ClinVar for Gene (Select 2123) - 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 3276664	NM_014210.4(EVI2A):c.382G>A (p.Glu128Lys)	EVI2A, NF1 (E128K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276663	NM_014210.4(EVI2A):c.361T>G (p.Phe121Val)	EVI2A, NF1 (F121V +1 more)	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 3242899	NC_000017.10:g.(?_29496899)_(29701173_?)dup	EVI2A, EVI2B +2 more	Duplication	Neurofibromatosis, type 1	GUncertain significance
Select item 3242890	NC_000017.10:g.(?_29645324)_(29653290_?)dup	EVI2A, NF1	Duplication	Neurofibromatosis, type 1	GLikely pathogenic
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 3242867	NC_000017.10:g.(?_29645324)_(29686053_?)del	EVI2A, NF1	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 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 3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 3090829	NM_014210.4(EVI2A):c.676G>A (p.Gly226Arg)	EVI2A, NF1 (G249R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090828	NM_014210.4(EVI2A):c.239C>G (p.Thr80Arg)	EVI2A, NF1 (T103R +1 more)	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 3044725	NM_014210.4(EVI2A):c.156C>T (p.Gly52=)	EVI2A, NF1	Single nucleotide variant (synonymous variant +1 more)	EVI2A-related disorder	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 2647638	NM_014210.4(EVI2A):c.300C>A (p.Val100=)	EVI2A, LOC130060656 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2605834	NM_014210.4(EVI2A):c.689T>C (p.Leu230Pro)	EVI2A, NF1 (L230P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578786	NM_001042492.3(NF1):c.4836-7365C>T	EVI2A, LOC130060655 +1 more (G187S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2542006	NM_014210.4(EVI2A):c.461T>C (p.Leu154Pro)	EVI2A, NF1 (L177P +1 more)	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 2422726	NC_000017.10:g.(?_29645324)_(29679452_?)del	EVI2A, NF1	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 2407166	NM_014210.4(EVI2A):c.449C>A (p.Thr150Asn)	EVI2A, NF1 (T173N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374765	NM_014210.4(EVI2A):c.398T>C (p.Met133Thr)	EVI2A, NF1 (M133T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374527	NM_014210.4(EVI2A):c.541G>A (p.Gly181Ser)	EVI2A, LOC130060655 +1 more (G181S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348552	NM_014210.4(EVI2A):c.571G>A (p.Ala191Thr)	EVI2A, NF1 (A214T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311228	NM_014210.4(EVI2A):c.596C>T (p.Thr199Ile)	EVI2A, NF1 (T222I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296848	NM_014210.4(EVI2A):c.101G>A (p.Arg34His)	EVI2A, NF1 (R57H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2268006	NM_014210.4(EVI2A):c.626T>G (p.Met209Arg)	EVI2A, NF1 (M232R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255377	NM_014210.4(EVI2A):c.523C>T (p.Arg175Cys)	EVI2A, LOC130060655 +1 more (R175C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237499	NM_014210.4(EVI2A):c.503G>A (p.Arg168Gln)	EVI2A, NF1 (R191Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207682	NM_014210.4(EVI2A):c.634A>G (p.Thr212Ala)	EVI2A, NF1 (T212A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2137990	NM_001042492.3(NF1):c.5268+5G>T	EVI2A, NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1742983	NM_001042492.3(NF1):c.4836-7135A>G	EVI2A, NF1 (I133T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GBenign
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 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 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 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 803363	NM_001042492.3(NF1):c.4836-7203TGT[3]	EVI2A, NF1 (N132del +1 more)	Microsatellite (inframe_deletion +1 more)	Neurofibromatosis, type 1	GLikely benign
Select item 688115	GRCh37/hg19 17q11.2(chr17:29054315-30391711)x3	ADAP2, ATAD5 +13 more	Copy number gain	not provided	GPathogenic
Select item 687019	GRCh37/hg19 17q11.2(chr17:29054315-30409336)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685655	GRCh37/hg19 17q11.2(chr17:28999903-30409337)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 666441	GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1	ADAP2, ATAD5 +12 more	Copy number loss	Chromosome 17q11.2 deletion syndrome, 1.4Mb	GPathogenic
Select item 660684	NC_000017.11:g.(?_31248974)_(31374165_?)del	LOC130060655, LOC130060656 +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 647950	NC_000017.11:g.(?_31155963)_(31374175_?)del	LOC108281170, EVI2B +10 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

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