NF1[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1549601.	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1 GRCh37: Chr17:27274843-30817038 GRCh38: Chr17:28947825-32490020	ABHD15, ADAP2, ANKRD13B, ATAD5, BLMH, C17orf75, CDK5R1, COPRS, CORO6, CPD, CRLF3, CRYBA1, EFCAB5, EVI2A, EVI2B, GIT1, GOSR1, LOC105371730, LOC106113036, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771182, LOC108771183, LOC108771184, LOC108783647, LOC108783648, LOC108783652, LOC108783653, LOC110121426, LOC110806262, LOC111811965, LOC112529904, LOC112529905, LOC112529906, LOC112529907, LOC113939959, LOC113939960, LOC121587584, LOC121587585, LOC121587586, LOC125177445, LOC125177446, LOC125177447, LOC125177448, LOC125177449, LOC125177450, LOC125177451, LOC125177452, LOC125177453, LOC125177454, LOC125177455, LOC126862527, LOC126862528, LOC126862529, LOC126862530, LOC126862531, LRRC37B, MIR193A, MIR3184, MIR365B, MIR423, MIR4523, MIR4724, MIR4725, MIR4733, MIR632, MYO18A, NF1, NSRP1, NUFIP2, OMG, PHF12, PIPOX, PSMD11, RAB11FIP4, RHBDL3, RHOT1, RNF135, SEZ6, SLC6A4, SSH2, STIN2-VNTR, SUZ12, TAOK1, TBC1D29P, TEFM, TMIGD1, TP53I13, TRT-CGT4-1, UTP6, ZNF207		See cases	Pathogenic (Dec 10, 2012)	no assertion criteria provided
Select item 1537362.	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1 GRCh37: Chr17:28952286-30386515 GRCh38: Chr17:30625268-32059496	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113036, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771183, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177453, LOC125177454, LOC125177455, LOC126862531, LRRC37B, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 26, 2013)	no assertion criteria provided
Select item 581363.	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3 GRCh37: Chr17:28957752-30415399 GRCh38: Chr17:30630734-32088380	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113036, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177453, LOC125177454, LOC125177455, LOC126862531, LRRC37B, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 16785244.	NC_000017.11:g.30660608_31159168inv GRCh38: Chr17:30660608-31159168	ADAP2, ATAD5, CRLF3, LOC108281169, LOC108281170, LOC108771181, LOC108783647, LOC108783652, LOC111811965, LOC121587585, MIR4733, NF1, RNF135, TEFM		Neurofibromatosis, type 1	Pathogenic	no assertion criteria provided
Select item 1532225.	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1 GRCh37: Chr17:28993036-30412788 GRCh38: Chr17:30666018-32085769	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LRRC37B, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 1, 2014)	no assertion criteria provided
Select item 581396.	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3 GRCh37: Chr17:28994990-30350877 GRCh38: Chr17:30667972-32023858	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LRRC37B, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 604607.	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1 GRCh37: Chr17:28999834-30326958 GRCh38: Chr17:30672816-31999939	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1539158.	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3 GRCh37: Chr17:29004621-30398720 GRCh38: Chr17:30677603-32071701	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LRRC37B, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Uncertain significance (Feb 14, 2018)	no assertion criteria provided
Select item 1552119.	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1 GRCh37: Chr17:29005171-30400885 GRCh38: Chr17:30678153-32073866	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LRRC37B, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Mar 11, 2013)	no assertion criteria provided
