NAT8L[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 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 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 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 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 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 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 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 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 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 148893	GRCh38/hg38 4p16.3(chr4:1723429-2286479)x3	FGFR3, HAUS3 +37 more	Copy number gain	See cases	GUncertain significance
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 3176580	NM_178557.4(NAT8L):c.13C>T (p.Pro5Ser)	NAT8L (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302998	NM_178557.4(NAT8L):c.16C>A (p.Pro6Thr)	NAT8L (P6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248512	NM_178557.4(NAT8L):c.43G>T (p.Val15Leu)	NAT8L (V15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298487	NM_178557.4(NAT8L):c.65C>T (p.Ala22Val)	NAT8L (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298486	NM_178557.4(NAT8L):c.71C>G (p.Pro24Arg)	NAT8L (P24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176639	NM_178557.4(NAT8L):c.85G>A (p.Asp29Asn)	NAT8L (D29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060891	NM_178557.4(NAT8L):c.96C>T (p.Leu32=)	NAT8L	Single nucleotide variant (synonymous variant)	NAT8L-related disorder	GBenign
Select item 781845	NM_178557.4(NAT8L):c.105C>T (p.Ala35=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512035	NM_178557.4(NAT8L):c.106G>A (p.Gly36Ser)	NAT8L (G36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176583	NM_178557.4(NAT8L):c.154C>T (p.Pro52Ser)	NAT8L (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569409	NM_178557.4(NAT8L):c.157C>G (p.Pro53Ala)	NAT8L (P53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727925	NM_178557.4(NAT8L):c.168A>C (p.Pro56=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3176591	NM_178557.4(NAT8L):c.175C>T (p.Pro59Ser)	NAT8L (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520769	NM_178557.4(NAT8L):c.176C>T (p.Pro59Leu)	NAT8L (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388465	NM_178557.4(NAT8L):c.184C>G (p.Gln62Glu)	NAT8L (Q62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534311	NM_178557.4(NAT8L):c.191A>G (p.His64Arg)	NAT8L (H64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 30849	NM_178557.4(NAT8L):c.212_230del (p.Gly71fs)	NAT8L (G71fs)	Deletion (frameshift variant)	N-acetylaspartate deficiency	GPathogenic
Select item 2270031	NM_178557.4(NAT8L):c.212G>C (p.Gly71Ala)	NAT8L (G71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210993	NM_178557.4(NAT8L):c.220G>C (p.Gly74Arg)	NAT8L (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734515	NM_178557.4(NAT8L):c.225G>C (p.Gly75=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762558	NM_178557.4(NAT8L):c.243C>G (p.Arg81=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3176606	NM_178557.4(NAT8L):c.344C>T (p.Pro115Leu)	NAT8L (P115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782991	NM_178557.4(NAT8L):c.345G>A (p.Pro115=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2594565	NM_178557.4(NAT8L):c.347G>A (p.Arg116His)	NAT8L (R116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298488	NM_178557.4(NAT8L):c.358C>G (p.Leu120Val)	NAT8L (L120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233500	NM_178557.4(NAT8L):c.376+14G>A	NAT8L	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 712889	NM_178557.4(NAT8L):c.431C>T (p.Ala144Val)	NAT8L (A144V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2348926	NM_178557.4(NAT8L):c.472C>T (p.Arg158Cys)	NAT8L (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045616	NM_178557.4(NAT8L):c.541+7C>T	NAT8L	Single nucleotide variant (intron variant)	NAT8L-related disorder	GLikely benign
Select item 708780	NM_178557.4(NAT8L):c.541+8C>T	NAT8L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3176619	NM_178557.4(NAT8L):c.562G>A (p.Val188Met)	NAT8L (V188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552104	NM_178557.4(NAT8L):c.670A>C (p.Ile224Leu)	NAT8L (I224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792279	NM_178557.4(NAT8L):c.672C>T (p.Ile224=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731692	NM_178557.4(NAT8L):c.681G>A (p.Ala227=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333484	NM_178557.4(NAT8L):c.689G>A (p.Arg230Gln)	NAT8L (R230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250754	NM_178557.4(NAT8L):c.702G>A (p.Glu234=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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