NSD2[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 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 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 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 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 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 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	ADD1, ATP5ME +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 977746	NC_000004.12:g.1869269_1873124del	LOC129992015, LOC129992016 +1 more	Deletion (genic upstream transcript variant)	Wolf-Hirschhorn like syndrome	GUncertain significance
Select item 348402	NM_001042424.3(NSD2):c.-29-6901dup	NSD2	Duplication (intron variant)	4p partial monosomy syndrome	GUncertain significance
Select item 3066216	NM_001042424.3(NSD2):c.-29-2A>G	NSD2	Single nucleotide variant (splice acceptor variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 596675	NM_001042424.3(NSD2):c.9T>G (p.Phe3Leu)	NSD2 (F3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 348417	NM_001042424.3(NSD2):c.11G>A (p.Ser4Asn)	NSD2 (S4N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2506516	NM_001042424.3(NSD2):c.28dup (p.Leu10fs)	NSD2 (L10fs)	Duplication (frameshift variant)	Rauch-Steindl syndrome	GPathogenic
Select item 2662722	NM_001042424.3(NSD2):c.28C>T (p.Leu10Phe)	NSD2 (L10F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164901	NM_001042424.3(NSD2):c.72A>G (p.Ala24=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706216	NM_001042424.3(NSD2):c.77A>C (p.Glu26Ala)	NSD2 (E26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304199	NM_001042424.3(NSD2):c.80T>G (p.Ile27Ser)	NSD2 (I27S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761727	NM_001042424.3(NSD2):c.84C>T (p.Leu28=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157196	NM_001042424.3(NSD2):c.85G>A (p.Gly29Ser)	NSD2 (G29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633986	NM_001042424.3(NSD2):c.88A>G (p.Ser30Gly)	NSD2 (S30G)	Single nucleotide variant (missense variant)	NSD2-related condition	GUncertain significance
Select item 1680149	NM_001042424.3(NSD2):c.89G>T (p.Ser30Ile)	NSD2 (S30I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957421	NM_001042424.3(NSD2):c.96C>T (p.Asn32=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 620386	NM_001042424.3(NSD2):c.154C>T (p.Gln52Ter)	NSD2 (Q52*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 756900	NM_001042424.3(NSD2):c.169C>T (p.Leu57=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729024	NM_001042424.3(NSD2):c.171G>T (p.Leu57=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945741	NM_001042424.3(NSD2):c.180G>A (p.Gly60=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 348419	NM_001042424.3(NSD2):c.198C>T (p.Asn66=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2187109	NM_001042424.3(NSD2):c.199G>A (p.Gly67Ser)	NSD2 (G67S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1680150	NM_001042424.3(NSD2):c.207C>T (p.Asp69=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535770	NM_001042424.3(NSD2):c.209C>A (p.Ala70Asp)	NSD2 (A70D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 348421	NM_001042424.3(NSD2):c.216C>G (p.Pro72=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 348422	NM_001042424.3(NSD2):c.228C>T (p.Ala76=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2504971	NM_001042424.3(NSD2):c.242A>T (p.Asp81Val)	NSD2 (D81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341795	NM_001042424.3(NSD2):c.274G>A (p.Gly92Ser)	NSD2 (G92S)	Single nucleotide variant (missense variant)	Wolf-Hirschhorn like syndrome	GUncertain significance
Select item 1981241	NM_001042424.3(NSD2):c.276C>T (p.Gly92=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2462269	NM_001042424.3(NSD2):c.277G>A (p.Ala93Thr)	NSD2 (A93T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1680151	NM_001042424.3(NSD2):c.282C>T (p.His94=)	NSD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168816	NM_001042424.3(NSD2):c.296G>A (p.Arg99His)	NSD2 (R99H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501370	NM_001042424.3(NSD2):c.302A>G (p.Glu101Gly)	NSD2 (E101G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2609975	NM_001042424.3(NSD2):c.304T>A (p.Ser102Thr)	NSD2 (S102T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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