WDR70[gene] - ClinVar

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

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +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	LINC02057, LINC02101 +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)	not specified	GUncertain significance
Select item 2331484	NM_018034.4(WDR70):c.103C>T (p.Arg35Cys)	WDR70 (R13C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226296	NM_018034.4(WDR70):c.243G>T (p.Glu81Asp)	WDR70 (E80D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3332915	NM_018034.4(WDR70):c.256A>G (p.Arg86Gly)	WDR70 (R86G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494526	NM_018034.4(WDR70):c.276T>G (p.Asp92Glu)	WDR70 (D70E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332916	NM_018034.4(WDR70):c.314A>G (p.Glu105Gly)	WDR70 (E105G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330603	NM_018034.4(WDR70):c.356G>A (p.Gly119Asp)	WDR70 (G97D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332917	NM_018034.4(WDR70):c.366A>C (p.Leu122Phe)	WDR70 (L100F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611677	NM_018034.4(WDR70):c.462G>T (p.Glu154Asp)	WDR70 (E132D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216948	NM_018034.4(WDR70):c.613G>A (p.Asp205Asn)	WDR70 (D204N +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2275108	NM_018034.4(WDR70):c.892G>A (p.Glu298Lys)	WDR70 (E276K +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2309669	NM_018034.4(WDR70):c.1000A>G (p.Ile334Val)	WDR70 (I334V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543806	NM_018034.4(WDR70):c.1006A>G (p.Thr336Ala)	WDR70 (T314A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515172	NM_018034.4(WDR70):c.1010C>T (p.Thr337Met)	WDR70 (T315M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190205	NM_018034.4(WDR70):c.1088T>C (p.Leu363Ser)	WDR70 (L362S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595725	NM_018034.4(WDR70):c.1150G>A (p.Val384Met)	WDR70 (V362M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252376	NM_018034.4(WDR70):c.1163A>G (p.Tyr388Cys)	WDR70 (Y387C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308154	NM_018034.4(WDR70):c.1186C>T (p.Arg396Cys)	WDR70 (R395C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407619	NM_018034.4(WDR70):c.1187G>A (p.Arg396His)	WDR70 (R374H +2 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2338806	NM_018034.4(WDR70):c.1256G>T (p.Gly419Val)	WDR70 (G397V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332913	NM_018034.4(WDR70):c.1351G>A (p.Gly451Ser)	WDR70 (G450S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206548	NM_018034.4(WDR70):c.1373G>A (p.Arg458His)	WDR70 (R457H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332914	NM_018034.4(WDR70):c.1493A>T (p.Tyr498Phe)	WDR70 (Y498F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332912	NM_018034.4(WDR70):c.1550G>A (p.Arg517Gln)	WDR70 (R517Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242700	NM_018034.4(WDR70):c.1634G>A (p.Arg545Gln)	LOC126807364, WDR70 (R544Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258598	NM_018034.4(WDR70):c.1786A>C (p.Lys596Gln)	WDR70 (K596Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270720	NM_018034.4(WDR70):c.1846A>T (p.Ser616Cys)	WDR70 (S594C +2 more)	Single nucleotide variant (missense variant)	not specified	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	AGXT2, AMACR +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	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +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

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: 86