 5p13.2(chr5:37376949-37561791)x1	WDR70	Copy number loss	not provided	GUncertain significance
Select item 563056	GRCh37/hg19 5p13.2(chr5:37025046-37685753)x4	CPLANE1, NIPBL +2 more	Copy number gain	not provided	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 549893	Single allele	CPLANE1, NUP155 +1 more	Duplication	Global developmental delay	GLikely benign
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442567	GRCh37/hg19 5p13.2(chr5:37043815-37567893)x3	CPLANE1, NIPBL +2 more	Copy number gain	See cases	GLikely benign
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
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 395391	GRCh37/hg19 5p13.2-13.1(chr5:37298599-39311411)x3	C9, EGFLAM +10 more	Copy number gain	See cases	GUncertain significance
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 79