ClinVar for Gene (Select 339983) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250754	NM_178557.4(NAT8L):c.702G>A (p.Glu234=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	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 3233499	NM_178557.4(NAT8L):c.705C>T (p.Phe235=)	NAT8L	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3176619	NM_178557.4(NAT8L):c.562G>A (p.Val188Met)	NAT8L (V188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3176591	NM_178557.4(NAT8L):c.175C>T (p.Pro59Ser)	NAT8L (P59S)	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 3176580	NM_178557.4(NAT8L):c.13C>T (p.Pro5Ser)	NAT8L (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068834	NC_000004.11:g.(?_2061053)_(2062890_2065486)del	NAT8L	Deletion	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	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 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 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 3060891	NM_178557.4(NAT8L):c.96C>T (p.Leu32=)	NAT8L	Single nucleotide variant (synonymous variant)	NAT8L-related disorder	GBenign
Select item 3045616	NM_178557.4(NAT8L):c.541+7C>T	NAT8L	Single nucleotide variant (intron variant)	NAT8L-related disorder	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	CTBP1, CYTL1 +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 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2685036	GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4	FAM53A, FGFR3 +13 more	Copy number gain	not provided	GUncertain significance
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 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	PPP2R2C, PROM1 +132 more	Copy number loss	not provided	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 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	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 2569409	NM_178557.4(NAT8L):c.157C>G (p.Pro53Ala)	NAT8L (P53A)	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 2534314	NM_178557.4(NAT8L):c.823C>A (p.Leu275Met)	NAT8L (L275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534313	NM_178557.4(NAT8L):c.815A>G (p.His272Arg)	NAT8L (H272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534312	NM_178557.4(NAT8L):c.805G>T (p.Ala269Ser)	NAT8L (A269S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2520769	NM_178557.4(NAT8L):c.176C>T (p.Pro59Leu)	NAT8L (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	GRK4, HAUS3 +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2389715	NM_178557.4(NAT8L):c.881G>A (p.Arg294His)	NAT8L (R294H)	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 2348926	NM_178557.4(NAT8L):c.472C>T (p.Arg158Cys)	NAT8L (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2302998	NM_178557.4(NAT8L):c.16C>A (p.Pro6Thr)	NAT8L (P6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2248512	NM_178557.4(NAT8L):c.43G>T (p.Val15Leu)	NAT8L (V15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241554	NM_178557.4(NAT8L):c.763G>A (p.Ala255Thr)	NAT8L (A255T)	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 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808616	GRCh37/hg19 4p16.3(chr4:963688-2913553)x3	ADD1, C4orf48 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808341	GRCh37/hg19 4p16.3(chr4:1892740-2503033)x3	C4orf48, HAUS3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1807847	GRCh37/hg19 4p16.3(chr4:68346-2437290)x1	ATP5ME, C4orf48 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1459277	NC_000004.11:g.(?_493125)_(2065854_?)del	ATP5ME, CPLX1 +29 more	Deletion	not provided	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	TACC3, TMEM129 +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1075075	NC_000004.11:g.(?_1619775)_(2181192_?)del	C4orf48, FAM53A +9 more	Deletion	not provided	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979459	GRCh37/hg19 4p16.3(chr4:68345-2503033)x3	HAUS3, GAK +38 more	Copy number gain	not provided	GPathogenic
Select item 979458	GRCh37/hg19 4p16.3(chr4:68345-2137211)x1	POLN, CPLX1 +34 more	Copy number loss	not provided	GPathogenic
Select item 979457	GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1	RGS12, LRPAP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 832912	NC_000004.12:g.(?_2059492)_(2833854_?)del	HAUS3, FAM193A +7 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 814518	GRCh37/hg19 4p16.3(chr4:68345-2786584)x1	NKX1-1, MXD4 +40 more	Copy number loss	not provided	GPathogenic
Select item 813572	NM_178557.4(NAT8L):c.901G>A (p.Glu301Lys)	NAT8L (E301K)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 809610	NM_178557.4(NAT8L):c.733dup (p.Val245fs)	NAT8L (V245fs)	Duplication (frameshift variant)	not provided	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 784605	NM_178557.4(NAT8L):c.789C>T (p.Gly263=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782991	NM_178557.4(NAT8L):c.345G>A (p.Pro115=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781845	NM_178557.4(NAT8L):c.105C>T (p.Ala35=)	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 734515	NM_178557.4(NAT8L):c.225G>C (p.Gly75=)	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 727925	NM_178557.4(NAT8L):c.168A>C (p.Pro56=)	NAT8L	Single nucleotide variant (synonymous variant)	not provided	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 708780	NM_178557.4(NAT8L):c.541+8C>T	NAT8L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 686294	GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	ADD1, ADRA2C +52 more	Copy number gain	not provided	GPathogenic
Select item 625700	GRCh37/hg19 4p16.3(chr4:1305802-2460571)	HAUS3, FAM53A +16 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562880	GRCh37/hg19 4p16.3(chr4:1998507-2986076)x3	NAT8L, GRK4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 562877	GRCh37/hg19 4p16.3(chr4:1770486-2303110)x3	C4orf48, NSD2 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 443042	GRCh37/hg19 4p16.3(chr4:68345-4044985)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic

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