WDR38[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 3190017	NM_001045476.3(WDR38):c.26T>C (p.Leu9Pro)	LOC130002584, WDR38 (L9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410638	NM_001045476.3(WDR38):c.74A>G (p.Asn25Ser)	WDR38 (N25S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494112	NM_001045476.3(WDR38):c.204C>A (p.Phe68Leu)	WDR38 (F68L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332818	NM_001045476.3(WDR38):c.238A>G (p.Ser80Gly)	WDR38 (S69G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341496	NM_001045476.3(WDR38):c.284C>T (p.Ala95Val)	WDR38 (A84V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190018	NM_001045476.3(WDR38):c.315A>T (p.Gln105His)	WDR38 (Q105H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190019	NM_001045476.3(WDR38):c.361G>A (p.Ala121Thr)	WDR38 (A121T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509211	NM_001045476.3(WDR38):c.382C>T (p.Arg128Trp)	WDR38 (R117W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469827	NM_001045476.3(WDR38):c.410G>A (p.Gly137Asp)	WDR38 (G137D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523512	NM_001045476.3(WDR38):c.422G>A (p.Arg141His)	WDR38 (R141H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190020	NM_001045476.3(WDR38):c.436C>T (p.His146Tyr)	WDR38 (H135Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208222	NM_001045476.3(WDR38):c.439C>T (p.Arg147Cys)	WDR38 (R98C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332817	NM_001045476.3(WDR38):c.440G>A (p.Arg147His)	WDR38 (R98H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332820	NM_001045476.3(WDR38):c.455G>A (p.Ser152Asn)	WDR38 (S103N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332821	NM_001045476.3(WDR38):c.460G>A (p.Asp154Asn)	WDR38 (D105N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455801	NM_001045476.3(WDR38):c.560C>T (p.Ala187Val)	WDR38 (A138V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332819	NM_001045476.3(WDR38):c.588C>G (p.Ser196Arg)	WDR38 (S196R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190021	NM_001045476.3(WDR38):c.716T>C (p.Ile239Thr)	WDR38 (I239T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332822	NM_001045476.3(WDR38):c.734A>G (p.Glu245Gly)	WDR38 (E245G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3190022	NM_001045476.3(WDR38):c.758A>G (p.Tyr253Cys)	WDR38 (Y242C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190023	NM_001045476.3(WDR38):c.763C>T (p.Arg255Cys)	WDR38 (R206C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190024	NM_001045476.3(WDR38):c.784T>C (p.Cys262Arg)	WDR38 (C251R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190025	NM_001045476.3(WDR38):c.806A>C (p.Glu269Ala)	WDR38 (E269A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293839	NM_001045476.3(WDR38):c.889C>A (p.Gln297Lys)	WDR38 (Q297K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190026	NM_001045476.3(WDR38):c.898C>T (p.Arg300Cys)	WDR38 (R252C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401714	NM_001045476.3(WDR38):c.910C>T (p.Arg304Cys)	WDR38 (R256C +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570528	NM_001045476.3(WDR38):c.911G>A (p.Arg304His)	WDR38 (R304H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190027	NM_001045476.3(WDR38):c.919A>C (p.Lys307Gln)	WDR38 (K307Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280695	NC_000009.12:g.124857862A>G	RPL35, WDR38	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3063097	GRCh37/hg19 9q33.3(chr9:127471268-127701091)x3	ARPC5L, GOLGA1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 55