ClinVar for MedGen (Select 18013) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24442741.	NM_001042492.3(NF1):c.4225dup (p.Met1409fs) GRCh37: Chr17:29585412-29585413 GRCh38: Chr17:31258394-31258395	NF1	M1388fs, M1409fs	Neurofibromatosis, type 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24440382.	NM_001042492.3(NF1):c.3676del (p.Ala1226fs) GRCh37: Chr17:29560198 GRCh38: Chr17:31233180	NF1	A1226fs	Neurofibromatosis, type 1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24440173.	NM_001042492.3(NF1):c.1953_1969del (p.Arg652fs) GRCh37: Chr17:29552218-29552234 GRCh38: Chr17:31225200-31225216	NF1	R652fs	Neurofibromatosis, type 1	Pathogenic (Mar 17, 2023)	criteria provided, single submitter
Select item 24433044.	NM_001042492.3(NF1):c.5204_5205del (p.Glu1735fs) GRCh37: Chr17:29653204-29653205 GRCh38: Chr17:31326186-31326187	NF1	E1714fs, E1735fs	Neurofibromatosis, type 1	Pathogenic	no assertion criteria provided
Select item 24433025.	NM_001042492.3(NF1):c.616A>T (p.Lys206Ter) GRCh37: Chr17:29508469 GRCh38: Chr17:31181451	NF1	K206*	Neurofibromatosis, type 1	Pathogenic	no assertion criteria provided
Select item 24317316.	NC_000017.11:g.(31324267_31327162)del	NF1		Neurofibromatosis, type 1	Pathogenic (Dec 10, 2022)	criteria provided, single submitter
Select item 24315077.	NM_024496.4(IRF2BPL):c.709dup (p.Thr237fs) GRCh37: Chr14:77493426-77493427 GRCh38: Chr14:77027083-77027084	IRF2BPL	T237fs	Neurofibromatosis, type 1	Likely pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 24297468.	NM_001042492.3(NF1):c.7372A>T (p.Arg2458Ter) GRCh37: Chr17:29677251 GRCh38: Chr17:31350233	NF1	R2437, R2458	Neurofibromatosis, type 1	Pathogenic (Feb 16, 2023)	criteria provided, single submitter
Select item 24227529.	NC_000017.10:g.(?_29475515)_(29542762_?)dup GRCh37: Chr17:29475515-29542762	NF1		Neurofibromatosis, type 1	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 242275110.	NC_000017.10:g.(?_29422055)_(29701173_?)dup GRCh37: Chr17:29422055-29701173	OMG, EVI2A, NF1, EVI2B		Neurofibromatosis, type 1	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 242275011.	NC_000017.10:g.(?_29527428)_(29592367_?)del GRCh37: Chr17:29527428-29592367	NF1		Neurofibromatosis, type 1	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 242274912.	NC_000017.10:g.(?_29508420)_(29592377_?)del GRCh37: Chr17:29508420-29592377	NF1		Neurofibromatosis, type 1	Pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 242274813.	NC_000017.10:g.(?_29585352)_(29592367_?)del GRCh37: Chr17:29585352-29592367	NF1		Neurofibromatosis, type 1	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 242274714.	NC_000017.10:g.(?_29575982)_(29587553_?)del GRCh37: Chr17:29575982-29587553	NF1		Neurofibromatosis, type 1	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 242274615.	NC_000017.10:g.(?_29422055)_(29497035_?)del GRCh37: Chr17:29422055-29497035	NF1		Neurofibromatosis, type 1	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 242274516.	NC_000017.10:g.(?_29548858)_(29549489_?)del GRCh37: Chr17:29548858-29549489	NF1		Neurofibromatosis, type 1	Pathogenic (Nov 25, 2021)	criteria provided, single submitter
Select item 242274417.	NC_000017.10:g.(?_29422055)_(29422407_?)del GRCh37: Chr17:29422055-29422407	NF1		Neurofibromatosis, type 1	Pathogenic (Jul 9, 2022)	criteria provided, single submitter
