"NF1-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 219977	NM_001042492.3(NF1):c.-8G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	NF1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 457731	NM_001042492.3(NF1):c.48C>T (p.Arg16=)	NF1, LOC111811965 +1 more	Single nucleotide variant (synonymous variant)	NF1-related disorder +3 more	GLikely benign
Select item 1216575	NM_001042492.3(NF1):c.60+1G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1586346	NM_001042492.3(NF1):c.60+15G>A	MIR4733HG, NF1	Single nucleotide variant (intron variant)	NF1-related disorder +1 more	GLikely benign
Select item 1601487	NM_001042492.3(NF1):c.60+16C>A	MIR4733HG, NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GBenign/Likely benign
Select item 1646152	NM_001042492.3(NF1):c.60+18G>A	MIR4733HG, NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GLikely benign
Select item 3054295	NM_001042492.3(NF1):c.60+22G>A	MIR4733HG, NF1	Single nucleotide variant (non-coding transcript variant +1 more)	NF1-related disorder	GLikely benign
Select item 3053971	NM_001042492.3(NF1):c.60+23G>C	MIR4733HG, NF1	Single nucleotide variant (non-coding transcript variant +1 more)	NF1-related disorder	GLikely benign
Select item 3039104	NM_001042492.3(NF1):c.61-7497_61-7496dup	NF1	Duplication (intron variant)	NF1-related disorder	GLikely benign
Select item 3043820	NM_001042492.3(NF1):c.61-7480T>C	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 3057725	NM_001042492.3(NF1):c.61-3C>A	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 480097	NM_001042492.3(NF1):c.74C>T (p.Thr25Ile)	NF1 (T25I)	Single nucleotide variant (missense variant)	NF1-related disorder +2 more	GUncertain significance
Select item 142742	NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)	NF1 (Q28P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 186329	NM_001042492.3(NF1):c.91C>T (p.His31Tyr)	NF1 (H31Y)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 141048	NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)	NF1 (T36S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 3046719	NM_001042492.3(NF1):c.129A>T (p.Leu43=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related disorder	GLikely benign
Select item 237522	NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)	NF1 (G57S)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 3048087	NM_001042492.3(NF1):c.177T>C (p.Thr59=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related disorder	GLikely benign
Select item 457548	NM_001042492.3(NF1):c.181A>G (p.Ile61Val)	NF1 (I61V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 3047961	NM_001042492.3(NF1):c.183T>C (p.Ile61=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related disorder	GLikely benign
Select item 233373	NM_001042492.3(NF1):c.235T>C (p.Leu79=)	NF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 527623	NM_001042492.3(NF1):c.264T>C (p.Asp88=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related disorder +3 more	GLikely benign
Select item 571198	NM_001042492.3(NF1):c.288+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +4 more	GPathogenic
Select item 3050476	NM_001042492.3(NF1):c.288+1131T>A	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 439975	NM_001042492.3(NF1):c.334C>T (p.Gln112Ter)	NF1 (Q112*)	Single nucleotide variant (nonsense)	not specified +4 more	GPathogenic
Select item 640096	NM_001042492.3(NF1):c.338dup (p.Leu113fs)	NF1 (L113fs)	Duplication (frameshift variant)	NF1-related disorder +3 more	GPathogenic
Select item 484117	NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)	NF1 (E116D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 185589	NM_001042492.3(NF1):c.354C>T (p.Cys118=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +7 more	GConflicting classifications of pathogenicity
Select item 233485	NM_001042492.3(NF1):c.417T>C (p.Ser139=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +2 more	GLikely benign
Select item 481959	NM_001042492.3(NF1):c.469A>G (p.Ile157Val)	NF1 (I157V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 845305	NM_001042492.3(NF1):c.480-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 2630944	NM_001042492.3(NF1):c.497T>C (p.Val166Ala)	NF1 (V166A)	Single nucleotide variant (missense variant)	NF1-related disorder	GUncertain significance
Select item 1346710	NM_001042492.3(NF1):c.511A>G (p.Asn171Asp)	NF1 (N171D)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 642860	NM_001042492.3(NF1):c.520G>A (p.Val174Ile)	NF1 (V174I)	Single nucleotide variant (missense variant)	NF1-related disorder +5 more	GUncertain significance
Select item 1076152	NM_001042492.3(NF1):c.586+1G>T	NF1	Single nucleotide variant (splice donor variant)	NF1-related disorder +1 more	GPathogenic
Select item 527485	NM_001042492.3(NF1):c.592G>A (p.Ala198Thr)	NF1 (A198T)	Single nucleotide variant (missense variant)	NF1-related disorder +3 more	GUncertain significance
Select item 237584	NM_001042492.3(NF1):c.628T>C (p.Leu210=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +2 more	GLikely benign
Select item 2632989	NM_001042492.3(NF1):c.755dup (p.Leu252fs)	NF1 (L252fs)	Duplication (frameshift variant)	NF1-related disorder	GPathogenic
Select item 480113	NM_001042492.3(NF1):c.774A>G (p.Glu258=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related disorder +3 more	GLikely benign
Select item 1568827	NM_001042492.3(NF1):c.780C>T (p.Thr260=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related disorder +3 more	GLikely benign
Select item 413022	NM_001042492.3(NF1):c.819C>T (p.Leu273=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +3 more	GLikely benign
Select item 184914	NM_001042492.3(NF1):c.861C>T (p.Asp287=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1481558	NM_001042492.3(NF1):c.871G>A (p.Glu291Lys)	NF1 (E291K)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 1330646	NM_001042492.3(NF1):c.888+647C>G	NF1	Single nucleotide variant (intron variant)	NF1-related disorder +1 more	GBenign/Likely benign
Select item 3052133	NM_001042492.3(NF1):c.888+660A>G	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 664551	NM_001042492.3(NF1):c.888+789A>G	NF1	Single nucleotide variant (intron variant)	NF1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2902064	NM_001042492.3(NF1):c.889-21C>T	NF1	Single nucleotide variant (intron variant)	NF1-related disorder +1 more	GLikely benign
Select item 1635149	NM_001042492.3(NF1):c.889-17A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GLikely benign
