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 25791301.	NM_001042492.3(NF1):c.1890del (p.Gly631fs) GRCh37: Chr17:29552157 GRCh38: Chr17:31225139	NF1	G631fs	Neurofibromatosis, type 1	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 25791202.	NM_001042492.3(NF1):c.1473T>A (p.Tyr491Ter) GRCh37: Chr17:29541549 GRCh38: Chr17:31214531	NF1	Y491*	Neurofibromatosis, type 1	Pathogenic (Sep 12, 2023)	criteria provided, single submitter
Select item 25774353.	NM_001042492.3(NF1):c.456_459del (p.Val153fs) GRCh37: Chr17:29490370-29490373 GRCh38: Chr17:31163352-31163355	NF1	V153fs	Neurofibromatosis, type 1	Pathogenic (Apr 26, 2023)	no assertion criteria provided
Select item 25772544.	NM_001042492.3(NF1):c.154dup (p.Ser52fs) GRCh37: Chr17:29483090-29483091 GRCh38: Chr17:31156072-31156073	NF1	S52fs	Neurofibromatosis, type 1	Pathogenic (Jul 13, 2023)	criteria provided, single submitter
Select item 25731995.	NM_001042492.3(NF1):c.430dup (p.Ser144fs) GRCh37: Chr17:29490341-29490342 GRCh38: Chr17:31163323-31163324	NF1	S144fs	Neurofibromatosis, type 1	Likely pathogenic (Jul 21, 2023)	criteria provided, single submitter
Select item 25731986.	NM_001042492.3(NF1):c.5059_5060del (p.Arg1687fs) GRCh37: Chr17:29653061-29653062 GRCh38: Chr17:31326043-31326044	NF1	R1666fs, R1687fs	Neurofibromatosis, type 1	Likely pathogenic (Jul 21, 2023)	criteria provided, single submitter
Select item 25731977.	NM_001042492.3(NF1):c.4836-2A>G GRCh37: Chr17:29652836 GRCh38: Chr17:31325818	NF1		Neurofibromatosis, type 1	Likely pathogenic (Jul 21, 2023)	criteria provided, single submitter
Select item 25731488.	NM_001042492.3(NF1):c.6354del (p.Arg2119fs) GRCh37: Chr17:29663858 GRCh38: Chr17:31336840	NF1	R2098fs, R2119fs	Neurofibromatosis, type 1	Pathogenic (Jul 21, 2023)	criteria provided, single submitter
Select item 25731479.	NM_001042492.3(NF1):c.7744C>T (p.Gln2582Ter) GRCh37: Chr17:29683983 GRCh38: Chr17:31356965	NF1	Q2561, Q2582	Neurofibromatosis, type 1	Likely pathogenic (Jul 21, 2023)	criteria provided, single submitter
Select item 257310210.	NM_001042492.3(NF1):c.5410delinsTT (p.Ala1804fs) GRCh37: Chr17:29654658 GRCh38: Chr17:31327640	NF1	A1783fs, A1804fs	Neurofibromatosis, type 1	Likely pathogenic (Jul 18, 2023)	criteria provided, single submitter
Select item 257297011.	NM_001042492.3(NF1):c.5046_5047insG (p.Asn1683fs) GRCh37: Chr17:29653048-29653049 GRCh38: Chr17:31326030-31326031	NF1	N1662fs, N1683fs	Neurofibromatosis, type 1	Pathogenic (Jul 19, 2023)	criteria provided, single submitter
Select item 257239412.	NM_001042492.3(NF1):c.4431-1G>C GRCh37: Chr17:29587386 GRCh38: Chr17:31260368	NF1		Neurofibromatosis, type 1	Pathogenic	criteria provided, single submitter
Select item 257205413.	NM_001042492.3(NF1):c.1485_1488dup (p.Val497fs) GRCh37: Chr17:29541560-29541561 GRCh38: Chr17:31214542-31214543	NF1	V497fs	Neurofibromatosis, type 1	Pathogenic (Jul 13, 2023)	criteria provided, single submitter
Select item 257204914.	NM_001042492.3(NF1):c.512del (p.Asn171fs) GRCh37: Chr17:29496940 GRCh38: Chr17:31169922	NF1	N171fs	Neurofibromatosis, type 1	Pathogenic (Jul 13, 2023)	criteria provided, single submitter
Select item 250739315.	NM_001042492.3(NF1):c.1457del (p.Thr486fs) GRCh37: Chr17:29541533 GRCh38: Chr17:31214515	NF1	T486fs	Neurofibromatosis, type 1	Pathogenic	criteria provided, single submitter
Select item 250558216.	NM_001042492.3(NF1):c.1404del (p.Phe468fs) GRCh37: Chr17:29541478 GRCh38: Chr17:31214460	NF1	F468fs	Neurofibromatosis, type 1	Pathogenic (Jun 21, 2023)	criteria provided, single submitter
Select item 250555617.	NM_001042492.3(NF1):c.7165G>T (p.Ala2389Ser) GRCh37: Chr17:29670129 GRCh38: Chr17:31343111	NF1	A2368S, A2389S	Neurofibromatosis, type 1	Likely benign	criteria provided, single submitter
Select item 250391018.	NM_001042492.3(NF1):c.4910del (p.Lys1637fs) GRCh37: Chr17:29652910 GRCh38: Chr17:31325892	NF1	K1616fs, K1637fs	Neurofibromatosis, type 1	Likely pathogenic (Apr 15, 2023)	criteria provided, single submitter
Select item 250351819.	NM_001042492.3(NF1):c.295A>C (p.Lys99Gln) GRCh37: Chr17:29490210 GRCh38: Chr17:31163192	NF1	K99Q	Neurofibromatosis, type 1	Uncertain significance (Apr 14, 2023)	criteria provided, single submitter
Select item 250350420.	NM_001042492.3(NF1):c.6777del (p.Ser2260fs) GRCh37: Chr17:29665115 GRCh38: Chr17:31338097	NF1	S2239fs, S2260fs	Neurofibromatosis, type 1	Pathogenic (May 8, 2023)	criteria provided, single submitter
Select item 250347721.	NM_001042492.3(NF1):c.2322dup (p.Glu775Ter) GRCh37: Chr17:29554305-29554306 GRCh38: Chr17:31227287-31227288	NF1	E775*	Neurofibromatosis, type 1	Pathogenic	criteria provided, single submitter
Select item 250236922.	NM_001470.4(GABBR1):c.1042G>C (p.Ala348Pro) GRCh37: Chr6:29589904 GRCh38: Chr6:29622127	GABBR1	A171P, A231P, A286P, A348P	Neurofibromatosis, type 1	Likely pathogenic (May 15, 2023)	criteria provided, single submitter
Select item 250106223.	NM_001042492.3(NF1):c.2099del (p.Thr700fs) GRCh37: Chr17:29553550 GRCh38: Chr17:31226532	NF1	T700fs	Neurofibromatosis, type 1	Likely pathogenic (Mar 23, 2023)	criteria provided, single submitter
Select item 250035424.	NM_001042492.3(NF1):c.2066del (p.Val689fs) GRCh37: Chr17:29553517 GRCh38: Chr17:31226499	NF1	V689fs	Neurofibromatosis, type 1	Likely pathogenic (Mar 7, 2023)	criteria provided, single submitter
Select item 250030125.	NM_001042492.3(NF1):c.1260+6T>A GRCh37: Chr17:29528509 GRCh38: Chr17:31201491	NF1		Neurofibromatosis, type 1	Uncertain significance (Jul 13, 2023)	criteria provided, single submitter