Select item 242274318.	NC_000017.10:g.(?_29654575)_(29667842_?)del GRCh37: Chr17:29654575-29667842	NF1		Neurofibromatosis, type 1	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 242274219.	NC_000017.10:g.(?_29559879)_(29685283_?)del GRCh37: Chr17:29559879-29685283	EVI2A, EVI2B, OMG, NF1		Neurofibromatosis, type 1	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 242274120.	NC_000017.10:g.(?_29508426)_(29510472_?)dup GRCh37: Chr17:29508426-29510472	NF1		Neurofibromatosis, type 1	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 242274021.	NC_000017.10:g.(?_29652818)_(29664918_?)dup GRCh37: Chr17:29652818-29664918	NF1		Neurofibromatosis, type 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 242273922.	NC_000017.10:g.(?_29585352)_(29670163_?)dup GRCh37: Chr17:29585352-29670163	EVI2A, EVI2B, OMG, NF1		Neurofibromatosis, type 1	Likely pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 242273823.	NC_000017.10:g.(?_29585352)_(29588885_?)dup GRCh37: Chr17:29585352-29588885	NF1		Neurofibromatosis, type 1	Likely pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 242273724.	NC_000017.10:g.(?_29575982)_(29662069_?)dup GRCh37: Chr17:29575982-29662069	OMG, EVI2A, EVI2B, NF1		Neurofibromatosis, type 1	Likely pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 242273625.	NC_000017.10:g.(?_29556023)_(29563059_?)dup GRCh37: Chr17:29556023-29563059	NF1		Neurofibromatosis, type 1	Likely pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 242273526.	NC_000017.10:g.(?_29475515)_(29490414_?)dup GRCh37: Chr17:29475515-29490414	NF1		Neurofibromatosis, type 1	Likely pathogenic (Dec 19, 2021)	criteria provided, single submitter
Select item 242273427.	NC_000017.10:g.(?_29541449)_(29557963_?)dup GRCh37: Chr17:29541449-29557963	NF1		Neurofibromatosis, type 1	Likely pathogenic (Jun 2, 2022)	criteria provided, single submitter
Select item 242273328.	NC_000017.10:g.(?_29422055)_(29552288_?)dup GRCh37: Chr17:29422055-29552288	NF1		Neurofibromatosis, type 1	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 242273229.	NC_000017.10:g.(?_29422055)_(29533409_?)dup GRCh37: Chr17:29422055-29533409	NF1		Neurofibromatosis, type 1	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 242273130.	NC_000017.10:g.(?_29540877)_(29542762_?)dup GRCh37: Chr17:29540877-29542762	NF1		Neurofibromatosis, type 1	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 242273031.	NC_000017.10:g.(?_29527420)_(29701173_?)del GRCh37: Chr17:29527420-29701173	NF1, EVI2B, EVI2A, OMG		Neurofibromatosis, type 1	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 242272932.	NC_000017.10:g.(?_29676118)_(29687741_?)del GRCh37: Chr17:29676118-29687741	NF1		Neurofibromatosis, type 1	Pathogenic (May 24, 2022)	criteria provided, single submitter
Select item 242272833.	NC_000017.10:g.(?_29663341)_(29679442_?)del GRCh37: Chr17:29663341-29679442	NF1		Neurofibromatosis, type 1	Pathogenic (Sep 17, 2022)	criteria provided, single submitter
Select item 242272734.	NC_000017.10:g.(?_29663341)_(29665833_?)del GRCh37: Chr17:29663341-29665833	NF1		Neurofibromatosis, type 1	Likely pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 242272635.	NC_000017.10:g.(?_29645324)_(29679452_?)del GRCh37: Chr17:29645324-29679452	EVI2A, NF1		Neurofibromatosis, type 1	Pathogenic (Jun 6, 2022)	criteria provided, single submitter
Select item 242272536.	NC_000017.10:g.(?_29622027)_(29654877_?)del GRCh37: Chr17:29622027-29654877	OMG, NF1, EVI2B, EVI2A		Neurofibromatosis, type 1	Pathogenic (Nov 25, 2021)	criteria provided, single submitter
Select item 242272437.	NC_000017.10:g.(?_29592237)_(29701173_?)del GRCh37: Chr17:29592237-29701173	NF1, OMG, EVI2A, EVI2B		Neurofibromatosis, type 1	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 242272338.	NC_000017.10:g.(?_29585352)_(29670163_?)del GRCh37: Chr17:29585352-29670163	NF1, EVI2B, OMG, EVI2A		Neurofibromatosis, type 1	Pathogenic (Nov 8, 2021)	criteria provided, single submitter
Select item 242272239.	NC_000017.10:g.(?_29575982)_(29665843_?)del GRCh37: Chr17:29575982-29665843	EVI2A, EVI2B, OMG, NF1		Neurofibromatosis, type 1	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 242272140.	NC_000017.10:g.(?_29562619)_(29701173_?)del GRCh37: Chr17:29562619-29701173	EVI2B, OMG, EVI2A, NF1		Neurofibromatosis, type 1	Pathogenic (Dec 25, 2021)	criteria provided, single submitter
