19883[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 57825	GRCh38/hg38 4p16.3-16.2(chr4:4207414-5514441)x3	CYTL1, LINC01396 +38 more	Copy number gain	See cases	GUncertain significance
Select item 2226945	NM_145291.4(ZBTB49):c.4G>A (p.Asp2Asn)	ZBTB49 (D2N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333981	NM_145291.4(ZBTB49):c.95A>G (p.Lys32Arg)	ZBTB49 (K32R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253791	NM_145291.4(ZBTB49):c.158T>A (p.Leu53His)	ZBTB49 (L53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192165	NM_145291.4(ZBTB49):c.245T>C (p.Met82Thr)	ZBTB49 (M82T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732460	NM_145291.4(ZBTB49):c.297C>T (p.Asp99=)	ZBTB49	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3333978	NM_145291.4(ZBTB49):c.305A>G (p.Gln102Arg)	ZBTB49 (Q102R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303617	NM_145291.4(ZBTB49):c.346T>G (p.Phe116Val)	ZBTB49 (F116V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302615	NM_145291.4(ZBTB49):c.376C>T (p.Pro126Ser)	ZBTB49 (P126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192166	NM_145291.4(ZBTB49):c.446G>A (p.Ser149Asn)	ZBTB49 (S149N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3333979	NM_145291.4(ZBTB49):c.590C>G (p.Thr197Ser)	ZBTB49 (T197S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192167	NM_145291.4(ZBTB49):c.638A>G (p.Tyr213Cys)	ZBTB49 (Y213C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476601	NM_145291.4(ZBTB49):c.682G>A (p.Ala228Thr)	ZBTB49 (A228T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333980	NM_145291.4(ZBTB49):c.762C>A (p.Ser254Arg)	ZBTB49 (S254R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489764	NM_145291.4(ZBTB49):c.829C>G (p.Leu277Val)	ZBTB49 (L277V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307235	NM_145291.4(ZBTB49):c.906G>C (p.Arg302Ser)	ZBTB49 (R302S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192156	NM_145291.4(ZBTB49):c.1100T>G (p.Phe367Cys)	ZBTB49 (F367C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226391	NM_145291.4(ZBTB49):c.1106G>T (p.Cys369Phe)	ZBTB49 (C369F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333986	NM_145291.4(ZBTB49):c.1108A>C (p.Ile370Leu)	ZBTB49 (I370L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3192157	NM_145291.4(ZBTB49):c.1129G>A (p.Glu377Lys)	ZBTB49 (E377K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608796	NM_145291.4(ZBTB49):c.1141G>A (p.Ala381Thr)	ZBTB49 (A381T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333985	NM_145291.4(ZBTB49):c.1145T>C (p.Leu382Pro)	ZBTB49 (L382P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226365	NM_145291.4(ZBTB49):c.1169A>G (p.Gln390Arg)	ZBTB49 (Q390R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777803	NM_145291.4(ZBTB49):c.1186G>A (p.Ala396Thr)	ZBTB49 (A396T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2344502	NM_145291.4(ZBTB49):c.1187C>T (p.Ala396Val)	ZBTB49 (A396V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787023	NM_145291.4(ZBTB49):c.1200C>T (p.Cys400=)	ZBTB49	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3192158	NM_145291.4(ZBTB49):c.1345A>G (p.Lys449Glu)	ZBTB49 (K449E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192159	NM_145291.4(ZBTB49):c.1628G>C (p.Cys543Ser)	ZBTB49 (C543S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309021	NM_145291.4(ZBTB49):c.1684C>G (p.Pro562Ala)	ZBTB49 (P562A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488998	NM_145291.4(ZBTB49):c.1727C>T (p.Ala576Val)	ZBTB49 (A576V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192160	NM_145291.4(ZBTB49):c.1738C>T (p.Arg580Trp)	ZBTB49 (R580W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526843	NM_145291.4(ZBTB49):c.1839C>G (p.Ser613Arg)	ZBTB49 (S613R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333984	NM_145291.4(ZBTB49):c.1847C>T (p.Ser616Phe)	ZBTB49 (S616F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737378	NM_145291.4(ZBTB49):c.1955A>G (p.Tyr652Cys)	ZBTB49 (Y652C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3192161	NM_145291.4(ZBTB49):c.1976T>A (p.Ile659Asn)	ZBTB49 (I659N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242301	NM_145291.4(ZBTB49):c.1987G>A (p.Gly663Arg)	ZBTB49 (G663R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192162	NM_145291.4(ZBTB49):c.2008C>G (p.Leu670Val)	ZBTB49 (L670V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192163	NM_145291.4(ZBTB49):c.2037G>T (p.Lys679Asn)	ZBTB49 (K679N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494424	NM_145291.4(ZBTB49):c.2078C>T (p.Ser693Leu)	ZBTB49 (S693L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192164	NM_145291.4(ZBTB49):c.2098G>A (p.Gly700Ser)	ZBTB49 (G700S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2250662	NM_145291.4(ZBTB49):c.2133G>A (p.Met711Ile)	ZBTB49 (M711I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558531	NM_145291.4(ZBTB49):c.2167G>A (p.Gly723Ser)	ZBTB49 (G723S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209902	NM_145291.4(ZBTB49):c.2176C>T (p.Pro726Ser)	ZBTB49 (P726S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492350	NM_145291.4(ZBTB49):c.2239A>G (p.Met747Val)	ZBTB49 (M747V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MAEA, MAN2B2 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ADRA2C, AFAP1 +132 more	Copy number loss	not provided	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic

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