GAK[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 155150	GRCh38/hg38 4p16.3(chr4:36424-1562150)x1	ATP5ME, CPLX1 +91 more	Copy number loss	See cases	GUncertain significance
Select item 155105	GRCh38/hg38 4p16.3(chr4:36424-1956092)x1	SLC49A3, SPON2 +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	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 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	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148311	GRCh38/hg38 4p16.3(chr4:36424-1581567)x3	ATP5ME, CPLX1 +95 more	Copy number gain	See cases	GLikely pathogenic
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 147744	GRCh38/hg38 4p16.3(chr4:51519-1405362)x1	ATP5ME, CPLX1 +90 more	Copy number loss	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 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	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 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	LOC129992008, LOC129992009 +175 more	Copy number loss	See cases	GPathogenic
Select item 150613	GRCh38/hg38 4p16.3(chr4:72555-1581567)x1	ATP5ME, CPLX1 +95 more	Copy number loss	See cases	GUncertain significance
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 148049	GRCh38/hg38 4p16.3(chr4:72555-1153038)x1	ATP5ME, CPLX1 +58 more	Copy number loss	See cases	GUncertain significance
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 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	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 57823	GRCh38/hg38 4p16.3(chr4:72555-1405362)x3	ATP5ME, CPLX1 +90 more	Copy number gain	See cases	GUncertain significance
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	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 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	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 59419	GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	ATP5ME, CPLX1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146344	GRCh38/hg38 4p16.3(chr4:620566-1405362)x3	ATP5ME, CPLX1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 3280475	NM_005255.4(GAK):c.3923G>C (p.Arg1308Pro)	GAK (R1229P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517081	NM_005255.4(GAK):c.3920C>T (p.Ser1307Phe)	GAK (S1228F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547305	NM_005255.4(GAK):c.3919T>C (p.Ser1307Pro)	GAK (S1228P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720787	NM_005255.4(GAK):c.3899C>T (p.Ser1300Leu)	GAK (S1221L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 778842	NM_005255.4(GAK):c.3891C>T (p.Asp1297=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2495767	NM_005255.4(GAK):c.3886A>C (p.Asn1296His)	GAK (N1296H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787170	NM_005255.4(GAK):c.3861C>T (p.His1287=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409843	NM_005255.4(GAK):c.3851A>G (p.Tyr1284Cys)	GAK (Y1205C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390409	NM_005255.4(GAK):c.3848C>T (p.Pro1283Leu)	GAK (P1283L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097975	NM_005255.4(GAK):c.3806G>A (p.Arg1269His)	GAK (R1190H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265262	NM_005255.4(GAK):c.3794A>G (p.Lys1265Arg)	GAK (K1186R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3097974	NM_005255.4(GAK):c.3779C>T (p.Pro1260Leu)	GAK (P1260L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654529	NM_005255.4(GAK):c.3765C>T (p.Ala1255=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344360	NM_005255.4(GAK):c.3749C>T (p.Thr1250Met)	GAK (T1171M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275425	NM_005255.4(GAK):c.3730G>A (p.Asp1244Asn)	GAK (D1244N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525921	NM_005255.4(GAK):c.3719C>T (p.Thr1240Ile)	GAK (T1161I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720325	NM_005255.4(GAK):c.3653T>G (p.Leu1218Arg)	GAK (L1139R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2300959	NM_005255.4(GAK):c.3638C>T (p.Thr1213Met)	GAK (T1213M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603614	NM_005255.4(GAK):c.3578C>G (p.Ser1193Cys)	GAK (S1114C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097973	NM_005255.4(GAK):c.3472G>A (p.Ala1158Thr)	GAK (A1158T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367518	NM_005255.4(GAK):c.3469G>A (p.Gly1157Arg)	GAK (G1078R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097972	NM_005255.4(GAK):c.3449C>T (p.Ala1150Val)	GAK (A1150V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259684	NM_005255.4(GAK):c.3446A>G (p.Tyr1149Cys)	GAK (Y1070C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713301	NM_005255.4(GAK):c.3416C>G (p.Pro1139Arg)	GAK (P1060R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2488844	NM_005255.4(GAK):c.3409C>G (p.Pro1137Ala)	GAK (P1058A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266245	NM_005255.4(GAK):c.3398C>T (p.Pro1133Leu)	GAK (P1054L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740244	NM_005255.4(GAK):c.3309G>T (p.Gly1103=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2534954	NM_005255.4(GAK):c.3262G>A (p.Asp1088Asn)	GAK (D1009N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364782	NM_005255.4(GAK):c.3243C>G (p.Asp1081Glu)	GAK (D1002E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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