Select item 15151010.	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1 GRCh37: Chr17:29011937-30348421 GRCh38: Chr17:30684919-32021402	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LRRC37B, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 15027611.	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1 GRCh37: Chr17:29033863-30326952 GRCh38: Chr17:30706845-31999933	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 6046112.	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1 GRCh37: Chr17:29033881-30321643 GRCh38: Chr17:30706863-31994624	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 16087813.	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1 GRCh37: Chr17:29033882-30326958 GRCh38: Chr17:30706864-31999939	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5703114.	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3 GRCh37: Chr17:29033882-30426780 GRCh38: Chr17:30706864-32099761	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771182, LOC108771184, LOC108783647, LOC108783648, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LRRC37B, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 3498915.	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3 GRCh37: Chr17:29033882-30326958 GRCh38: Chr17:30706864-31999939	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Uncertain significance (Feb 14, 2018)	no assertion criteria provided
Select item 6046216.	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1 GRCh37: Chr17:29094212-30264505 GRCh38: Chr17:30767194-31937486	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, MIR193A, MIR365B, MIR4724, MIR4725, MIR4733, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15409017.	GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3 GRCh37: Chr17:29158338-29649192 GRCh38: Chr17:30831320-31322174	ADAP2, ATAD5, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108783647, LOC111811965, MIR4733, NF1, OMG, RNF135, TEFM		See cases	Uncertain significance (Mar 10, 2014)	no assertion criteria provided
Select item 41733818.	NC_000017.10:g.(?_29421945)_(29509683_?)dup GRCh37: Chr17:29421945-29509683 GRCh38: Chr17:31094927-31182665	LOC111811965, LOC108281169, LOC108281170, LOC108281180, NF1		Neurofibromatosis, type 1	Uncertain significance (Oct 1, 2016)	criteria provided, single submitter
Select item 41733619.	NC_000017.11:g.(?_31094927)_(31182665_?)del GRCh37: Chr17:29421945-29509683 GRCh38: Chr17:31094927-31182665	LOC108281180, LOC111811965, LOC108281169, LOC108281170, NF1		Neurofibromatosis, type 1	Pathogenic (Dec 16, 2016)	criteria provided, single submitter
Select item 41733220.	NC_000017.11:g.(?_31094927)_(31095369_?)del GRCh37: Chr17:29421945-29422387 GRCh38: Chr17:31094927-31095369	LOC111811965, NF1		Neurofibromatosis, type 1	Pathogenic (Jan 3, 2017)	criteria provided, single submitter
Select item 25408521.	NM_000267.3(NF1):c.-383_60+?dup443 GRCh37: Chr17:29421945-29422387 GRCh38: Chr17:31094927-31095369	NF1, LOC111811965		Neurofibromatosis, type 1	Uncertain significance (Jan 10, 2017)	criteria provided, single submitter
Select item 23750722.	NM_000267.3(NF1):c.-383_*3522del GRCh37: Chr17:29421945-29704695 GRCh38: Chr17:31094927-31377677	LOC108281170, EVI2A, EVI2B, LOC108281169, LOC108281180, LOC108281181, LOC108281182, LOC111811965, LOC125177454, NF1, OMG		Neurofibromatosis, type 1	Pathogenic (Nov 27, 2019)	criteria provided, single submitter
Select item 89065323.	NM_000267.3(NF1):c.-363T>C GRCh37: Chr17:29421965 GRCh38: Chr17:31094947	LOC111811965, NF1		Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32255324.	NM_001042492.3(NF1):c.-322G>A GRCh37: Chr17:29422006 GRCh38: Chr17:31094988	LOC111811965, NF1		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 138066025.	NM_001042492.3(NF1):c.-280_-264del GRCh37: Chr17:29422039-29422055 GRCh38: Chr17:31095021-31095037	LOC111811965, NF1		Neurofibromatosis, type 1	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 213003726.	NM_001042492.3(NF1):c.-273A>T GRCh37: Chr17:29422055 GRCh38: Chr17:31095037	LOC111811965, NF1		Neurofibromatosis, type 1	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 140473127.	NM_001042492.3(NF1):c.-273A>G GRCh37: Chr17:29422055 GRCh38: Chr17:31095037	LOC111811965, NF1		Neurofibromatosis, type 1	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 137969828.	NM_001042492.3(NF1):c.-272G>C GRCh37: Chr17:29422056 GRCh38: Chr17:31095038	LOC111811965, NF1		Neurofibromatosis, type 1	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 101313029.	