Select item 242272041.	NC_000017.10:g.(?_29557258)_(29563059_?)del GRCh37: Chr17:29557258-29563059	NF1		Neurofibromatosis, type 1	Pathogenic (May 23, 2022)	criteria provided, single submitter
Select item 242271942.	NC_000017.10:g.(?_29556833)_(29701173_?)del GRCh37: Chr17:29556833-29701173	EVI2A, EVI2B, OMG, NF1		Neurofibromatosis, type 1	Pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 242271843.	NC_000017.10:g.(?_29482981)_(29486131_?)del GRCh37: Chr17:29482981-29486131	NF1		Neurofibromatosis, type 1	Pathogenic (Dec 20, 2021)	criteria provided, single submitter
Select item 242271744.	NC_000017.10:g.(?_29541449)_(29701173_?)del GRCh37: Chr17:29541449-29701173	EVI2B, EVI2A, NF1, OMG		Neurofibromatosis, type 1	Pathogenic (Oct 29, 2022)	criteria provided, single submitter
Select item 242271645.	NC_000017.10:g.(?_29422328)_(29677356_?)del GRCh37: Chr17:29422328-29677356	NF1, EVI2A, EVI2B, OMG		Neurofibromatosis, type 1	Pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 242271546.	NC_000017.10:g.(?_29422055)_(29662069_?)del GRCh37: Chr17:29422055-29662069	EVI2B, OMG, EVI2A, NF1		Neurofibromatosis, type 1	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 242271447.	NC_000017.10:g.(?_27573882)_(29576157_?)del GRCh37: Chr17:27573882-29576157	TEFM, EFCAB5, CRYBA1, GOSR1, TP53I13, ADAP2, SLC6A4, ATAD5, BLMH, CPD, GIT1, ABHD15, SSH2, TBC1D29P, ANKRD13B, RNF135, CRLF3, TAOK1, NF1, NSRP1, CORO6, TMIGD1, NUFIP2		Neurofibromatosis, type 1	Pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 242271348.	NC_000017.10:g.(?_29422055)_(29533409_?)del GRCh37: Chr17:29422055-29533409	NF1		Neurofibromatosis, type 1	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 242271249.	NC_000017.10:g.(?_29527420)_(29527633_?)del GRCh37: Chr17:29527420-29527633	NF1		Neurofibromatosis, type 1	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 242271150.	NC_000017.10:g.(?_29486008)_(29486131_?)del GRCh37: Chr17:29486008-29486131	NF1		Neurofibromatosis, type 1	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 242113351.	NM_001042492.3(NF1):c.2991-20T>A GRCh37: Chr17:29557258 GRCh38: Chr17:31230240	NF1		Neurofibromatosis, type 1	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 241912352.	NM_001042492.3(NF1):c.6435del (p.Lys2146fs) GRCh37: Chr17:29664392 GRCh38: Chr17:31337374	NF1	K2125fs, K2146fs	Neurofibromatosis, type 1	Pathogenic (May 1, 2022)	criteria provided, single submitter
Select item 241912153.	NM_001042492.3(NF1):c.2350T>G (p.Trp784Gly) GRCh37: Chr17:29554565 GRCh38: Chr17:31227547	NF1	W784G	Neurofibromatosis, type 1	Likely pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 241911954.	NM_001042492.3(NF1):c.1442del (p.Pro481fs) GRCh37: Chr17:29541517 GRCh38: Chr17:31214499	NF1	P481fs	Neurofibromatosis, type 1	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 241885055.	NM_001042492.3(NF1):c.6928C>G (p.Pro2310Ala) GRCh37: Chr17:29667529 GRCh38: Chr17:31340511	NF1	P2289A, P2310A	Neurofibromatosis, type 1	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 241801356.	NM_001042492.3(NF1):c.8039C>T (p.Pro2680Leu) GRCh37: Chr17:29685566 GRCh38: Chr17:31358548	NF1	P2659L, P2680L	Neurofibromatosis, type 1	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 241502757.	NM_001042492.3(NF1):c.3701C>T (p.Ser1234Phe) GRCh37: Chr17:29560224 GRCh38: Chr17:31233206	NF1	S1234F	Neurofibromatosis, type 1	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 241319158.	GRCh38/hg38 17q11.2(chr17:31155962-31163396)x1 GRCh38: Chr17:31155962-31163396	LOC108281170, LOC108281180, NF1		Neurofibromatosis, type 1	Pathogenic (Feb 3, 2023)	criteria provided, single submitter
Select item 241316559.	NM_001042492.3(NF1):c.1641+2_1641+3del GRCh37: Chr17:29546138-29546139 GRCh38: Chr17:31219120-31219121	NF1		Neurofibromatosis, type 1	Likely pathogenic (Feb 2, 2023)	criteria provided, single submitter
