1487[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 398

<< First< Prev

Page of 4

	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 1979275	NM_001012614.2(CTBP1):c.1277G>A (p.Ser426Asn)	CTBP1, CTBP1-AS (S437N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1675943	NM_001012614.2(CTBP1):c.1274C>A (p.Ala425Asp)	CTBP1, CTBP1-AS (A425D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962020	NM_001012614.2(CTBP1):c.1272C>T (p.His424=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2191066	NM_001012614.2(CTBP1):c.1269C>T (p.Asp423=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 743627	NM_001012614.2(CTBP1):c.1260G>A (p.Ala420=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1946483	NM_001012614.2(CTBP1):c.1259C>T (p.Ala420Val)	CTBP1, CTBP1-AS (A420V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440596	NM_001012614.2(CTBP1):c.1246G>A (p.Val416Ile)	CTBP1, CTBP1-AS (V416I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1534224	NM_001012614.2(CTBP1):c.1229C>T (p.Pro410Leu)	CTBP1, CTBP1-AS (P410L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2654546	NM_001012614.2(CTBP1):c.1224C>T (p.His408=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892925	NM_001012614.2(CTBP1):c.1218G>A (p.Pro406=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654547	NM_001012614.2(CTBP1):c.1218G>C (p.Pro406=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1635914	NM_001012614.2(CTBP1):c.1214A>T (p.His405Leu)	CTBP1-AS, CTBP1 (H405L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2575621	NM_001012614.2(CTBP1):c.1211C>T (p.Ala404Val)	CTBP1, CTBP1-AS (A404V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926678	NM_001012614.2(CTBP1):c.1209G>T (p.Val403=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 750794	NM_001012614.2(CTBP1):c.1206T>A (p.Pro402=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	CTBP1-related condition +1 more	GBenign/Likely benign
Select item 741351	NM_001012614.2(CTBP1):c.1203C>G (p.Pro401=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2496505	NM_001012614.2(CTBP1):c.1195G>A (p.Gly399Ser)	CTBP1, CTBP1-AS (G400S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2196843	NM_001012614.2(CTBP1):c.1194C>T (p.His398=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1531223	NM_001012614.2(CTBP1):c.1191C>A (p.Ser397=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2191912	NM_001012614.2(CTBP1):c.1188G>A (p.Leu396=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2155998	NM_001012614.2(CTBP1):c.1168G>A (p.Val390Ile)	CTBP1, CTBP1-AS (V390I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2832615	NM_001012614.2(CTBP1):c.1150G>C (p.Ala384Pro)	CTBP1-AS, CTBP1 (A395P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1994820	NM_001012614.2(CTBP1):c.1144A>G (p.Ile382Val)	CTBP1, CTBP1-AS (I382V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1964616	NM_001012614.2(CTBP1):c.1137C>T (p.Pro379=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1947438	NM_001012614.2(CTBP1):c.1125G>A (p.Val375=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1559543	NM_001012614.2(CTBP1):c.1122G>T (p.Val374=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1434331	NM_001012614.2(CTBP1):c.1120G>A (p.Val374Met)	CTBP1, CTBP1-AS (V386M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2889337	NM_001012614.2(CTBP1):c.1119C>T (p.Gly373=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735844	NM_001012614.2(CTBP1):c.1119C>A (p.Gly373=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418107	NM_001012614.2(CTBP1):c.1116G>A (p.Pro372=)	CTBP1, CTBP1-AS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 4