NEIL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 58080	GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3	COMMD4, IMP3 +29 more	Copy number gain	See cases	GPathogenic
Select item 1268945	NM_024608.4(NEIL1):c.-23+263G>A	NEIL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1316934	NM_024608.4(NEIL1):c.-23+315G>A	NEIL1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1280215	NM_024608.4(NEIL1):c.-23+609C>T	LOC130057604, NEIL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236664	NM_024608.4(NEIL1):c.-22-656A>G	NEIL1, LOC130057604	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317467	NM_024608.4(NEIL1):c.-22-639C>T	LOC130057604, NEIL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 771476	NM_024608.4(NEIL1):c.146C>G (p.Ala49Gly)	NEIL1 (A135G +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign/Likely benign
Select item 2306859	NM_024608.4(NEIL1):c.154C>G (p.Arg52Gly)	NEIL1 (R138G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 782887	NM_024608.4(NEIL1):c.203C>A (p.Pro68His)	NEIL1 (P154H +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2615694	NM_024608.4(NEIL1):c.210G>C (p.Gln70His)	NEIL1 (Q156H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2398138	NM_024608.4(NEIL1):c.274G>C (p.Glu92Gln)	NEIL1 (E92Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2216317	NM_024608.4(NEIL1):c.274G>A (p.Glu92Lys)	NEIL1 (E178K +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2398139	NM_024608.4(NEIL1):c.275A>T (p.Glu92Val)	NEIL1 (E178V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 595640	NM_024608.4(NEIL1):c.314dup (p.Pro106fs)	NEIL1 (P106fs +1 more)	Duplication (frameshift variant +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 3191361	NM_024608.4(NEIL1):c.313C>T (p.Pro105Ser)	NEIL1 (P105S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2390199	NM_024608.4(NEIL1):c.356G>A (p.Arg119Gln)	NEIL1 (R119Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3299181	NM_024608.4(NEIL1):c.364C>T (p.Arg122Cys)	NEIL1 (P10L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 790285	NM_024608.4(NEIL1):c.434+2T>C	NEIL1	Single nucleotide variant (splice donor variant)	not provided	GBenign/Likely benign
Select item 1316935	NM_024608.4(NEIL1):c.434+34G>A	NEIL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3037264	NM_024608.4(NEIL1):c.435-819_435-818dup	NEIL1	Duplication (intron variant)	NEIL1-related disorder	GBenign
Select item 2290576	NM_024608.4(NEIL1):c.449G>A (p.Arg150Gln)	NEIL1 (R236Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725847	NM_024608.4(NEIL1):c.546C>G (p.Ile182Met)	NEIL1 (I122M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2394754	NM_024608.4(NEIL1):c.553C>T (p.Arg185Trp)	NEIL1 (R125W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255822	NM_024608.4(NEIL1):c.580G>A (p.Ala194Thr)	NEIL1 (A280T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044045	NM_024608.4(NEIL1):c.619-22CCTGCC[3]	NEIL1	Microsatellite (intron variant)	NEIL1-related disorder	GLikely benign
Select item 2340636	NM_024608.4(NEIL1):c.688C>T (p.His230Tyr)	NEIL1 (H230Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1281887	NM_024608.4(NEIL1):c.719-114_719-113del	MIR631, NEIL1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3191369	NM_024608.4(NEIL1):c.728G>A (p.Gly243Asp)	NEIL1 (G141D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053256	NM_024608.4(NEIL1):c.733G>A (p.Gly245Arg)	NEIL1 (G143R +2 more)	Single nucleotide variant (missense variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 3040483	NM_024608.4(NEIL1):c.753G>A (p.Glu251=)	NEIL1	Single nucleotide variant (synonymous variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 779899	NM_024608.4(NEIL1):c.754G>A (p.Asp252Asn)	NEIL1 (D338N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2256346	NM_024608.4(NEIL1):c.764C>A (p.Ala255Asp)	NEIL1 (A341D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470933	NM_024608.4(NEIL1):c.821G>A (p.Arg274Gln)	NEIL1 (R274Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305400	NM_024608.4(NEIL1):c.838T>G (p.Trp280Gly)	NEIL1 (W178G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389696	NM_024608.4(NEIL1):c.887G>A (p.Arg296His)	NEIL1 (R194H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299182	NM_024608.4(NEIL1):c.899C>G (p.Ser300Cys)	NEIL1 (S300C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040299	NM_024608.4(NEIL1):c.921T>G (p.Pro307=)	NEIL1	Single nucleotide variant (synonymous variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 3191372	NM_024608.4(NEIL1):c.959C>A (p.Ala320Asp)	NEIL1 (A218D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038947	NM_024608.4(NEIL1):c.967A>G (p.Arg323Gly)	NEIL1 (R221G +2 more)	Single nucleotide variant (missense variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 3299180	NM_024608.4(NEIL1):c.969G>T (p.Arg323Ser)	NEIL1 (R323S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053096	NM_024608.4(NEIL1):c.990C>T (p.Asp330=)	NEIL1	Single nucleotide variant (synonymous variant +1 more)	NEIL1-related disorder	GLikely benign
