2261[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 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 155105	GRCh38/hg38 4p16.3(chr4:36424-1956092)x1	SLC49A3, SPON2 +124 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 more	Copy number loss	See cases	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 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 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 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	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 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 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 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 153530	GRCh38/hg38 4p16.3(chr4:68453-1997458)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 161057	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 155257	GRCh38/hg38 4p16.3(chr4:72555-2689579)x1	LOC129992008, LOC129992009 +175 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 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 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 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 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 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 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 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 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 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57903	GRCh38/hg38 4p16.3(chr4:72555-2325477)x1	ATP5ME, CPLX1 +152 more	Copy number loss	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 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 57159	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 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 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 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 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 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 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	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 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 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 59419	GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	ATP5ME, CPLX1 +131 more	Copy number loss	See cases	GPathogenic
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 155580	GRCh38/hg38 4p16.3(chr4:1423130-2053191)x3	FAM53A, FGFR3 +39 more	Copy number gain	See cases	GLikely benign
Select item 155481	GRCh38/hg38 4p16.3(chr4:1699291-1973304)x1	FGFR3, LETM1 +23 more	Copy number loss	See cases	GLikely pathogenic
Select item 148893	GRCh38/hg38 4p16.3(chr4:1723429-2286479)x3	FGFR3, HAUS3 +37 more	Copy number gain	See cases	GUncertain significance
Select item 495323	NC_000004.12:g.1735761_1806926dup	LOC116158483, LOC129992009 +5 more	Duplication	Endometrial carcinoma	GLikely pathogenic
Select item 680176	NM_000142.5(FGFR3):c.-103+129C>A	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251273	NM_000142.5(FGFR3):c.-103+141C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187970	NM_000142.5(FGFR3):c.-102-181G>A	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229898	NM_000142.5(FGFR3):c.-102-18_-102-11del	FGFR3	Deletion (intron variant)	not provided	GBenign
Select item 390394	NM_000142.5(FGFR3):c.-102-9C>T	FGFR3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379389	NM_000142.5(FGFR3):c.-102-3T>C	FGFR3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1679975	NM_000142.5(FGFR3):c.3G>A (p.Met1Ile)	FGFR3 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 591014	NM_000142.5(FGFR3):c.3G>T (p.Met1Ile)	FGFR3 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2185977	NM_000142.5(FGFR3):c.6C>T (p.Gly2=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2602532	NM_000142.5(FGFR3):c.7G>A (p.Ala3Thr)	FGFR3 (A3T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2083082	NM_000142.5(FGFR3):c.13G>C (p.Ala5Pro)	FGFR3 (A5P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2907936	NM_000142.5(FGFR3):c.14C>T (p.Ala5Val)	FGFR3 (A5V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679976	NM_000142.5(FGFR3):c.15C>A (p.Ala5=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2115841	NM_000142.5(FGFR3):c.17G>A (p.Cys6Tyr)	FGFR3 (C6Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 514090	NM_000142.5(FGFR3):c.21C>T (p.Ala7=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1679977	NM_000142.5(FGFR3):c.28C>T (p.Leu10Phe)	FGFR3 (L10F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679978	NM_000142.5(FGFR3):c.30C>T (p.Leu10=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2130757	NM_000142.5(FGFR3):c.39C>G (p.Ala13=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2118965	NM_000142.5(FGFR3):c.40G>A (p.Val14Met)	FGFR3 (V14M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305219	NM_000142.5(FGFR3):c.43G>A (p.Ala15Thr)	FGFR3 (A15T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1197738	NM_000142.5(FGFR3):c.43G>T (p.Ala15Ser)	FGFR3 (A15S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2802675	NM_000142.5(FGFR3):c.51_59del (p.Ala18_Ala20del)	FGFR3	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2913016	NM_000142.5(FGFR3):c.52G>A (p.Ala18Thr)	FGFR3 (A18T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 134394	NM_000142.5(FGFR3):c.62C>A (p.Ser21Tyr)	FGFR3 (S21Y)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 3094802	NM_000142.5(FGFR3):c.65C>T (p.Ser22Leu)	FGFR3 (S22L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2886903	NM_000142.5(FGFR3):c.66G>C (p.Ser22=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1679979	NM_000142.5(FGFR3):c.67G>C (p.Glu23Gln)	FGFR3 (E23Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679980	NM_000142.5(FGFR3):c.69G>A (p.Glu23=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1679981	NM_000142.5(FGFR3):c.72C>T (p.Ser24=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 995688	NM_000142.5(FGFR3):c.75G>A (p.Leu25=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	FGFR3-related disorder +1 more	GLikely benign
Select item 465357	NM_000142.5(FGFR3):c.77G>A (p.Gly26Glu)	FGFR3 (G26E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672985	NM_000142.5(FGFR3):c.82G>A (p.Glu28Lys)	FGFR3 (E28K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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