NOP14-AS1[gene] - ClinVar

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Items: 89

	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 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 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 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 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 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 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 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	ADD1, ATP5ME +206 more	Copy number gain	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 154242	GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1	ADD1, CFAP99 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 149071	GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3	ADD1, ADRA2C +149 more	Copy number gain	See cases	GUncertain significance
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2257905	NM_001291978.2(NOP14):c.2492G>A (p.Arg831Gln)	NOP14, NOP14-AS1 (R831Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356191	NM_001291978.2(NOP14):c.2491C>T (p.Arg831Trp)	NOP14, NOP14-AS1 (R831W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345261	NM_001291978.2(NOP14):c.2480C>T (p.Ala827Val)	NOP14, NOP14-AS1 (A827V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258571	NM_001291978.2(NOP14):c.2422C>T (p.Arg808Cys)	NOP14-AS1, NOP14 (R808C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482706	NM_001291978.2(NOP14):c.2401A>G (p.Lys801Glu)	NOP14, NOP14-AS1 (K801E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354306	NM_001291978.2(NOP14):c.2323G>A (p.Glu775Lys)	NOP14, NOP14-AS1 (E775K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 731089	NM_001291978.2(NOP14):c.2323G>C (p.Glu775Gln)	NOP14, NOP14-AS1 (E775Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2248927	NM_001291978.2(NOP14):c.2273G>C (p.Ser758Thr)	NOP14-AS1, NOP14 (S758T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396961	NM_001291978.2(NOP14):c.2251C>T (p.Arg751Trp)	NOP14-AS1, NOP14 (R751W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399796	NM_001291978.2(NOP14):c.2245C>T (p.Leu749Phe)	NOP14, NOP14-AS1 (L749F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2210305	NM_001291978.2(NOP14):c.2224G>A (p.Glu742Lys)	NOP14, NOP14-AS1 (E742K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253117	NM_001291978.2(NOP14):c.2185C>G (p.Pro729Ala)	NOP14-AS1, NOP14 (P729A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279513	NM_001291978.2(NOP14):c.2134A>G (p.Met712Val)	NOP14-AS1, NOP14 (M712V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594410	NM_001291978.2(NOP14):c.2102T>C (p.Met701Thr)	NOP14-AS1, NOP14 (M701T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385076	NM_001291978.2(NOP14):c.1919C>T (p.Ala640Val)	NOP14, NOP14-AS1 (A640V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496125	NM_001291978.2(NOP14):c.1741C>T (p.Pro581Ser)	NOP14, NOP14-AS1 (P581S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600339	NM_001291978.2(NOP14):c.1733C>T (p.Thr578Ile)	NOP14-AS1, NOP14 (T578I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334722	NM_001291978.2(NOP14):c.1658G>A (p.Gly553Glu)	NOP14-AS1, NOP14 (G553E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412308	NM_001291978.2(NOP14):c.1610G>A (p.Arg537Gln)	NOP14-AS1, NOP14 (R537Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344827	NM_001291978.2(NOP14):c.1571C>G (p.Ala524Gly)	NOP14-AS1, NOP14 (A524G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024912	NM_001291978.2(NOP14):c.1478C>G (p.Thr493Arg)	LOC126806948, NOP14 +1 more (T493R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2284714	NM_001291978.2(NOP14):c.1397A>T (p.Asn466Ile)	NOP14-AS1, NOP14 (N466I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374239	NM_001291978.2(NOP14):c.1379C>T (p.Pro460Leu)	NOP14, NOP14-AS1 (P460L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264324	NM_001291978.2(NOP14):c.1229G>T (p.Gly410Val)	NOP14-AS1, NOP14 (G410V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323262	NM_001291978.2(NOP14):c.1228G>A (p.Gly410Ser)	NOP14, NOP14-AS1 (G410S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570070	NM_001291978.2(NOP14):c.1121A>G (p.Asp374Gly)	NOP14, NOP14-AS1 (D374G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259692	NM_001291978.2(NOP14):c.1107C>G (p.Asp369Glu)	NOP14-AS1, NOP14 (D369E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259691	NM_001291978.2(NOP14):c.1106A>G (p.Asp369Gly)	NOP14, NOP14-AS1 (D369G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454826	NM_001291978.2(NOP14):c.1105G>A (p.Asp369Asn)	NOP14, NOP14-AS1 (D369N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540920	NM_001291978.2(NOP14):c.1099G>A (p.Gly367Arg)	NOP14, NOP14-AS1 (G367R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2376672	NM_001291978.2(NOP14):c.1031T>G (p.Val344Gly)	NOP14, NOP14-AS1 (V344G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign

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Items: 89