WDR43[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 155287	GRCh38/hg38 2p23.2(chr2:28557445-29437643)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 154217	GRCh38/hg38 2p23.2(chr2:28561270-29446956)x3	ALK, CLIP4 +37 more	Copy number gain	See cases	GUncertain significance
Select item 149082	GRCh38/hg38 2p23.2(chr2:28574111-29442195)x3	ALK, CLIP4 +35 more	Copy number gain	See cases	GUncertain significance
Select item 152846	GRCh38/hg38 2p23.2(chr2:28689225-28954146)x3	LOC100505774, LOC129388837 +14 more	Copy number gain	See cases	GUncertain significance
Select item 3332836	NM_015131.3(WDR43):c.46G>A (p.Gly16Arg)	WDR43 (G16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514427	NM_015131.3(WDR43):c.95C>T (p.Ala32Val)	WDR43 (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190045	NM_015131.3(WDR43):c.107G>A (p.Gly36Asp)	WDR43 (G36D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190048	NM_015131.3(WDR43):c.136A>T (p.Asn46Tyr)	WDR43 (N46Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297212	NM_015131.3(WDR43):c.145C>T (p.His49Tyr)	WDR43 (H49Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358394	NM_015131.3(WDR43):c.346T>G (p.Leu116Val)	WDR43 (L116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777944	NM_015131.3(WDR43):c.364-10T>A	WDR43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2254725	NM_015131.3(WDR43):c.404A>C (p.His135Pro)	WDR43 (H135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371705	NM_015131.3(WDR43):c.463G>A (p.Val155Ile)	WDR43 (V155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596840	NM_015131.3(WDR43):c.474C>G (p.Cys158Trp)	WDR43 (C158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351693	NM_015131.3(WDR43):c.505A>G (p.Ser169Gly)	WDR43 (S169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190052	NM_015131.3(WDR43):c.506G>A (p.Ser169Asn)	WDR43 (S169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190053	NM_015131.3(WDR43):c.543G>T (p.Lys181Asn)	WDR43 (K181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241955	NM_015131.3(WDR43):c.658A>G (p.Arg220Gly)	WDR43 (R220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190054	NM_015131.3(WDR43):c.750G>C (p.Gln250His)	WDR43 (Q250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190044	NM_015131.3(WDR43):c.1012G>T (p.Ala338Ser)	WDR43 (A338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346264	NM_015131.3(WDR43):c.1076T>C (p.Ile359Thr)	WDR43 (I359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332851	NM_015131.3(WDR43):c.1084G>T (p.Val362Leu)	WDR43 (V362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475476	NM_015131.3(WDR43):c.1231C>T (p.His411Tyr)	WDR43 (H411Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190046	NM_015131.3(WDR43):c.1235A>C (p.His412Pro)	WDR43 (H412P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492580	NM_015131.3(WDR43):c.1271A>G (p.Gln424Arg)	WDR43 (Q424R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217209	NM_015131.3(WDR43):c.1321C>T (p.Arg441Cys)	WDR43 (R441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190047	NM_015131.3(WDR43):c.1322G>A (p.Arg441His)	WDR43 (R441H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318503	NM_015131.3(WDR43):c.1336G>C (p.Asp446His)	WDR43 (D446H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513083	NM_015131.3(WDR43):c.1390G>A (p.Val464Ile)	WDR43 (V464I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190049	NM_015131.3(WDR43):c.1468A>G (p.Ile490Val)	WDR43 (I490V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259112	NM_015131.3(WDR43):c.1553A>G (p.Asn518Ser)	WDR43 (N518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190050	NM_015131.3(WDR43):c.1637C>A (p.Pro546His)	WDR43 (P546H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344447	NM_015131.3(WDR43):c.1681A>G (p.Thr561Ala)	WDR43 (T561A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342299	NM_015131.3(WDR43):c.1771C>G (p.Pro591Ala)	WDR43 (P591A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190051	NM_015131.3(WDR43):c.1813G>A (p.Glu605Lys)	WDR43 (E605K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242779	NM_015131.3(WDR43):c.1826A>G (p.Asp609Gly)	WDR43 (D609G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560772	NM_015131.3(WDR43):c.1993G>A (p.Asp665Asn)	WDR43 (D665N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247359	NC_000002.11:g.(?_29119585)_(29420552_?)dup	ALK, CLIP4 +3 more	Duplication	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062642	GRCh37/hg19 2p23.2-23.1(chr2:28244046-30256324)x3	ALK, BABAM2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 1054327	NC_000002.11:g.(?_29119585)_(29450548_?)dup	ALK, CLIP4 +3 more	Duplication	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 1054326	NC_000002.11:g.(?_29119585)_(30143525_?)dup	ALK, CLIP4 +3 more	Duplication	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 814226	GRCh37/hg19 2p23.2(chr2:28387514-29616031)x3	CLIP4, FOSL2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 687567	GRCh37/hg19 2p23.2(chr2:29030646-29289738)x3	PCARE, SPDYA +3 more	Copy number gain	not provided	GUncertain significance
Select item 686185	GRCh37/hg19 2p23.2(chr2:28980521-29300911)x3	PCARE, PPP1CB +4 more	Copy number gain	not provided	GUncertain significance
Select item 562596	GRCh37/hg19 2p23.2(chr2:29156446-29716164)x4	PCARE, ALK +3 more	Copy number gain	not provided	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442481	GRCh37/hg19 2p23.2-23.1(chr2:28306106-30052309)x3	ALK, BABAM2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 61