285489[geneid] - 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 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	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	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 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +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	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 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	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 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 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 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	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 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	LOC129991980, LOC129991981 +319 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	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 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 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 155045	GRCh38/hg38 4p16.3(chr4:3407550-3942201)x1	ADRA2C, DOK7 +19 more	Copy number loss	See cases	GUncertain significance
Select item 1181261	NC_000004.12:g.3463025del	DOK7	Deletion	not provided	GBenign
Select item 1273079	NC_000004.12:g.3463046G>T	DOK7	Single nucleotide variant	not provided	GBenign
Select item 1214986	NC_000004.12:g.3463202G>A	DOK7	Single nucleotide variant	not provided	GLikely benign
Select item 262861	NM_173660.5(DOK7):c.-30G>T	DOK7	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 193509	NM_173660.5(DOK7):c.-6C>G	DOK7	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 3336041	NM_173660.5(DOK7):c.-5AGA[1] (p.Met1del)	DOK7 (M1del)	Microsatellite (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 2938464	NM_173660.5(DOK7):c.6C>T (p.Thr2=)	DOK7	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1503930	NM_173660.5(DOK7):c.7G>A (p.Glu3Lys)	DOK7 (E3K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 10 +1 more	GUncertain significance
Select item 1662460	NM_173660.5(DOK7):c.12G>A (p.Ala4=)	DOK7	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1985570	NM_173660.5(DOK7):c.27C>T (p.Gly9=)	DOK7	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1564482	NM_173660.5(DOK7):c.27C>A (p.Gly9=)	DOK7	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 654355	NM_173660.5(DOK7):c.28del (p.Gln10fs)	DOK7 (Q10fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2939697	NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)	DOK7 (Q10*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 1648768	NM_173660.5(DOK7):c.30G>A (p.Gln10=)	DOK7	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2069829	NM_173660.5(DOK7):c.31G>C (p.Val11Leu)	DOK7 (V11L)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1005955	NM_173660.5(DOK7):c.32T>C (p.Val11Ala)	DOK7 (V11A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2924088	NM_173660.5(DOK7):c.36G>A (p.Lys12=)	DOK7	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 943714	NM_173660.5(DOK7):c.36G>T (p.Lys12Asn)	DOK7 (K12N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2922065	NM_173660.5(DOK7):c.42G>A (p.Arg14=)	DOK7	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 956398	NM_173660.5(DOK7):c.43G>A (p.Asp15Asn)	DOK7 (D15N)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1640378	NM_173660.5(DOK7):c.45C>T (p.Asp15=)	DOK7	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2601150	NM_173660.5(DOK7):c.46G>T (p.Gly16Cys)	DOK7 (G16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1483321	NM_173660.5(DOK7):c.46G>C (p.Gly16Arg)	DOK7 (G16R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 10 +1 more	GUncertain significance
Select item 2947046	NM_173660.5(DOK7):c.48C>G (p.Gly16=)	DOK7	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1053781	NM_173660.5(DOK7):c.49A>C (p.Lys17Gln)	DOK7 (K17Q)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 2951768	NM_173660.5(DOK7):c.54+8_54+17dup	DOK7	Duplication (splice donor variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1408544	NM_173660.5(DOK7):c.54+3C>T	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 2924393	NM_173660.5(DOK7):c.54+7G>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1035957	NM_173660.5(DOK7):c.54+8C>T	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 2938242	NM_173660.5(DOK7):c.54+9G>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1596047	NM_173660.5(DOK7):c.54+10C>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2939788	NM_173660.5(DOK7):c.54+11G>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2953803	NM_173660.5(DOK7):c.54+13C>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1670955	NM_173660.5(DOK7):c.54+13C>T	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 835508	NM_173660.5(DOK7):c.54+25_55-38del	DOK7	Deletion (intron variant)	Fetal akinesia deformation sequence 1 +3 more	GPathogenic/Likely pathogenic
Select item 2946869	NM_173660.5(DOK7):c.54+16G>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2928887	NM_173660.5(DOK7):c.54+21_54+22del	DOK7	Microsatellite (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 953949	NM_173660.5(DOK7):c.54+19C>T	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 1625625	NM_173660.5(DOK7):c.54+20del	DOK7	Deletion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1111204	NM_173660.5(DOK7):c.54+20G>A	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2929047	NM_173660.5(DOK7):c.54+21C>G	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1618830	NM_173660.5(DOK7):c.54+21C>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1169432	NM_173660.5(DOK7):c.54+32_54+33dup	DOK7	Duplication (intron variant)	Congenital myasthenic syndrome 10 +1 more	GBenign
Select item 1164459	NM_173660.5(DOK7):c.54+33dup	DOK7	Duplication (intron variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign
Select item 1116100	NM_173660.5(DOK7):c.54+21del	DOK7	Deletion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign

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