NM_001042492.3(NF1):c.-272G>A GRCh37: Chr17:29422056 GRCh38: Chr17:31095038	LOC111811965, NF1		not provided, Neurofibromatosis, type 1	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 89189130.	NM_001042492.3(NF1):c.-265G>C GRCh37: Chr17:29422063 GRCh38: Chr17:31095045	LOC111811965, NF1		Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32255531.	NM_001042492.3(NF1):c.-249_-247dup GRCh37: Chr17:29422076-29422077 GRCh38: Chr17:31095058-31095059	LOC111811965, NF1		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32255432.	NM_001042492.3(NF1):c.-248_-247dup GRCh37: Chr17:29422076-29422077 GRCh38: Chr17:31095058-31095059	NF1, LOC111811965		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 89189233.	NM_001042492.3(NF1):c.-251C>T GRCh37: Chr17:29422077 GRCh38: Chr17:31095059	LOC111811965, NF1		Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32255634.	NM_001042492.3(NF1):c.-242dup GRCh37: Chr17:29422082-29422083 GRCh38: Chr17:31095064-31095065	NF1, LOC111811965		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32255735.	NM_001042492.3(NF1):c.-237dup GRCh37: Chr17:29422087-29422088 GRCh38: Chr17:31095069-31095070	LOC111811965, NF1		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32255836.	NM_001042492.3(NF1):c.-237C>T GRCh37: Chr17:29422091 GRCh38: Chr17:31095073	NF1, LOC111811965		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32255937.	NM_001042492.3(NF1):c.-229C>G GRCh37: Chr17:29422099 GRCh38: Chr17:31095081	LOC111811965, NF1		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32256038.	NM_001042492.3(NF1):c.-209C>A GRCh37: Chr17:29422119 GRCh38: Chr17:31095101	NF1, LOC111811965		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32256139.	NM_001042492.3(NF1):c.-173C>G GRCh37: Chr17:29422155 GRCh38: Chr17:31095137	LOC111811965, NF1		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89070140.	NM_001042492.3(NF1):c.-166T>C GRCh37: Chr17:29422162 GRCh38: Chr17:31095144	LOC111811965, NF1		Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32256241.	NM_001042492.3(NF1):c.-148C>A GRCh37: Chr17:29422180 GRCh38: Chr17:31095162	LOC111811965, NF1		Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32256342.	NM_001042492.3(NF1):c.-115T>C GRCh37: Chr17:29422213 GRCh38: Chr17:31095195	LOC111811965, NF1		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32256443.	NM_001042492.3(NF1):c.-84C>T GRCh37: Chr17:29422244 GRCh38: Chr17:31095226	NF1, LOC111811965		Neurofibromatosis, type 1, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32256544.	NM_001042492.3(NF1):c.-73G>T GRCh37: Chr17:29422255 GRCh38: Chr17:31095237	NF1, LOC111811965		Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal, Café-au-lait macules with pulmonary stenosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88950945.	NM_001042492.3(NF1):c.-51C>T GRCh37: Chr17:29422277 GRCh38: Chr17:31095259	LOC111811965, NF1		Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 50628246.	NM_001042492.2(NF1):c.(?_-50)_(*68_?)del GRCh37: Chr17:29422278-29701241 GRCh38: Chr17:31095260-31374223	LOC108281181, LOC111811965, LOC125177454, LOC108281170, LOC108281180, EVI2A, EVI2B, LOC108281182, LOC108281169, NF1, OMG		Neurofibromatosis, type 1	Pathogenic (Feb 6, 2018)	criteria provided, single submitter
Select item 25727447.	NM_001042492.3(NF1):c.-22G>C GRCh37: Chr17:29422306 GRCh38: Chr17:31095288	NF1, LOC111811965		not specified, not provided, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Neurofibromatosis, type 1	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169232248.	NM_001042492.3(NF1):c.-18C>G GRCh37: Chr17:29422310 GRCh38: Chr17:31095292	LOC111811965, NF1		Hereditary cancer-predisposing syndrome	Likely benign (Oct 27, 2020)	criteria provided, single submitter
Select item 58386049.	NC_000017.11:g.(?_31095300)_(31095379_?)del GRCh37: Chr17:29422318-29422397 GRCh38: Chr17:31095300-31095379	LOC111811965, NF1		Neurofibromatosis, type 1	Pathogenic (Dec 18, 2018)	criteria provided, single submitter
