3166[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 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 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	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +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	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +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	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +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 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	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	ABLIM2, ACOX3 +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 148843	GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3	ACOX3, CPZ +54 more	Copy number gain	See cases	GLikely benign
Select item 154746	GRCh38/hg38 4p16.1(chr4:8606112-9556518)x3	CPZ, DEFB131A +28 more	Copy number gain	See cases	GLikely benign
Select item 3042383	NM_001306142.2(HMX1):c.*3G>A	HMX1	Single nucleotide variant (3 prime UTR variant)	HMX1-related disorder	GLikely benign
Select item 1239047	NM_018942.3(HMX1):c.290_291insTGGGC	HMX1	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1286769	NM_018942.3(HMX1):c.*162T>C	HMX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1276867	NM_018942.3(HMX1):c.*146C>T	HMX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1206465	NM_018942.3(HMX1):c.*72G>C	HMX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1271782	NM_018942.3(HMX1):c.*54G>A	HMX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3049799	NM_018942.3(HMX1):c.*2C>T	HMX1	Single nucleotide variant (3 prime UTR variant +1 more)	HMX1-related disorder	GLikely benign
Select item 1920556	NM_018942.3(HMX1):c.1046G>A (p.Ter349=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 860721	NM_018942.3(HMX1):c.1030A>G (p.Met344Val)	HMX1 (M344V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1577458	NM_018942.3(HMX1):c.1026G>A (p.Ala342=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 943587	NM_018942.3(HMX1):c.1024G>A (p.Ala342Thr)	HMX1 (A342T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2533974	NM_018942.3(HMX1):c.1021C>T (p.Arg341Trp)	HMX1 (R341W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1147757	NM_018942.3(HMX1):c.1014C>T (p.Pro338=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2083247	NM_018942.3(HMX1):c.1012C>T (p.Pro338Ser)	HMX1 (P338S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1052754	NM_018942.3(HMX1):c.1001C>T (p.Ala334Val)	HMX1 (A334V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 857801	NM_018942.3(HMX1):c.1001C>G (p.Ala334Gly)	HMX1 (A334G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1515302	NM_018942.3(HMX1):c.1000G>A (p.Ala334Thr)	HMX1 (A334T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1089633	NM_018942.3(HMX1):c.999C>T (p.Ala333=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1353671	NM_018942.3(HMX1):c.995C>A (p.Pro332Gln)	HMX1 (P332Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1563953	NM_018942.3(HMX1):c.993C>T (p.Phe331=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920192	NM_018942.3(HMX1):c.987C>T (p.Ala329=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2328339	NM_018942.3(HMX1):c.986C>T (p.Ala329Val)	HMX1 (A329V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1424177	NM_018942.3(HMX1):c.983T>C (p.Leu328Pro)	HMX1 (L328P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796552	NM_018942.3(HMX1):c.981G>C (p.Pro327=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2073668	NM_018942.3(HMX1):c.981G>A (p.Pro327=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1078772	NM_018942.3(HMX1):c.981G>T (p.Pro327=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	HMX1-related disorder +1 more	GLikely benign
