OMG[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 150276	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 34989	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	ADAP2, ATAD5 +65 more	Copy number gain	See cases	GUncertain significance
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 154090	GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3	ADAP2, ATAD5 +29 more	Copy number gain	See cases	GUncertain significance
Select item 237507	NM_000267.3(NF1):c.-383_*3522del	LOC108281181, LOC108281182 +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 360	NC_000017.11:g.(?_31094927)_(31377677_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 506282	NM_001042492.2(NF1):c.(?_-50)_(*68_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 583654	NC_000017.10:g.(?_29422318)_(29701183_?)dup	LOC108281182, LOC111811965 +13 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 583583	NC_000017.11:g.(?_31095300)_(31374165_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 832212	NC_000017.11:g.(?_31095304)_(31374161_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 527682	NC_000017.10:g.(?_29422322)_(29701179_?)dup	LOC108281180, LOC108281181 +13 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 647950	NC_000017.11:g.(?_31155963)_(31374175_?)del	LOC108281170, EVI2B +10 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 457502	NC_000017.11:g.(?_31155977)_(31374161_?)del	EVI2A, EVI2B +10 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 583535	NC_000017.11:g.(?_31169871)_(31343155_?)del	EVI2A, EVI2B +6 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 643145	NC_000017.11:g.(?_31169881)_(31374165_?)del	EVI2A, EVI2B +8 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 457505	NC_000017.11:g.(?_31179106)_(31357039_?)del	EVI2A, EVI2B +7 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 651252	NC_000017.11:g.(?_31218995)_(31374165_?)del	EVI2A, EVI2B +7 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 660684	NC_000017.11:g.(?_31248974)_(31374165_?)del	LOC130060655, LOC130060656 +7 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 242479	NM_000267.3(NF1):c.4110+1791_7394+859dup	EVI2A, EVI2B +5 more	Duplication	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 217112	NM_000267.3(NF1):c.[4110+1791_7394+859dup;4110+1798del]	NF1, EVI2A +5 more	Deletion (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 417327	NC_000017.11:g.(?_31261711)_(31340645_?)del	LOC130060656, EVI2A +5 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 217082	NM_000267.3(NF1):c.4662-397_4773-14262del	LOC130060654, NF1 +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2372755	NM_002544.5(OMG):c.1318G>C (p.Val440Leu)	NF1, OMG (V440L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 445498	NM_002544.5(OMG):c.1304T>C (p.Val435Ala)	OMG, NF1 (V435A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2647633	NM_002544.5(OMG):c.1266G>C (p.Trp422Cys)	NF1, OMG (W422C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3054841	NM_002544.5(OMG):c.1251T>G (p.Ser417=)	NF1, OMG	Single nucleotide variant (synonymous variant +1 more)	OMG-related disorder	GLikely benign
Select item 2616532	NM_002544.5(OMG):c.1238C>T (p.Thr413Ile)	NF1, OMG (T413I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749782	NM_002544.5(OMG):c.1233A>G (p.Val411=)	NF1, OMG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 445481	NM_001042492.3(NF1):c.4835+29771T>C	NF1, OMG (T408A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3204303	NM_002544.5(OMG):c.1196C>T (p.Thr399Ile)	NF1, OMG (T399I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322867	NM_002544.5(OMG):c.1178T>C (p.Met393Thr)	NF1, OMG (M393T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204302	NM_002544.5(OMG):c.1133T>C (p.Met378Thr)	NF1, OMG (M378T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736429	NM_002544.5(OMG):c.1110A>C (p.Ser370=)	NF1, OMG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3302308	NM_002544.5(OMG):c.1076A>G (p.Asp359Gly)	NF1, OMG (D359G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603863	NM_002544.5(OMG):c.1066C>G (p.His356Asp)	NF1, OMG (H356D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457026	NM_002544.5(OMG):c.1037A>G (p.His346Arg)	NF1, OMG (H346R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204301	NM_002544.5(OMG):c.1006G>A (p.Glu336Lys)	NF1, OMG (E336K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343673	NM_002544.5(OMG):c.997C>T (p.Pro333Ser)	NF1, OMG (P333S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302305	NM_002544.5(OMG):c.926C>T (p.Thr309Ile)	NF1, OMG (T309I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302307	NM_002544.5(OMG):c.799T>C (p.Tyr267His)	NF1, OMG (Y267H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302306	NM_002544.5(OMG):c.713T>C (p.Leu238Ser)	NF1, OMG (L238S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204305	NM_002544.5(OMG):c.571A>G (p.Thr191Ala)	NF1, OMG (T191A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3029883	NM_002544.5(OMG):c.516G>A (p.Val172=)	NF1, OMG	Single nucleotide variant (synonymous variant +1 more)	OMG-related disorder	GLikely benign