Select item 58377850.	NC_000017.10:g.(?_29422318)_(29422397_?)dup GRCh37: Chr17:29422318-29422397 GRCh38: Chr17:31095300-31095379	LOC111811965, NF1		Neurofibromatosis, type 1	Uncertain significance (Jun 13, 2019)	criteria provided, single submitter
Select item 58365451.	NC_000017.10:g.(?_29422318)_(29701183_?)dup GRCh37: Chr17:29422318-29701183 GRCh38: Chr17:31095300-31374165	EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, LOC125177454, NF1, OMG		Neurofibromatosis, type 1	Uncertain significance (Jul 9, 2019)	criteria provided, single submitter
Select item 58358352.	NC_000017.11:g.(?_31095300)_(31374165_?)del GRCh37: Chr17:29422318-29701183 GRCh38: Chr17:31095300-31374165	OMG, EVI2B, LOC125177454, NF1, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC111811965, EVI2A		Neurofibromatosis, type 1	Pathogenic (Jul 16, 2019)	criteria provided, single submitter
Select item 21997753.	NM_001042492.3(NF1):c.-8G>A GRCh37: Chr17:29422320 GRCh38: Chr17:31095302	LOC111811965, NF1		Neurofibromatosis, type 1	Uncertain significance (Aug 26, 2015)	criteria provided, single submitter
Select item 83221254.	NC_000017.11:g.(?_31095304)_(31374161_?)del GRCh37: Chr17:29422322-29701179 GRCh38: Chr17:31095304-31374161	LOC108281170, EVI2A, EVI2B, LOC108281169, LOC108281180, LOC108281181, LOC108281182, LOC111811965, LOC125177454, NF1, OMG		Neurofibromatosis, type 1	Pathogenic (Nov 6, 2019)	criteria provided, single submitter
Select item 52768255.	NC_000017.10:g.(?_29422322)_(29701179_?)dup GRCh37: Chr17:29422322-29701179 GRCh38: Chr17:31095304-31374161	LOC108281170, EVI2A, EVI2B, LOC108281169, LOC108281180, LOC108281181, LOC108281182, LOC111811965, LOC125177454, NF1, OMG		Neurofibromatosis, type 1	Uncertain significance (Sep 19, 2017)	criteria provided, single submitter
Select item 45749756.	NC_000017.11:g.(?_31095304)_(31156132_?)del GRCh37: Chr17:29422322-29483150 GRCh38: Chr17:31095304-31156132	LOC111811965, NF1, LOC108281169		Neurofibromatosis, type 1	Pathogenic (Oct 10, 2017)	criteria provided, single submitter
Select item 174470757.	NM_001042492.3(NF1):c.-4G>A GRCh37: Chr17:29422324 GRCh38: Chr17:31095306	LOC111811965, NF1		Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 178421858.	NM_001042492.3(NF1):c.-2_3del (p.Met1fs) GRCh37: Chr17:29422325-29422329 GRCh38: Chr17:31095307-31095311	LOC111811965, NF1	M1fs	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 82250359.	NM_001042492.3(NF1):c.-2A>G GRCh37: Chr17:29422326 GRCh38: Chr17:31095308	LOC111811965, NF1		Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 8, 2018)	criteria provided, single submitter
Select item 23175860.	NM_001042492.3(NF1):c.-2A>T GRCh37: Chr17:29422326 GRCh38: Chr17:31095308	LOC111811965, NF1		Hereditary cancer-predisposing syndrome	Uncertain significance (May 8, 2015)	criteria provided, single submitter
Select item 145504561.	NM_001042492.3(NF1):c.1A>T (p.Met1Leu) GRCh37: Chr17:29422328 GRCh38: Chr17:31095310	LOC111811965, NF1	M1L	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1	Pathogenic (Oct 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 69450562.	NM_001042492.3(NF1):c.1A>C (p.Met1Leu) GRCh37: Chr17:29422328 GRCh38: Chr17:31095310	NF1, LOC111811965	M1L	Neurofibromatosis, type 1	Likely pathogenic	criteria provided, single submitter
Select item 40442963.	NM_001042492.3(NF1):c.1A>G (p.Met1Val) GRCh37: Chr17:29422328 GRCh38: Chr17:31095310	NF1, LOC111811965	M1V	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1, not provided	Pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54756264.	NM_001042492.3(NF1):c.2T>A (p.Met1Lys) GRCh37: Chr17:29422329 GRCh38: Chr17:31095311	LOC111811965, NF1	M1K	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1, not provided	Pathogenic/Likely pathogenic (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42663465.	NM_001042492.3(NF1):c.2T>G (p.Met1Arg) GRCh37: Chr17:29422329 GRCh38: Chr17:31095311	LOC111811965, NF1	M1R	not provided, Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype	Pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28005466.	NM_001042492.3(NF1):c.2T>C (p.Met1Thr) GRCh37: Chr17:29422329 GRCh38: Chr17:31095311	LOC111811965, NF1	M1T	not provided, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1	Pathogenic (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82448567.	NM_001042492.3(NF1):c.3G>C (p.Met1Ile) GRCh37: Chr17:29422330 GRCh38: Chr17:31095312	LOC111811965, NF1	M1I	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Pathogenic (Feb 14, 2019)	criteria provided, single submitter