Select item 241316360.	NM_001042492.3(NF1):c.5813-177A>C GRCh37: Chr17:29661679 GRCh38: Chr17:31334661	NF1		Neurofibromatosis, type 1	Likely pathogenic (Feb 2, 2023)	criteria provided, single submitter
Select item 220072561.	NM_001042492.3(NF1):c.3937G>C (p.Asp1313His) GRCh37: Chr17:29563002 GRCh38: Chr17:31235984	NF1	D1313H	Neurofibromatosis, type 1	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 219758062.	NM_001042492.3(NF1):c.5024C>T (p.Ser1675Phe) GRCh37: Chr17:29653026 GRCh38: Chr17:31326008	NF1	S1654F, S1675F	Neurofibromatosis, type 1	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 219672063.	NM_001042492.3(NF1):c.4944C>A (p.Thr1648_Gly1649=) GRCh37: Chr17:29652946 GRCh38: Chr17:31325928	NF1		Neurofibromatosis, type 1	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 219584664.	NM_001042492.3(NF1):c.740A>T (p.Glu247Val) GRCh37: Chr17:29509535 GRCh38: Chr17:31182517	NF1	E247V	Neurofibromatosis, type 1	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 219574465.	NM_001042492.3(NF1):c.7457+18C>A GRCh37: Chr17:29677354 GRCh38: Chr17:31350336	NF1		Neurofibromatosis, type 1	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 219567966.	NM_001042492.3(NF1):c.3315-19C>T GRCh37: Chr17:29559699 GRCh38: Chr17:31232681	NF1		Neurofibromatosis, type 1	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 219535767.	NM_001042492.3(NF1):c.2753A>G (p.Lys918Arg) GRCh37: Chr17:29556386 GRCh38: Chr17:31229368	NF1	K918R	Neurofibromatosis, type 1	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 219371068.	NM_001042492.3(NF1):c.4578-9T>C GRCh37: Chr17:29588720 GRCh38: Chr17:31261702	NF1		Neurofibromatosis, type 1	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 219307269.	NM_001042492.3(NF1):c.4724+20T>C GRCh37: Chr17:29588895 GRCh38: Chr17:31261877	NF1		Neurofibromatosis, type 1	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 219307070.	NM_001042492.3(NF1):c.6282T>C (p.Leu2094_Asp2095=) GRCh37: Chr17:29663787 GRCh38: Chr17:31336769	NF1		Neurofibromatosis, type 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 219175971.	NM_001042492.3(NF1):c.1390C>T (p.Pro464Ser) GRCh37: Chr17:29533387 GRCh38: Chr17:31206369	NF1	P464S	Neurofibromatosis, type 1	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 219024972.	NM_001042492.3(NF1):c.7189+20A>C GRCh37: Chr17:29670173 GRCh38: Chr17:31343155	NF1		Neurofibromatosis, type 1	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 218722973.	NM_001042492.3(NF1):c.4431-13dup GRCh37: Chr17:29587371-29587372 GRCh38: Chr17:31260353-31260354	NF1		Neurofibromatosis, type 1	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 218697374.	NM_001042492.3(NF1):c.2955A>G (p.Gln985_Ala986=) GRCh37: Chr17:29556957 GRCh38: Chr17:31229939	NF1		Neurofibromatosis, type 1	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 218593075.	NM_001042492.3(NF1):c.7869+15T>C GRCh37: Chr17:29684123 GRCh38: Chr17:31357105	NF1		Neurofibromatosis, type 1	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 218505376.	NM_001042492.3(NF1):c.4313G>A (p.Gly1438Asp) GRCh37: Chr17:29585501 GRCh38: Chr17:31258483	NF1	G1438D, G1417D	Neurofibromatosis, type 1	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 218497277.	NM_001042492.3(NF1):c.5812+14A>C GRCh37: Chr17:29657530 GRCh38: Chr17:31330512	NF1		Neurofibromatosis, type 1	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 218449278.	NM_001042492.3(NF1):c.889-18T>G GRCh37: Chr17:29527422 GRCh38: Chr17:31200404	NF1		Neurofibromatosis, type 1	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 218402579.	NM_001042492.3(NF1):c.1905T>C (p.Pro635_Ser636=) GRCh37: Chr17:29552172 GRCh38: Chr17:31225154	NF1		Neurofibromatosis, type 1	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 218370680.	NM_001042492.3(NF1):c.5483G>C (p.Arg1828Pro) GRCh37: Chr17:29654731 GRCh38: Chr17:31327713	NF1	R1807P, R1828P	Neurofibromatosis, type 1	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 218368381.	