9948[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	TRMT44, USP17L10 +633 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	ABLIM2, ACOX3 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992180, LOC129992181 +597 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	ABLIM2, ACOX3 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	USP17L22, USP17L24 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	TACC3, TADA2B +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	LOC129992257, LOC129992258 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	LOC129992439, LOC129992440 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992004, LOC129992005 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992188, LOC129992189 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	LOC129992143, LOC129992144 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	LOC123477718, LOC123477719 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	USP17L13, USP17L15 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	LOC129992238, LOC129992239 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	LOC129992303, LOC132089075 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 154544	GRCh38/hg38 4p16.1(chr4:9369290-10250666)x3	DEFB131A, DRD5 +30 more	Copy number gain	See cases	GUncertain significance
Select item 57827	GRCh38/hg38 4p16.1(chr4:9381969-10163409)x3	DEFB131A, DRD5 +29 more	Copy number gain	See cases	GUncertain significance
Select item 155220	GRCh38/hg38 4p16.1(chr4:9500007-10147031)x3	DRD5, LOC123466232 +28 more	Copy number gain	See cases	GUncertain significance
Select item 155078	GRCh38/hg38 4p16.1(chr4:9813097-10714839)x3	CLNK, LOC116158485 +30 more	Copy number gain	See cases	GLikely benign
Select item 151725	GRCh38/hg38 4p16.1(chr4:9813097-10873771)x3	CLNK, LOC116158485 +34 more	Copy number gain	See cases	GUncertain significance
Select item 149359	GRCh38/hg38 4p16.1(chr4:9813220-11009701)x3	CLNK, LOC116158485 +35 more	Copy number gain	See cases	GUncertain significance
Select item 146830	GRCh38/hg38 4p16.1(chr4:9813220-10817946)x3	CLNK, LOC116158485 +34 more	Copy number gain	See cases	GUncertain significance
Select item 153968	GRCh38/hg38 4p16.1(chr4:9846063-10651440)x3	CLNK, LOC116158485 +26 more	Copy number gain	See cases	GUncertain significance
Select item 148806	GRCh38/hg38 4p16.1(chr4:10011787-10873830)x3	CLNK, LOC116158485 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2972620	NM_017491.5(WDR1):c.1820G>A (p.Ter607=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2293089	NM_017491.5(WDR1):c.1808C>T (p.Thr603Ile)	WDR1 (T463I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1653075	NM_017491.5(WDR1):c.1797C>G (p.Val599=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2246237	NM_017491.5(WDR1):c.1795G>C (p.Val599Leu)	WDR1 (V599L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2124063	NM_017491.5(WDR1):c.1782C>T (p.Ser594=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418289	NM_017491.5(WDR1):c.1776G>A (p.Thr592=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912458	NM_017491.5(WDR1):c.1776G>T (p.Thr592=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055992	NM_017491.5(WDR1):c.1773C>T (p.Val591=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892816	NM_017491.5(WDR1):c.1767G>A (p.Thr589=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994868	NM_017491.5(WDR1):c.1762C>A (p.His588Asn)	WDR1 (H588N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473539	NM_017491.5(WDR1):c.1759G>A (p.Glu587Lys)	WDR1 (E447K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2059221	NM_017491.5(WDR1):c.1758C>T (p.Asp586=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 974605	NM_017491.5(WDR1):c.1715A>T (p.Asp572Val)	WDR1 (D432V)	Single nucleotide variant (missense variant)	Lazy leukocyte syndrome	GPathogenic
Select item 1563631	NM_017491.5(WDR1):c.1715-7T>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651305	NM_017491.5(WDR1):c.1715-12C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632218	NM_017491.5(WDR1):c.1715-12C>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928607	NM_017491.5(WDR1):c.1715-14C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777648	NM_017491.5(WDR1):c.1715-18T>C	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601451	NM_017491.5(WDR1):c.1714+15del	WDR1	Deletion (intron variant)	not provided	GBenign
