WDR18[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 145089	GRCh38/hg38 19p13.3(chr19:839492-995558)x1	ARID3A, CFD +27 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 3332730	NM_024100.4(WDR18):c.14T>C (p.Met5Thr)	WDR18 (M5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247737	NM_024100.4(WDR18):c.15G>C (p.Met5Ile)	WDR18 (M5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516734	NM_024100.4(WDR18):c.63C>G (p.Ile21Met)	WDR18 (I21M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189871	NM_024100.4(WDR18):c.114G>C (p.Gln38His)	WDR18 (Q38H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332731	NM_024100.4(WDR18):c.134C>G (p.Ala45Gly)	WDR18 (A45G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485428	NM_024100.4(WDR18):c.204G>C (p.Gln68His)	WDR18 (Q68H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316174	NM_024100.4(WDR18):c.233T>C (p.Met78Thr)	WDR18 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332732	NM_024100.4(WDR18):c.241G>C (p.Gly81Arg)	WDR18 (G4R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332737	NM_024100.4(WDR18):c.260C>T (p.Thr87Ile)	WDR18 (T87I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280024	NM_024100.4(WDR18):c.304A>G (p.Ser102Gly)	WDR18 (S102G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459487	NM_024100.4(WDR18):c.316T>C (p.Trp106Arg)	WDR18 (W106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208739	NM_024100.4(WDR18):c.337C>T (p.Leu113Phe)	WDR18 (L113F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189873	NM_024100.4(WDR18):c.356G>A (p.Arg119Gln)	WDR18 (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371777	NM_024100.4(WDR18):c.369C>G (p.Asp123Glu)	WDR18 (D123E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189874	NM_024100.4(WDR18):c.391G>A (p.Gly131Arg)	WDR18 (G131R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205072	NM_024100.4(WDR18):c.448C>T (p.Leu150Phe)	WDR18 (L150F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518855	NM_024100.4(WDR18):c.466G>T (p.Ala156Ser)	WDR18 (A79S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269684	NM_024100.4(WDR18):c.499G>T (p.Val167Phe)	WDR18 (V167F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387270	NM_024100.4(WDR18):c.541G>A (p.Gly181Ser)	WDR18 (G104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332729	NM_024100.4(WDR18):c.559G>A (p.Ala187Thr)	WDR18 (A110T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332734	NM_024100.4(WDR18):c.606G>C (p.Glu202Asp)	WDR18 (E125D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735037	NM_024100.4(WDR18):c.615G>A (p.Ser205=)	WDR18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2281977	NM_024100.4(WDR18):c.717C>G (p.Ile239Met)	WDR18 (I162M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189875	NM_024100.4(WDR18):c.754G>A (p.Glu252Lys)	WDR18 (E175K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189876	NM_024100.4(WDR18):c.769C>T (p.Pro257Ser)	WDR18 (P257S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332736	NM_024100.4(WDR18):c.842G>A (p.Gly281Asp)	WDR18 (G204D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496062	NM_024100.4(WDR18):c.863C>T (p.Ser288Phe)	WDR18 (S288F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189877	NM_024100.4(WDR18):c.890A>G (p.Asp297Gly)	WDR18 (D220G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389744	NM_024100.4(WDR18):c.925C>A (p.Leu309Ile)	WDR18 (L232I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459647	NM_024100.4(WDR18):c.926T>G (p.Leu309Arg)	WDR18 (L309R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189878	NM_024100.4(WDR18):c.949G>T (p.Ala317Ser)	WDR18 (A240S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189879	NM_024100.4(WDR18):c.990C>G (p.Phe330Leu)	WDR18 (F253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263480	NM_024100.4(WDR18):c.1012C>T (p.His338Tyr)	WDR18 (H261Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332733	NM_024100.4(WDR18):c.1103C>G (p.Ser368Trp)	WDR18 (S368W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400577	NM_024100.4(WDR18):c.1127C>G (p.Thr376Arg)	WDR18 (T299R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387884	NM_024100.4(WDR18):c.1144G>A (p.Val382Ile)	WDR18 (V305I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235434	NM_024100.4(WDR18):c.1144G>C (p.Val382Leu)	WDR18 (V305L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307324	NM_024100.4(WDR18):c.1177G>C (p.Gly393Arg)	WDR18 (G316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345745	NM_024100.4(WDR18):c.1201C>T (p.Arg401Cys)	WDR18 (R324C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268775	NM_024100.4(WDR18):c.1205T>C (p.Val402Ala)	WDR18 (V325A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189872	NM_024100.4(WDR18):c.1222G>A (p.Glu408Lys)	WDR18 (E331K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221583	NM_024100.4(WDR18):c.1237C>A (p.Arg413Ser)	WDR18 (R413S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242273	GRCh37/hg19 19p13.3(chr19:916637-1275315)x1	ABCA7, ARHGAP45 +14 more	Copy number loss	not provided	GPathogenic
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	ABCA7, ABHD17A +61 more	Duplication	Neutropenia, severe congenital, 1, autosomal dominant +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ATP5F1D, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 833462	NC_000019.9:g.(?_852319)_(1226656_?)del	ABCA7, ARHGAP45 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832758	NC_000019.9:g.(?_852326)_(1226646_?)del	SBNO2, POLR2E +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 832136	NC_000019.9:g.(?_589926)_(1401495_?)dup	ABCA7, ARHGAP45 +35 more	Duplication	Cerebral creatine deficiency syndrome	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 584311	NC_000019.9:g.(?_852323)_(1222011_?)del	ABCA7, ARHGAP45 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 584004	NC_000019.9:g.(?_852323)_(1226652_?)del	CFD, CNN2 +14 more	Deletion	Peutz-Jeghers syndrome	GPathogenic
Select item 583605	NC_000019.9:g.(?_852319)_(1226656_?)dup	ABCA7, ARHGAP45 +14 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 564597	GRCh37/hg19 19p13.3(chr19:715724-1438636)x3	ABCA7, ARHGAP45 +31 more	Copy number gain	not provided	GUncertain significance
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 458009	NC_000019.9:g.(?_852323)_(1207208_?)dup	SBNO2, ABCA7 +14 more	Duplication	Peutz-Jeghers syndrome	GUncertain significance
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 394512	GRCh37/hg19 19p13.3(chr19:985898-1002665)x3	GRIN3B, WDR18	Copy number gain	See cases	GBenign
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic
Select item 219015	GRCh37/hg19 19p13.3(chr19:823554-1206859)x3	POLR2E, PRTN3 +16 more	Copy number gain	See cases	GUncertain significance

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Items: 84