Select item 185099	NM_001042492.3(NF1):c.898C>T (p.Leu300=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 187722	NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)	NF1 (R304*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +8 more	GPathogenic
Select item 187066	NM_001042492.3(NF1):c.942G>A (p.Arg314=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 404522	NM_001042492.3(NF1):c.964A>G (p.Ile322Val)	NF1 (I322V)	Single nucleotide variant (missense variant)	NF1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 642154	NM_001042492.3(NF1):c.976A>G (p.Lys326Glu)	NF1 (K326E)	Single nucleotide variant (missense variant)	NF1-related disorder +3 more	GUncertain significance
Select item 2633754	NM_001042492.3(NF1):c.984T>A (p.Cys328Ter)	NF1 (C328*)	Single nucleotide variant (nonsense)	NF1-related disorder	GPathogenic
Select item 2633871	NM_001042492.3(NF1):c.1058T>G (p.Leu353Arg)	NF1 (L353R)	Single nucleotide variant (missense variant)	NF1-related disorder	GUncertain significance
Select item 2629320	NM_001042492.3(NF1):c.1062+3A>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 413010	NM_001042492.3(NF1):c.1062+7T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +5 more	GLikely benign
Select item 3041293	NM_001042492.3(NF1):c.1062+110T>C	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 404542	NM_001042492.3(NF1):c.1062+113A>G	NF1	Single nucleotide variant (intron variant)	NF1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 232969	NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr)	NF1 (S361T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 993576	NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)	NF1 (L380R)	Single nucleotide variant (missense variant)	NF1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 237511	NM_001042492.3(NF1):c.1176A>G (p.Gln392=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 2631585	NM_001042492.3(NF1):c.1185G>T (p.Lys395Asn)	NF1 (K395N)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 527679	NM_001042492.3(NF1):c.1185+7G>A	NF1	Single nucleotide variant (intron variant)	NF1-related disorder +5 more	GLikely benign
Select item 3032478	NM_001042492.3(NF1):c.1260+1608A>G	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 229664	NM_001042492.3(NF1):c.1296G>A (p.Val432=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related disorder +5 more	GLikely benign
Select item 1770746	NM_001042492.3(NF1):c.1358G>C (p.Gly453Ala)	NF1 (G453A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 237515	NM_001042492.3(NF1):c.1369C>T (p.His457Tyr)	NF1 (H457Y)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 237514	NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)	NF1 (R461*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 480071	NM_001042492.3(NF1):c.1392+5G>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis-Noonan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 890836	NM_001042492.3(NF1):c.1392+6A>T	NF1	Single nucleotide variant (intron variant)	NF1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 3035833	NM_001042492.3(NF1):c.1392+750A>G	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 3049513	NM_001042492.3(NF1):c.1393-596G>T	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 3032559	NM_001042492.3(NF1):c.1393-590A>G	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 3044780	NM_001042492.3(NF1):c.1393-579C>T	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 431589	NM_001042492.3(NF1):c.1527+1G>C	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 423916	NM_001042492.3(NF1):c.1527+2T>G	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +4 more	GPathogenic
Select item 1169079	NM_001042492.3(NF1):c.1527+14del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1 +1 more	GBenign/Likely benign
Select item 1623540	NM_001042492.3(NF1):c.1527+14T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GLikely benign
Select item 232968	NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro)	NF1 (Q514P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 141369	NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)	NF1 (V530I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2111070	NM_001042492.3(NF1):c.1630G>A (p.Glu544Lys)	NF1 (E544K)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 1503341	NM_001042492.3(NF1):c.1700T>C (p.Val567Ala)	NF1 (V567A)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 484115	NM_001042492.3(NF1):c.1710T>C (p.Phe570=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 830269	NM_001042492.3(NF1):c.1721+19_1721+21del	NF1 (F580del)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3032666	NM_001042492.3(NF1):c.1721+66T>A	NF1	Single nucleotide variant (3 prime UTR variant +1 more)	NF1-related disorder	GLikely benign
Select item 3029987	NM_001042492.3(NF1):c.1721+69A>G	NF1	Single nucleotide variant (3 prime UTR variant +1 more)	NF1-related disorder	GLikely benign
Select item 186215	NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	NF1	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +5 more	GConflicting classifications of pathogenicity
Select item 1779605	NM_001042492.3(NF1):c.1762C>T (p.His588Tyr)	NF1 (H588Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 186812	NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn)	NF1 (S592N)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 404478	NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)	NF1 (R601Q)	Single nucleotide variant (missense variant)	NF1-related disorder +8 more	GUncertain significance
Select item 184133	NM_001042492.3(NF1):c.1810T>C (p.Leu604=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +9 more	GBenign/Likely benign
Select item 184167	NM_001042492.3(NF1):c.1884C>T (p.Tyr628=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +2 more	GLikely benign
Select item 68308	NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	NF1 (G629R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 231484	NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr)	NF1 (I634T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 184221	NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln)	NF1 (R659Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 852948	NM_001042492.3(NF1):c.1997C>T (p.Ser666Phe)	NF1 (S666F)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 41669	NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)	NF1 (P678L)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 818186	NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter)	NF1 (Q682*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +2 more	GPathogenic

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