Select item 2420946	NM_017491.5(WDR1):c.1714+10G>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125149	NM_017491.5(WDR1):c.1714+9del	WDR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1607032	NM_017491.5(WDR1):c.1714+9C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184640	NM_017491.5(WDR1):c.1714+8C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1609270	NM_017491.5(WDR1):c.1692G>A (p.Pro564=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370949	NM_017491.5(WDR1):c.1670A>G (p.Tyr557Cys)	WDR1 (Y557C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3002359	NM_017491.5(WDR1):c.1668G>A (p.Val556=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967593	NM_017491.5(WDR1):c.1665G>A (p.Met555Ile)	WDR1 (M555I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2367362	NM_017491.5(WDR1):c.1663A>G (p.Met555Val)	WDR1 (M415V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057843	NM_017491.5(WDR1):c.1648G>A (p.Gly550Ser)	WDR1 (G410S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941984	NM_017491.5(WDR1):c.1647C>T (p.Ser549=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613747	NM_017491.5(WDR1):c.1644C>G (p.Ala548=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1112721	NM_017491.5(WDR1):c.1641T>C (p.Phe547=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703367	NM_017491.5(WDR1):c.1608C>G (p.Val536=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945903	NM_017491.5(WDR1):c.1606G>C (p.Val536Leu)	WDR1 (V536L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105369	NM_017491.5(WDR1):c.1593C>A (p.His531Gln)	WDR1 (H391Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1086883	NM_017491.5(WDR1):c.1587T>C (p.Tyr529=)	WDR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2713754	NM_017491.5(WDR1):c.1584T>C (p.Phe528=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948403	NM_017491.5(WDR1):c.1579G>C (p.Val527Leu)	WDR1 (V527L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2192061	NM_017491.5(WDR1):c.1575C>T (p.Asn525=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002329	NM_017491.5(WDR1):c.1570-8G>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2016642	NM_017491.5(WDR1):c.1570-10C>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725824	NM_017491.5(WDR1):c.1570-11C>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165581	NM_017491.5(WDR1):c.1570-12A>T	WDR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2712158	NM_017491.5(WDR1):c.1570-15T>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977855	NM_017491.5(WDR1):c.1570-19G>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644763	NM_017491.5(WDR1):c.1570-19G>C	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966818	NM_017491.5(WDR1):c.1570-21_1570-20del	WDR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1896472	NM_017491.5(WDR1):c.1569+13G>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1444619	NM_017491.5(WDR1):c.1569+12C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3055766	NM_017491.5(WDR1):c.1569+10G>T	WDR1	Single nucleotide variant (intron variant)	WDR1-related condition	GLikely benign
Select item 1663693	NM_017491.5(WDR1):c.1569+10G>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540090	NM_017491.5(WDR1):c.1569+9C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168073	NM_017491.5(WDR1):c.1569G>A (p.Ser523=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 739850	NM_017491.5(WDR1):c.1568C>T (p.Ser523Leu)	WDR1 (S383L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2965646	NM_017491.5(WDR1):c.1566C>T (p.Tyr522=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117365	NM_017491.5(WDR1):c.1562del (p.Gly521fs)	WDR1 (G381fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1058658	NM_017491.5(WDR1):c.1561G>A (p.Gly521Ser)	WDR1 (G381S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537794	NM_017491.5(WDR1):c.1560C>T (p.Asp520=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358299	NM_017491.5(WDR1):c.1556C>T (p.Ala519Val)	WDR1 (A379V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530286	NM_017491.5(WDR1):c.1551C>T (p.Ser517=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804989	NM_017491.5(WDR1):c.1542A>G (p.Thr514=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426787	NM_017491.5(WDR1):c.1536G>A (p.Val512=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049456	NM_017491.5(WDR1):c.1524C>T (p.Asp508=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896941	NM_017491.5(WDR1):c.1521C>T (p.Cys507=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416708	NM_017491.5(WDR1):c.1515G>A (p.Ala505=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1967652	NM_017491.5(WDR1):c.1515G>T (p.Ala505=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725060	NM_017491.5(WDR1):c.1512C>T (p.Leu504=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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