Select item 3191345	NM_024608.4(NEIL1):c.1037A>G (p.Gln346Arg)	NEIL1 (Q346R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122570	NM_006715.4(MAN2C1):c.3115C>T (p.Pro1039Ser)	MAN2C1, NEIL1 (P940S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538220	NM_006715.4(MAN2C1):c.3053G>A (p.Arg1018His)	MAN2C1, NEIL1 (R1018H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456711	NM_006715.4(MAN2C1):c.3052C>T (p.Arg1018Cys)	MAN2C1, NEIL1 (R1035C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311324	NM_006715.4(MAN2C1):c.3034T>A (p.Leu1012Met)	MAN2C1, NEIL1 (L913M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1687203	NM_006715.4(MAN2C1):c.2997-1G>T	MAN2C1, NEIL1	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 2219363	NM_006715.4(MAN2C1):c.2908C>T (p.Arg970Cys)	LOC121847958, MAN2C1 +1 more (R987C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283851	NM_006715.4(MAN2C1):c.2866G>A (p.Val956Ile)	LOC121847958, MAN2C1 +1 more (V857I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122569	NM_006715.4(MAN2C1):c.2848G>A (p.Val950Met)	LOC121847958, MAN2C1 +1 more (V927M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122568	NM_006715.4(MAN2C1):c.2809C>T (p.Pro937Ser)	LOC121847958, MAN2C1 +1 more (P954S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122567	NM_006715.4(MAN2C1):c.2752G>A (p.Ala918Thr)	MAN2C1, NEIL1 (A935T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1342929	NM_006715.4(MAN2C1):c.2733_2734del (p.His911fs)	MAN2C1, NEIL1 (H812fs +2 more)	Microsatellite (frameshift variant +2 more)	Congenital disorder of deglycosylation 2	GLikely pathogenic
Select item 2645554	NM_006715.4(MAN2C1):c.2730G>A (p.Pro910=)	MAN2C1, NEIL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1805966	NM_006715.4(MAN2C1):c.2702G>A (p.Arg901His)	MAN2C1, NEIL1 (R802H +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of deglycosylation 2	GUncertain significance
Select item 2521300	NM_006715.4(MAN2C1):c.2701C>T (p.Arg901Cys)	MAN2C1, NEIL1 (R901C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554917	NM_006715.4(MAN2C1):c.2663G>A (p.Arg888Gln)	MAN2C1, NEIL1 (R905Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122566	NM_006715.4(MAN2C1):c.2656C>T (p.Leu886Phe)	MAN2C1, NEIL1 (L886F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1342928	NM_006715.4(MAN2C1):c.2612G>C (p.Cys871Ser)	MAN2C1, NEIL1 (C871S +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of deglycosylation 2	GPathogenic
Select item 2567622	NM_006715.4(MAN2C1):c.2597C>T (p.Ala866Val)	MAN2C1, NEIL1 (A866V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2634552	NM_006715.4(MAN2C1):c.2584G>A (p.Gly862Ser)	MAN2C1, NEIL1 (G763S +2 more)	Single nucleotide variant (missense variant +2 more)	MAN2C1-related disorder	GUncertain significance
Select item 2292447	NM_006715.4(MAN2C1):c.2561G>A (p.Arg854His)	MAN2C1, NEIL1 (R871H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3122563	NM_006715.4(MAN2C1):c.2558A>C (p.His853Pro)	MAN2C1, NEIL1 (H853P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 2685524	GRCh37/hg19 15q24.2(chr15:75601120-76081362)x1	CIMAP1C, COMMD4 +8 more	Copy number loss	not provided	GPathogenic
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2426847	NC_000015.9:g.(?_75628431)_(76054677_?)del	CIMAP1C, COMMD4 +8 more	Deletion	not provided	GUncertain significance
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 997817	Single allele	CIMAP1C, COMMD4 +8 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 980533	GRCh37/hg19 15q24.2(chr15:75440382-76133553)x3	SNX33, GOLGA6C +11 more	Copy number gain	not provided	GUncertain significance
Select item 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 815736	GRCh37/hg19 15q24.2(chr15:75385567-75674401)x3	MAN2C1, COMMD4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687789	GRCh37/hg19 15q24.2(chr15:75508057-76128091)x3	COMMD4, CSPG4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 685759	GRCh37/hg19 15q24.2(chr15:75309345-75930806)x3	C15orf39, COMMD4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564218	GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)x1	SCAMP2, ULK3 +17 more	Copy number loss	not provided	GPathogenic
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560141	Single allele	COMMD4, CSPG4 +8 more	Duplication	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253861	GRCh37/hg19 15q24.2(chr15:75562397-76030552)x3	COMMD4, SNUPN +10 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic

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