ClinVar for Gene (Select 4974) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374911	NC_000017.10:g.(?_29421944)_(29704696_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 1460273	NC_000017.10:g.(?_29546003)_(29701173_?)del	EVI2B, EVI2A +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1458077	NC_000017.10:g.(?_29496899)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1458070	NC_000017.10:g.(?_29585342)_(29665843_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1454789	NC_000017.10:g.(?_29622128)_(29667673_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1433157	NC_000017.10:g.(?_29527488)_(29703830_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1172820	Single allele	ADAP2, ATAD5 +13 more	Deletion	Cerebral palsy	GPathogenic
Select item 1076036	NC_000017.10:g.(?_29541459)_(29624377_?)del	NF1, OMG	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1073833	NC_000017.10:g.(?_29422322)_(29701178_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072221	NC_000017.10:g.(?_29592237)_(29653280_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072220	NC_000017.10:g.(?_29588709)_(29701193_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072219	NC_000017.10:g.(?_29587625)_(29669475_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072079	NC_000017.10:g.(?_29422322)_(29665163_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1072078	NC_000017.10:g.(?_29422322)_(29664606_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1071967	NC_000017.10:g.(?_29422055)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1070266	NC_000017.10:g.(?_29527428)_(29657848_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1070147	NC_000017.10:g.(?_29587381)_(29662055_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1070146	NC_000017.10:g.(?_29586040)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1070145	NC_000017.10:g.(?_29559081)_(29701173_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1060911	NC_000017.10:g.(?_29422308)_(29701193_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 1041201	NC_000017.10:g.(?_29622128)_(29701173_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 980153	GRCh37/hg19 17q11.2(chr17:29039844-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 929369	GRCh37/hg19 17q11.2(chr17:29393104-30427403)x1	COPRS, EVI2A +8 more	Copy number loss	See cases	GPathogenic
Select item 833518	NC_000017.11:g.(?_31093927)_(31378677_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 833390	NC_000017.11:g.(?_31095030)_(31374155_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 833381	NC_000017.11:g.(?_31248964)_(31352434_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GLikely pathogenic
Select item 833286	NC_000017.11:g.(?_31206230)_(31374165_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 833022	NC_000017.11:g.(?_31155973)_(31297359_?)dup	NF1, OMG	Duplication	Neurofibromatosis, type 1	GPathogenic
Select item 832518	NC_000017.11:g.(?_31203089)_(31352424_?)del	EVI2B, EVI2A +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 832492	NC_000017.11:g.(?_31095030)_(31374155_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 832415	NC_000017.11:g.(?_31248974)_(31352424_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GLikely pathogenic
Select item 832408	NC_000017.11:g.(?_31218985)_(31374175_?)del	EVI2A, EVI2B +2 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 831517	NC_000017.11:g.(?_31225075)_(31360723_?)del	EVI2A, EVI2B +2 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 815924	GRCh37/hg19 17q11.2(chr17:29373189-30412788)x1	NF1, SUZ12 +8 more	Copy number loss	not provided	GPathogenic
Select item 815923	GRCh37/hg19 17q11.2(chr17:29088218-30159137)x1	ADAP2, ATAD5 +9 more	Copy number loss	not provided	GPathogenic
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 736429	NM_002544.5(OMG):c.1110A>C (p.Ser370=)	NF1, OMG	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688115	GRCh37/hg19 17q11.2(chr17:29054315-30391711)x3	ADAP2, ATAD5 +13 more	Copy number gain	not provided	GPathogenic

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