19656[HGNC] - 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 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 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 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 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 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 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 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 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 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 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 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 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 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 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 146941	GRCh38/hg38 4p16.3(chr4:4027514-4207444)x1	LOC129992127, OTOP1	Copy number loss	See cases	GBenign
Select item 144871	GRCh38/hg38 4p16.3(chr4:4165045-4247526)x3	OTOP1, TMEM128	Copy number gain	See cases	GBenign
Select item 151724	GRCh38/hg38 4p16.3(chr4:4188320-4247526)x3	OTOP1, TMEM128	Copy number gain	See cases	GBenign
Select item 3207293	NM_177998.3(OTOP1):c.1801G>A (p.Ala601Thr)	OTOP1 (A601T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207292	NM_177998.3(OTOP1):c.1714G>A (p.Gly572Arg)	OTOP1 (G572R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207291	NM_177998.3(OTOP1):c.1674G>C (p.Trp558Cys)	OTOP1 (W558C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207290	NM_177998.3(OTOP1):c.1650G>T (p.Leu550Phe)	OTOP1 (L550F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561744	NM_177998.3(OTOP1):c.1642G>T (p.Ala548Ser)	OTOP1 (A548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303658	NM_177998.3(OTOP1):c.1621A>G (p.Lys541Glu)	OTOP1 (K541E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207289	NM_177998.3(OTOP1):c.1604A>T (p.Gln535Leu)	OTOP1 (Q535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207288	NM_177998.3(OTOP1):c.1595G>A (p.Arg532His)	OTOP1 (R532H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204932	NM_177998.3(OTOP1):c.1594C>T (p.Arg532Cys)	OTOP1 (R532C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535011	NM_177998.3(OTOP1):c.1592C>T (p.Pro531Leu)	OTOP1 (P531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317839	NM_177998.3(OTOP1):c.1552G>A (p.Glu518Lys)	OTOP1 (E518K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296898	NM_177998.3(OTOP1):c.1499A>G (p.Asn500Ser)	OTOP1 (N500S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207378	NM_177998.3(OTOP1):c.1439A>G (p.Lys480Arg)	OTOP1 (K480R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303653	NM_177998.3(OTOP1):c.1418C>G (p.Pro473Arg)	OTOP1 (P473R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207287	NM_177998.3(OTOP1):c.1361T>A (p.Leu454His)	OTOP1 (L454H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207286	NM_177998.3(OTOP1):c.1360C>A (p.Leu454Ile)	OTOP1 (L454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207285	NM_177998.3(OTOP1):c.1295C>G (p.Ala432Gly)	OTOP1 (A432G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238766	NM_177998.3(OTOP1):c.1295C>A (p.Ala432Glu)	OTOP1 (A432E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456874	NM_177998.3(OTOP1):c.1258C>T (p.Arg420Cys)	OTOP1 (R420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235711	NM_177998.3(OTOP1):c.1241G>C (p.Cys414Ser)	OTOP1 (C414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207284	NM_177998.3(OTOP1):c.1220G>A (p.Gly407Asp)	OTOP1 (G407D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228583	NM_177998.3(OTOP1):c.1196C>G (p.Ser399Trp)	OTOP1 (S399W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545478	NM_177998.3(OTOP1):c.1177C>G (p.Leu393Val)	OTOP1 (L393V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207283	NM_177998.3(OTOP1):c.1160G>T (p.Arg387Leu)	OTOP1 (R387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207282	NM_177998.3(OTOP1):c.1159C>T (p.Arg387Cys)	OTOP1 (R387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207281	NM_177998.3(OTOP1):c.1145C>G (p.Ser382Cys)	OTOP1 (S382C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207280	NM_177998.3(OTOP1):c.1091C>T (p.Ala364Val)	OTOP1 (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283076	NM_177998.3(OTOP1):c.1039C>T (p.Leu347Phe)	OTOP1 (L347F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394850	NM_177998.3(OTOP1):c.1013G>A (p.Arg338His)	OTOP1 (R338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207279	NM_177998.3(OTOP1):c.1006A>T (p.Ile336Phe)	OTOP1 (I336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303654	NM_177998.3(OTOP1):c.989T>C (p.Val330Ala)	OTOP1 (V330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207300	NM_177998.3(OTOP1):c.986T>G (p.Val329Gly)	OTOP1 (V329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207299	NM_177998.3(OTOP1):c.918C>G (p.Phe306Leu)	OTOP1 (F306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509862	NM_177998.3(OTOP1):c.880C>T (p.Arg294Cys)	OTOP1 (R294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460383	NM_177998.3(OTOP1):c.796G>A (p.Gly266Arg)	OTOP1 (G266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461290	NM_177998.3(OTOP1):c.764C>T (p.Thr255Met)	OTOP1 (T255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381637	NM_177998.3(OTOP1):c.719A>G (p.Asn240Ser)	OTOP1 (N240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207297	NM_177998.3(OTOP1):c.709G>C (p.Gly237Arg)	OTOP1 (G237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303652	NM_177998.3(OTOP1):c.700A>G (p.Ile234Val)	OTOP1 (I234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368760	NM_177998.3(OTOP1):c.688A>G (p.Lys230Glu)	OTOP1 (K230E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599100	NM_177998.3(OTOP1):c.613C>G (p.His205Asp)	OTOP1 (H205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356141	NM_177998.3(OTOP1):c.613C>T (p.His205Tyr)	OTOP1 (H205Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57825	GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3	CYTL1, LINC01396 +38 more	Copy number gain	See cases	GUncertain significance
Select item 3303657	NM_177998.3(OTOP1):c.481T>G (p.Cys161Gly)	OTOP1 (C161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207296	NM_177998.3(OTOP1):c.433G>A (p.Val145Ile)	OTOP1 (V145I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207295	NM_177998.3(OTOP1):c.411C>G (p.Ile137Met)	OTOP1 (I137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477703	NM_177998.3(OTOP1):c.391G>C (p.Gly131Arg)	OTOP1 (G131R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303656	NM_177998.3(OTOP1):c.386G>T (p.Gly129Val)	OTOP1 (G129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408165	NM_177998.3(OTOP1):c.365G>A (p.Arg122His)	OTOP1 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546085	NM_177998.3(OTOP1):c.364C>A (p.Arg122Ser)	OTOP1 (R122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614432	NM_177998.3(OTOP1):c.356G>A (p.Arg119His)	OTOP1 (R119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303655	NM_177998.3(OTOP1):c.308A>G (p.Gln103Arg)	OTOP1 (Q103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493713	NM_177998.3(OTOP1):c.262A>G (p.Ser88Gly)	OTOP1 (S88G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256282	NM_177998.3(OTOP1):c.187A>G (p.Ser63Gly)	OTOP1 (S63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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