Select item 64784568.	NM_001042492.3(NF1):c.3G>A (p.Met1Ile) GRCh37: Chr17:29422330 GRCh38: Chr17:31095312	LOC111811965, NF1	M1I	Neurofibromatosis, type 1, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Pathogenic (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146382969.	NM_001042492.3(NF1):c.4G>T (p.Ala2Ser) GRCh37: Chr17:29422331 GRCh38: Chr17:31095313	LOC111811965, NF1	A2S	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48020570.	NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe) GRCh37: Chr17:29422331-29422332 GRCh38: Chr17:31095313-31095314	LOC111811965, NF1	A2F	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206344071.	NM_001042492.3(NF1):c.5C>A (p.Ala2Asp) GRCh37: Chr17:29422332 GRCh38: Chr17:31095314	LOC111811965, NF1	A2D	Neurofibromatosis, type 1	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 106853772.	NM_001042492.3(NF1):c.6del (p.Ala3fs) GRCh37: Chr17:29422332 GRCh38: Chr17:31095314	LOC111811965, NF1	A3fs	Neurofibromatosis, type 1	Pathogenic (Oct 11, 2020)	criteria provided, single submitter
Select item 48006973.	NM_001042492.3(NF1):c.5C>T (p.Ala2Val) GRCh37: Chr17:29422332 GRCh38: Chr17:31095314	LOC111811965, NF1	A2V	Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 12, 2016)	criteria provided, single submitter
Select item 114169474.	NM_001042492.3(NF1):c.6C>G (p.Ala2=) GRCh37: Chr17:29422333 GRCh38: Chr17:31095315	LOC111811965, NF1		Neurofibromatosis, type 1, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23300775.	NM_001042492.3(NF1):c.6C>T (p.Ala2=) GRCh37: Chr17:29422333 GRCh38: Chr17:31095315	LOC111811965, NF1		Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1, not provided	Likely benign (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65863676.	NM_001042492.3(NF1):c.7G>A (p.Ala3Thr) GRCh37: Chr17:29422334 GRCh38: Chr17:31095316	LOC111811965, NF1	A3T	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1	Uncertain significance (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176541777.	NM_001042492.3(NF1):c.8C>A (p.Ala3Glu) GRCh37: Chr17:29422335 GRCh38: Chr17:31095317	LOC111811965, NF1	A3E	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 103711578.	NM_001042492.3(NF1):c.8C>G (p.Ala3Gly) GRCh37: Chr17:29422335 GRCh38: Chr17:31095317	LOC111811965, NF1	A3G	Neurofibromatosis, type 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95116179.	NM_001042492.3(NF1):c.8C>T (p.Ala3Val) GRCh37: Chr17:29422335 GRCh38: Chr17:31095317	LOC111811965, NF1	A3V	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis, type 1	Uncertain significance (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 162427180.	NM_001042492.3(NF1):c.9G>A (p.Ala3=) GRCh37: Chr17:29422336 GRCh38: Chr17:31095318	LOC111811965, NF1		Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1	Likely benign (Apr 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107262681.	NM_001042492.3(NF1):c.9del (p.His4fs) GRCh37: Chr17:29422336 GRCh38: Chr17:31095318	LOC111811965, NF1	H4fs	Neurofibromatosis, type 1	Pathogenic (Nov 25, 2020)	criteria provided, single submitter
Select item 208295582.	NM_001042492.3(NF1):c.10del (p.His4fs) GRCh37: Chr17:29422337 GRCh38: Chr17:31095319	NF1, LOC111811965	H4fs	Neurofibromatosis, type 1	Pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 143854383.	NM_001042492.3(NF1):c.10C>T (p.His4Tyr) GRCh37: Chr17:29422337 GRCh38: Chr17:31095319	LOC111811965, NF1	H4Y	Neurofibromatosis, type 1	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 85175284.	NM_001042492.3(NF1):c.10C>A (p.His4Asn) GRCh37: Chr17:29422337 GRCh38: Chr17:31095319	LOC111811965, NF1	H4N	Neurofibromatosis, type 1	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 176935785.	NM_001042492.3(NF1):c.12C>T (p.His4_Arg5=) GRCh37: Chr17:29422339 GRCh38: Chr17:31095321	LOC111811965, NF1		Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Likely benign (Mar 8, 2021)	criteria provided, single submitter