Select item 245225926.	NM_001042492.3(NF1):c.1152dup (p.Arg385fs) GRCh37: Chr17:29528141-29528142 GRCh38: Chr17:31201123-31201124	NF1	R385fs	Neurofibromatosis, type 1, Cardiovascular phenotype, Hereditary cancer-predisposing syndrome	Pathogenic (Jun 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 244427427.	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 244403828.	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 244401729.	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 244330430.	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 244330231.	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 243173132.	NC_000017.11:g.(31324267_31327162)del	NF1		Neurofibromatosis, type 1	Pathogenic (Dec 10, 2022)	criteria provided, single submitter
Select item 243163033.	NC_000017.11:g.(31082496_31133240)dup	NF1		Neurofibromatosis, type 1	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 242974634.	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 242275235.	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 242275136.	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 242275037.	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 242274938.	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 242274839.	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 242274740.	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 242274641.	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 242274542.	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 242274443.	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 242274344.	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 242274245.	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 242274146.	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 242274047.	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 242273948.	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 242273849.	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 242273750.	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 242273651.	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 242273552.	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 242273453.	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 242273354.	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 242273255.	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 242273156.	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 242273057.	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 242272958.	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 242272859.	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 242272760.	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 242272661.	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 242272562.	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 242272463.	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 242272364.	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 242272265.	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 242272166.	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 242272067.	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 242271968.	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 242271869.	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 242271770.	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 242271671.	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 242271572.	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 242271473.	NC_000017.10:g.(?_27573882)_(29576157_?)del GRCh37: Chr17:27573882-29576157	ABHD15, ADAP2, ANKRD13B, ATAD5, BLMH, CORO6, CPD, CRLF3, CRYBA1, EFCAB5, GIT1, GOSR1, NF1, NSRP1, NUFIP2, RNF135, SLC6A4, SSH2, TAOK1, TBC1D29P, TEFM, TMIGD1, TP53I13		Neurofibromatosis, type 1	Pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 242271374.	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 242271275.	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 242271176.	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 242113377.	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 241912378.	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 241912179.	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 241911980.	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 241885081.	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 241801382.	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 241502783.	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 241319184.	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 241316585.	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 241316386.	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 220072587.	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 219758088.	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 219672089.	NM_001042492.3(NF1):c.4944C>A (p.Thr1648=) GRCh37: Chr17:29652946 GRCh38: Chr17:31325928	NF1		Neurofibromatosis, type 1	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 219584690.	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 219574491.	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 219567992.	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 219535793.	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 219371094.	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 219307295.	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 219307096.	NM_001042492.3(NF1):c.6282T>C (p.Leu2094=) GRCh37: Chr17:29663787 GRCh38: Chr17:31336769	NF1		Neurofibromatosis, type 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 219175997.	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 219024998.	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 218722999.	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 2186973100.	NM_001042492.3(NF1):c.2955A>G (p.Gln985=) GRCh37: Chr17:29556957 GRCh38: Chr17:31229939	NF1		Neurofibromatosis, type 1	Likely benign (Apr 26, 2022)	criteria provided, single submitter

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