UVSSA[gene] - 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 155150	GRCh38/hg38 4p16.3(chr4:36424-1562150)x1	ATP5ME, CPLX1 +91 more	Copy number loss	See cases	GUncertain significance
Select item 155105	GRCh38/hg38 4p16.3(chr4:36424-1956092)x1	ATP5ME, CPLX1 +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	LOC129992083, LOC129992084 +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991961, LOC129991962 +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	ATP5ME, BLOC1S4 +504 more	Copy number loss	See cases	GPathogenic
Select item 148311	GRCh38/hg38 4p16.3(chr4:36424-1581567)x3	ATP5ME, CPLX1 +95 more	Copy number gain	See cases	GLikely pathogenic
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 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	LOC129992044, LOC129992045 +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 147744	GRCh38/hg38 4p16.3(chr4:51519-1405362)x1	UVSSA, ZNF141 +90 more	Copy number loss	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	LOC129992123, LOC129992124 +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	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 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC129991976, LOC129991977 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	LOC129992081, LOC129992082 +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	ATP5ME, CFAP99 +175 more	Copy number loss	See cases	GPathogenic
Select item 150613	GRCh38/hg38 4p16.3(chr4:72555-1581567)x1	ATP5ME, CPLX1 +95 more	Copy number loss	See cases	GUncertain significance
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 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	LOC129992015, LOC129992016 +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ADD1, ADRA2C +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	TACC3, TADA2B +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	LOC129992040, LOC129992041 +313 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 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	LOC129992063, LOC129992064 +323 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 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	LOC129992004, LOC129992005 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	LOC129992063, LOC129992064 +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	RNF4, SCARNA22 +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	LOC129992188, LOC129992189 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	ADD1, ADRA2C +438 more	Copy number loss	See cases	GPathogenic
Select item 57823	GRCh38/hg38 4p16.3(chr4:72555-1405362)x3	ATP5ME, CPLX1 +90 more	Copy number gain	See cases	GUncertain significance
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	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 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	LOC123477718, LOC123477719 +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	USP17L13, USP17L15 +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	LOC129992238, LOC129992239 +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 146344	GRCh38/hg38 4p16.3(chr4:620566-1405362)x3	ATP5ME, CPLX1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	ADD1, ATP5ME +206 more	Copy number gain	See cases	GPathogenic
Select item 155266	GRCh38/hg38 4p16.3(chr4:1330963-1370226)x1	LOC129991990, LOC129991991 +4 more	Copy number loss	See cases	GUncertain significance
Select item 145879	GRCh38/hg38 4p16.3(chr4:1330963-1348155)x1	LOC129991990, LOC129991991 +4 more	Copy number loss	See cases	GLikely benign
Select item 31570	NM_020894.4(UVSSA):c.87del (p.Ile31fs)	UVSSA (I31fs)	Deletion (frameshift variant)	UV-sensitive syndrome 3	GPathogenic
Select item 31571	NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg)	UVSSA (C32R)	Single nucleotide variant (missense variant)	UV-sensitive syndrome 3	GPathogenic
Select item 2464694	NM_020894.4(UVSSA):c.121C>T (p.Arg41Cys)	UVSSA (R41C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044630	NM_020894.4(UVSSA):c.123C>T (p.Arg41=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related condition	GBenign
Select item 2344512	NM_020894.4(UVSSA):c.128A>G (p.Tyr43Cys)	UVSSA (Y43C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324475	NM_020894.4(UVSSA):c.221A>G (p.Gln74Arg)	UVSSA (Q74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042840	NM_020894.4(UVSSA):c.303C>T (p.Pro101=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related condition	GLikely benign
Select item 734896	NM_020894.4(UVSSA):c.315G>A (p.Ala105=)	UVSSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 31569	NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter)	UVSSA (K123*)	Single nucleotide variant (nonsense)	UV-sensitive syndrome 3	GPathogenic
Select item 1310963	NM_020894.4(UVSSA):c.418C>G (p.His140Asp)	UVSSA (H140D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310864	NM_020894.4(UVSSA):c.446C>T (p.Thr149Met)	UVSSA (T149M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337019	NM_020894.4(UVSSA):c.459T>G (p.Ser153Arg)	UVSSA (S153R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620673	NM_020894.4(UVSSA):c.481G>A (p.Glu161Lys)	UVSSA (E161K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361556	NM_020894.4(UVSSA):c.508A>G (p.Ile170Val)	UVSSA (I170V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346522	NM_020894.4(UVSSA):c.524C>T (p.Ala175Val)	UVSSA (A175V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052599	NM_020894.4(UVSSA):c.551-6C>T	UVSSA	Single nucleotide variant (intron variant)	UVSSA-related condition	GLikely benign
Select item 2392824	NM_020894.4(UVSSA):c.625G>T (p.Asp209Tyr)	UVSSA (D209Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055793	NM_020894.4(UVSSA):c.636G>A (p.Pro212=)	UVSSA	Single nucleotide variant (synonymous variant)	UVSSA-related condition	GBenign
Select item 2654561	NM_020894.4(UVSSA):c.696G>A (p.Ala232=)	UVSSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292854	NM_020894.4(UVSSA):c.703G>T (p.Val235Leu)	UVSSA (V235L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720788	NM_020894.4(UVSSA):c.737G>A (p.Arg246Gln)	UVSSA (R246Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2292397	NM_020894.4(UVSSA):c.772C>T (p.Pro258Ser)	UVSSA (P258S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511447	NM_020894.4(UVSSA):c.797C>T (p.Ala266Val)	UVSSA (A266V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461860	NM_020894.4(UVSSA):c.853G>A (p.Glu285Lys)	UVSSA (E285K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409863	NM_020894.4(UVSSA):c.863A>T (p.Asp288Val)	UVSSA (D288V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370616	NM_020894.4(UVSSA):c.868G>A (p.Glu290Lys)	UVSSA (E290K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733725	NM_020894.4(UVSSA):c.877G>A (p.Val293Met)	UVSSA (V293M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2279728	NM_020894.4(UVSSA):c.880C>T (p.Arg294Trp)	UVSSA (R294W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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