Variants in gene NF1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 77

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	rs137854550	0.00002
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)	rs367684252	0.00001
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly)	rs878853894	0.00001
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)	rs771597781	0.00001
NM_001042492.3(NF1):c.1062+3A>G	rs1057521098
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)	rs1555611004
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)	rs1555611581
NM_001042492.3(NF1):c.1496T>C (p.Leu499Pro)	rs1555612288
NM_001042492.3(NF1):c.1527+2dup	rs1597698533
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro)	rs199474737
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)	rs1555613193
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg)	rs2066929440
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg)	rs199474738
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)	rs876658853
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser)	rs2067038047
NM_001042492.3(NF1):c.2410-13A>G	rs1567848711
NM_001042492.3(NF1):c.2410-3T>G	rs1450743199
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)	rs1135402831
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)	rs1555614342
NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs)	rs1597716378
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)	rs137854553
NM_001042492.3(NF1):c.3113+2T>C	rs876658997
NM_001042492.3(NF1):c.3315-3C>G	rs752318318
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)	rs199474764
NM_001042492.3(NF1):c.3496+5G>C	rs786202564
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)	rs2067142076
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser)	rs199474780
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del)	rs1555615077
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg)	rs1555615453
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)	rs1597722611
NM_001042492.3(NF1):c.3871-13T>A	rs1597722866
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)	rs376576925
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)	rs1555618516
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)	rs1555618518
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)	rs1555618566
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met)	rs199474781
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile)	rs199474754
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del)	rs1555618653
NM_001042492.3(NF1):c.4381_4382del (p.Met1461fs)
NM_001042492.3(NF1):c.4430+1G>A	rs773151680
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly)	rs1135402862
NM_001042492.3(NF1):c.4578-3del	rs1597748663
NM_001042492.3(NF1):c.4578-9T>A	rs2067688959
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)	rs1060500316
NM_001042492.3(NF1):c.4903_4917del (p.Tyr1635_Tyr1639del)	rs2069327013
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg)	rs1555533305
NM_001042492.3(NF1):c.5157dup (p.Glu1720fs)
NM_001042492.3(NF1):c.5269-19C>A	rs755620051
NM_001042492.3(NF1):c.5270T>G (p.Val1757Gly)	rs1021835871
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn)	rs2143707759
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val)	rs1170679293
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr)	rs864622647
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys)	rs786203824
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)	rs786203824
NM_001042492.3(NF1):c.586+5G>C	rs1060500284
NM_001042492.3(NF1):c.587-14T>A	rs940581106
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)	rs1555534432
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)	rs199474756
NM_001042492.3(NF1):c.6642+18A>G	rs1555534893
NM_001042492.3(NF1):c.6705-17G>A	rs1064795966
NM_001042492.3(NF1):c.6705-5T>G	rs1597844956
NM_001042492.3(NF1):c.6777del (p.Ser2260fs)
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg)	rs1060500344
NM_001042492.3(NF1):c.6820-10T>G	rs1597845883
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)	rs765418194
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro)	rs1131691267
NM_001042492.3(NF1):c.7009CTT[1] (p.Leu2338del)	rs2069792818
NM_001042492.3(NF1):c.7063-3T>G	rs1241158120
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser)	rs1555535439
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)	rs1567826623
NM_001042492.3(NF1):c.7971-1G>T	rs1417908560
NM_001042492.3(NF1):c.8161-3C>G	rs786203684
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter)	rs1135402798
NM_001042492.3(NF1):c.889-21C>A	rs753797445
NM_001042492.3(NF1):c.987A>G (p.Lys329=)	rs2066508210
NM_001042492.3(NF1):c.99A>G (p.Lys33=)	rs786203280

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