Select item 177175186.	NM_001042492.3(NF1):c.13A>C (p.Arg5_Pro6=) GRCh37: Chr17:29422340 GRCh38: Chr17:31095322	LOC111811965, NF1		Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Likely benign (Nov 4, 2021)	criteria provided, single submitter
Select item 148708187.	NM_001042492.3(NF1):c.13A>G (p.Arg5Gly) GRCh37: Chr17:29422340 GRCh38: Chr17:31095322	LOC111811965, NF1	R5G	Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis, type 1	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 81912088.	NM_001042492.3(NF1):c.13A>T (p.Arg5Trp) GRCh37: Chr17:29422340 GRCh38: Chr17:31095322	LOC111811965, NF1	R5W	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 4, 2019)	criteria provided, single submitter
Select item 36995689.	NM_001042492.3(NF1):c.15del (p.Arg5fs) GRCh37: Chr17:29422341 GRCh38: Chr17:31095323	LOC111811965, NF1	R5fs	Neurofibromatosis, type 1	Pathogenic (Jan 15, 2020)	criteria provided, single submitter
Select item 216958990.	NM_001042492.3(NF1):c.15G>A (p.Arg5_Pro6=) GRCh37: Chr17:29422342 GRCh38: Chr17:31095324	NF1, LOC111811965		Neurofibromatosis, type 1	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 57812391.	NM_001042492.3(NF1):c.15G>T (p.Arg5Ser) GRCh37: Chr17:29422342 GRCh38: Chr17:31095324	LOC111811965, NF1	R5S	Neurofibromatosis, familial spinal, Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Juvenile myelomonocytic leukemia, Neurofibromatosis, type 1	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 61875792.	NM_001042492.3(NF1):c.16C>T (p.Pro6Ser) GRCh37: Chr17:29422343 GRCh38: Chr17:31095325	NF1, LOC111811965	P6S	not provided	Uncertain significance (Apr 18, 2018)	criteria provided, single submitter
Select item 178035493.	NM_001042492.3(NF1):c.17C>A (p.Pro6Gln) GRCh37: Chr17:29422344 GRCh38: Chr17:31095326	LOC111811965, NF1	P6Q	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 19, 2020)	criteria provided, single submitter
Select item 132071094.	NM_001042492.3(NF1):c.17C>G (p.Pro6Arg) GRCh37: Chr17:29422344 GRCh38: Chr17:31095326	NF1, LOC111811965	P6R	not provided, Hereditary cancer-predisposing syndrome, Cardiovascular phenotype, Neurofibromatosis, type 1	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21969195.	NM_001042492.3(NF1):c.17C>T (p.Pro6Leu) GRCh37: Chr17:29422344 GRCh38: Chr17:31095326	LOC111811965, NF1	P6L	Juvenile myelomonocytic leukemia, Neurofibromatosis, familial spinal, Neurofibromatosis, type 1, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis-Noonan syndrome, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 1	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84784396.	NM_001042492.3(NF1):c.19G>A (p.Val7Met) GRCh37: Chr17:29422346 GRCh38: Chr17:31095328	LOC111811965, NF1	V7M	Neurofibromatosis, type 1	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 143488697.	NM_001042492.3(NF1):c.20_23del (p.Val7fs) GRCh37: Chr17:29422347-29422350 GRCh38: Chr17:31095329-31095332	LOC111811965, NF1	V7fs	Neurofibromatosis, type 1	Pathogenic (Feb 16, 2021)	criteria provided, single submitter
Select item 145628798.	NM_001042492.3(NF1):c.23_24insTA (p.Glu8fs) GRCh37: Chr17:29422349-29422350 GRCh38: Chr17:31095331-31095332	LOC111811965, NF1	E8fs	Neurofibromatosis, type 1	Pathogenic (Aug 16, 2021)	criteria provided, single submitter
Select item 179621299.	NM_001042492.3(NF1):c.28_34del (p.Val10fs) GRCh37: Chr17:29422353-29422359 GRCh38: Chr17:31095335-31095341	LOC111811965, NF1	V10fs	Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Pathogenic (Aug 20, 2020)	criteria provided, single submitter
Select item 1034566100.	NM_001042492.3(NF1):c.26G>T (p.Trp9Leu) GRCh37: Chr17:29422353 GRCh38: Chr17:31095335	LOC111811965, NF1	W9L	Neurofibromatosis, type 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter

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