Select item 2008028	NM_018942.3(HMX1):c.977A>T (p.Tyr326Phe)	HMX1 (Y326F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1665762	NM_018942.3(HMX1):c.972C>T (p.Leu324=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 939743	NM_018942.3(HMX1):c.967G>A (p.Ala323Thr)	HMX1 (A323T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2012544	NM_018942.3(HMX1):c.965G>A (p.Gly322Glu)	HMX1 (G322E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1483829	NM_018942.3(HMX1):c.964G>A (p.Gly322Arg)	HMX1 (G322R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1090716	NM_018942.3(HMX1):c.964G>C (p.Gly322Arg)	HMX1 (G322R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1615400	NM_018942.3(HMX1):c.963C>G (p.Ser321=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 939037	NM_018942.3(HMX1):c.961T>G (p.Ser321Ala)	HMX1 (S321A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1158206	NM_018942.3(HMX1):c.960C>T (p.Phe320=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2697355	NM_018942.3(HMX1):c.954C>G (p.Leu318=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2415641	NM_018942.3(HMX1):c.947C>T (p.Pro316Leu)	HMX1 (P316L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1469550	NM_018942.3(HMX1):c.941C>G (p.Pro314Arg)	HMX1 (P314R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1428066	NM_018942.3(HMX1):c.927CGCGCC[3] (p.310AP[3])	HMX1	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2079606	NM_018942.3(HMX1):c.936_937dup (p.Pro313fs)	HMX1 (P313fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1385364	NM_018942.3(HMX1):c.927_935dup (p.307APA[3])	HMX1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1465851	NM_018942.3(HMX1):c.934G>A (p.Ala312Thr)	HMX1 (A312T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1653825	NM_018942.3(HMX1):c.933C>T (p.Pro311=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1053213	NM_018942.3(HMX1):c.933C>A (p.Pro311=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1967998	NM_018942.3(HMX1):c.928G>A (p.Ala310Thr)	HMX1 (A310T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 849352	NM_018942.3(HMX1):c.922C>T (p.Pro308Ser)	HMX1 (P308S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2099993	NM_018942.3(HMX1):c.920C>T (p.Ala307Val)	HMX1 (A307V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1102832	NM_018942.3(HMX1):c.915G>T (p.Pro305=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 846948	NM_018942.3(HMX1):c.913C>T (p.Pro305Ser)	HMX1 (P305S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135511	NM_018942.3(HMX1):c.911T>C (p.Phe304Ser)	HMX1 (F304S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1037555	NM_018942.3(HMX1):c.910T>A (p.Phe304Ile)	HMX1 (F304I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1378358	NM_018942.3(HMX1):c.901A>C (p.Thr301Pro)	HMX1 (T301P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1444540	NM_018942.3(HMX1):c.877_900del (p.Ala293_Ala300del)	HMX1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1432034	NM_018942.3(HMX1):c.898G>A (p.Ala300Thr)	HMX1 (A300T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352741	NM_018942.3(HMX1):c.896C>G (p.Pro299Arg)	HMX1 (P299R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1035474	NM_018942.3(HMX1):c.892C>T (p.Pro298Ser)	HMX1 (P298S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 967068	NM_018942.3(HMX1):c.878_879inv (p.Ala293Val)	HMX1 (A293V)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 669515	NM_018942.3(HMX1):c.879A>G (p.Ala293=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1474542	NM_018942.3(HMX1):c.878C>T (p.Ala293Val)	HMX1 (A293V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920799	NM_018942.3(HMX1):c.874G>T (p.Ala292Ser)	HMX1 (A292S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2267195	NM_018942.3(HMX1):c.872C>T (p.Pro291Leu)	HMX1 (P291L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1515708	NM_018942.3(HMX1):c.872del (p.Pro291fs)	HMX1 (P291fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1487397	NM_018942.3(HMX1):c.872C>G (p.Pro291Arg)	HMX1 (P291R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2107753	NM_018942.3(HMX1):c.867C>T (p.Ser289=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2226708	NM_018942.3(HMX1):c.866G>C (p.Ser289Thr)	HMX1 (S289T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226707	NM_018942.3(HMX1):c.865A>C (p.Ser289Arg)	HMX1 (S289R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284526	NM_018942.3(HMX1):c.862G>A (p.Glu288Lys)	HMX1 (E288K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1577678	NM_018942.3(HMX1):c.861C>T (p.His287=)	HMX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1362901	NM_018942.3(HMX1):c.857A>T (p.Tyr286Phe)	HMX1 (Y286F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928978	NM_018942.3(HMX1):c.853C>T (p.Leu285Phe)	HMX1 (L285F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3106345	NM_018942.3(HMX1):c.850G>A (p.Val284Met)	HMX1 (V284M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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