Select item 2397559	NM_002544.5(OMG):c.445G>A (p.Glu149Lys)	NF1, OMG (E149K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204304	NM_002544.5(OMG):c.349T>G (p.Ser117Ala)	NF1, OMG (S117A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470068	NM_002544.5(OMG):c.312G>A (p.Met104Ile)	NF1, OMG (M104I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612712	NM_002544.5(OMG):c.278T>C (p.Leu93Pro)	NF1, OMG (L93P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581202	NM_001042492.3(NF1):c.4836-29639A>G	NF1, OMG (S51P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055468	NM_002544.5(OMG):c.62G>A (p.Gly21Asp)	NF1, OMG (G21D)	Single nucleotide variant (missense variant +1 more)	OMG-related disorder	GBenign
Select item 2691923	NM_001042492.3(NF1):c.4836-28663G>A	NF1, OMG	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 1692339	NM_001042492.3(NF1):c.4836-28461T>G	NF1, OMG	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign
Select item 3374911	NC_000017.10:g.(?_29421944)_(29704696_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242912	NC_000017.10:g.(?_29585391)_(29760973_?)del	EVI2A, EVI2B +3 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242910	NC_000017.10:g.(?_29559786)_(29644315_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242906	NC_000017.10:g.(?_29556414)_(29622646_?)del	NF1, OMG	Deletion	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3242899	NC_000017.10:g.(?_29496899)_(29701173_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 3242886	NC_000017.10:g.(?_29527428)_(29670163_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242882	NC_000017.10:g.(?_29508420)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242874	NC_000017.10:g.(?_29490184)_(29687741_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242864	NC_000017.10:g.(?_29585352)_(29701183_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242862	NC_000017.10:g.(?_29575992)_(29656858_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242858	NC_000017.10:g.(?_29482991)_(29624377_?)del	NF1, OMG	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242857	NC_000017.10:g.(?_29553433)_(29624377_?)del	NF1, OMG	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242855	NC_000017.10:g.(?_29533238)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242852	NC_000017.10:g.(?_29422055)_(29679452_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3242851	NC_000017.10:g.(?_28524804)_(29624377_?)del	ADAP2, ATAD5 +11 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 3063509	GRCh37/hg19 17q11.2(chr17:29305509-31246638)x3	C17orf75, CDK5R1 +16 more	Copy number gain	not specified	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2671621	Single allele	ADAP2, ATAD5 +13 more	Deletion	not provided	GPathogenic
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422751	NC_000017.10:g.(?_29422055)_(29701173_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 2422742	NC_000017.10:g.(?_29559879)_(29685283_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422739	NC_000017.10:g.(?_29585352)_(29670163_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2422737	NC_000017.10:g.(?_29575982)_(29662069_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2422730	NC_000017.10:g.(?_29527420)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422725	NC_000017.10:g.(?_29622027)_(29654877_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422724	NC_000017.10:g.(?_29592237)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422723	NC_000017.10:g.(?_29585352)_(29670163_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422722	NC_000017.10:g.(?_29575982)_(29665843_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422721	NC_000017.10:g.(?_29562619)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422719	NC_000017.10:g.(?_29556833)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422717	NC_000017.10:g.(?_29541449)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422716	NC_000017.10:g.(?_29422328)_(29677356_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2422715	NC_000017.10:g.(?_29422055)_(29662069_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1710521	GRCh37/hg19 17q11.2(chr17:29076232-30043725)x1	ADAP2, ATAD5 +9 more	Copy number loss	not provided	GPathogenic
Select item 1703547	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +1 more	GPathogenic

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