NM_001042492.3(NF1):c.6643-18G>C GRCh37: Chr17:29664819 GRCh38: Chr17:31337801	NF1		Neurofibromatosis, type 1	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 218309282.	NM_001042492.3(NF1):c.731-17del GRCh37: Chr17:29509508 GRCh38: Chr17:31182490	NF1		Neurofibromatosis, type 1	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 218242483.	NM_001042492.3(NF1):c.3627G>A (p.Val1209_Glu1210=) GRCh37: Chr17:29560150 GRCh38: Chr17:31233132	NF1		Neurofibromatosis, type 1	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 218144384.	NM_001042492.3(NF1):c.4765A>C (p.Thr1589Pro) GRCh37: Chr17:29592287 GRCh38: Chr17:31265269	NF1	T1568P, T1589P	Neurofibromatosis, type 1	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 218119385.	NM_001042492.3(NF1):c.6922-5G>T GRCh37: Chr17:29667518 GRCh38: Chr17:31340500	NF1		Neurofibromatosis, type 1	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 217993686.	NM_001042492.3(NF1):c.3830G>A (p.Gly1277Asp) GRCh37: Chr17:29562750 GRCh38: Chr17:31235732	NF1	G1277D	Neurofibromatosis, type 1	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 217836687.	NM_001042492.3(NF1):c.8465A>T (p.Gln2822Leu) GRCh37: Chr17:29701118 GRCh38: Chr17:31374100	NF1	Q2801L, Q2822L	Neurofibromatosis, type 1	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 217773088.	NM_001042492.3(NF1):c.2326-11C>T GRCh37: Chr17:29554530 GRCh38: Chr17:31227512	NF1		Neurofibromatosis, type 1	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 217733089.	NM_001042492.3(NF1):c.1601C>G (p.Pro534Arg) GRCh37: Chr17:29546096 GRCh38: Chr17:31219078	NF1	P534R	Neurofibromatosis, type 1	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 217681990.	NM_001042492.3(NF1):c.8276C>T (p.Thr2759Ile) GRCh37: Chr17:29687620 GRCh38: Chr17:31360602	NF1	T2738I, T2759I	Neurofibromatosis, type 1	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 217636291.	NM_001042492.3(NF1):c.7421A>T (p.Asp2474Val) GRCh37: Chr17:29677300 GRCh38: Chr17:31350282	NF1	D2453V, D2474V	Neurofibromatosis, type 1	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 217508292.	NM_001042492.3(NF1):c.5812+13A>G GRCh37: Chr17:29657529 GRCh38: Chr17:31330511	NF1		Neurofibromatosis, type 1	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 217418193.	NM_001042492.3(NF1):c.6819+12_6819+15del GRCh37: Chr17:29665167-29665170 GRCh38: Chr17:31338149-31338152	NF1		Neurofibromatosis, type 1	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 217403094.	NM_001042492.3(NF1):c.4422A>G (p.Ala1474_Ala1475=) GRCh37: Chr17:29586139 GRCh38: Chr17:31259121	NF1		Neurofibromatosis, type 1	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 217347195.	NM_001042492.3(NF1):c.7167A>G (p.Ala2389_Leu2390=) GRCh37: Chr17:29670131 GRCh38: Chr17:31343113	NF1		Neurofibromatosis, type 1	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 217328896.	NM_001042492.3(NF1):c.7971-10T>C GRCh37: Chr17:29685488 GRCh38: Chr17:31358470	NF1		Neurofibromatosis, type 1	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 217296297.	NM_001042492.3(NF1):c.45C>T (p.Ser15_Arg16=) GRCh37: Chr17:29422372 GRCh38: Chr17:31095354	NF1, LOC111811965		Neurofibromatosis, type 1	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 217269998.	NM_001042492.3(NF1):c.1559G>A (p.Gly520Asp) GRCh37: Chr17:29546054 GRCh38: Chr17:31219036	NF1	G520D	Neurofibromatosis, type 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 217191799.	NM_001042492.3(NF1):c.6020T>C (p.Leu2007Pro) GRCh37: Chr17:29663364 GRCh38: Chr17:31336346	NF1	L1986P, L2007P	Neurofibromatosis, type 1	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 2171906100.	NM_001042492.3(NF1):c.1721+21del GRCh37: Chr17:29548963 GRCh38: Chr17:31221945	NF1		Neurofibromatosis, type 1	Benign (Sep 29, 2022)	criteria provided, single submitter

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