C0027831[trait identifier] AND "Laboratory of Medical Genetics, Nation - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048691	NM_001042492.3(NF1):c.160del (p.Val54fs)	NF1 (V54fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048741	NM_001042492.3(NF1):c.288_288+2del	NF1	Deletion (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048714	NM_001042492.3(NF1):c.350dup (p.Cys118fs)	NF1 (C118fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048744	NM_001042492.3(NF1):c.376G>T (p.Glu126Ter)	NF1 (E126*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1048748	NM_001042492.3(NF1):c.385C>T (p.Gln129Ter)	NF1 (Q129*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 934275	NM_001042492.3(NF1):c.461_462del (p.Val153_Phe154insTer)	NF1	Deletion (nonsense)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 1048706	NM_001042492.3(NF1):c.501T>A (p.Cys167Ter)	NF1 (C167*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1048687	NM_001042492.3(NF1):c.546dup (p.Ile183fs)	NF1 (I183fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048672	NM_001042492.3(NF1):c.579_581del (p.Leu194del)	NF1 (L194del)	Deletion (inframe_deletion)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1048743	NM_001042492.3(NF1):c.586G>T (p.Glu196Ter)	NF1 (E196*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048732	NM_001042492.3(NF1):c.654+2T>C	NF1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1048704	NM_001042492.3(NF1):c.693del (p.Phe231fs)	NF1 (F231fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 839743	NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)	NF1 (A323D)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 996374	NM_001042492.3(NF1):c.1021_1022del (p.Val341fs)	NF1 (V341fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 1048705	NM_001042492.3(NF1):c.1022_1023insGA (p.Ile342fs)	NF1 (I342fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048752	NM_001042492.3(NF1):c.1101del (p.Ser368fs)	NF1 (S368fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048701	NM_001042492.3(NF1):c.1358del (p.Gly453fs)	NF1 (G453fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 848259	NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu)	NF1 (K476E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 346	NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)	NF1 (Q514fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic
Select item 1048695	NM_001042492.3(NF1):c.1691_1692insC (p.Ala565fs)	NF1 (A565fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048679	NM_001042492.3(NF1):c.1702_1703dup (p.Thr569fs)	NF1 (T569fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048677	NM_001042492.3(NF1):c.1714dup (p.Glu572fs)	NF1 (E572fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 68306	NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)	NF1 (K583R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1048683	NM_001042492.3(NF1):c.1920del (p.Ser641fs)	NF1 (S641fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 952282	NM_001042492.3(NF1):c.1924C>T (p.Gln642Ter)	NF1 (Q642*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048750	NM_001042492.3(NF1):c.2009_2016dup (p.Cys673fs)	NF1 (C673fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048682	NM_001042492.3(NF1):c.2034_2035insC (p.Ile679fs)	NF1 (I679fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048745	NM_001042492.3(NF1):c.2082del (p.Leu695fs)	NF1 (L695fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1708134	NM_001042492.3(NF1):c.2205T>A (p.Tyr735Ter)	NF1 (Y735*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048685	NM_001042492.3(NF1):c.2248dup (p.Thr750fs)	NF1 (T750fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048724	NM_001042492.3(NF1):c.2409_2409+4delinsC	NF1	Indel (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048739	NM_001042492.3(NF1):c.2729del (p.Gly910fs)	NF1 (G910fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048728	NM_001042492.3(NF1):c.2831_2832insAAAA (p.Phe944fs)	NF1 (F944fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048694	NM_001042492.3(NF1):c.2847_2850+1del	NF1	Deletion (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048719	NM_001042492.3(NF1):c.2858T>A (p.Leu953Ter)	NF1 (L953*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048713	NM_001042492.3(NF1):c.2957del (p.Ala986fs)	NF1 (A986fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048681	NM_001042492.3(NF1):c.3063_3065del (p.Met1023del)	NF1 (M1023del)	Deletion (inframe_deletion)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1048696	NM_001042492.3(NF1):c.3104del (p.Met1035fs)	NF1 (M1035fs)	Deletion (frameshift variant)	Café-au-lait macules with pulmonary stenosis	GPathogenic
Select item 658527	NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)	NF1 (M1035K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 1048680	NM_001042492.3(NF1):c.3114-1G>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048711	NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg)	NF1 (W1048R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048710	NM_001042492.3(NF1):c.3176A>G (p.Asp1059Gly)	NF1 (D1059G)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1048725	NM_001042492.3(NF1):c.3236T>C (p.Leu1079Pro)	NF1 (L1079P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1048692	NM_001042492.3(NF1):c.3302A>T (p.Gln1101Leu)	NF1 (Q1101L)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 944507	NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)	NF1	Microsatellite (nonsense)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 996375	NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs)	NF1 (D1116fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1048693	NM_001042492.3(NF1):c.3556del (p.Ile1186fs)	NF1 (I1186fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048690	NM_001042492.3(NF1):c.3574G>T (p.Glu1192Ter)	NF1 (E1192*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048734	NM_001042492.3(NF1):c.3595del (p.Thr1199fs)	NF1 (T1199fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048684	NM_001042492.3(NF1):c.3641dup (p.Met1214fs)	NF1 (M1214fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048688	NM_001042492.3(NF1):c.3641_3645del (p.Met1214fs)	NF1 (M1214fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048703	NM_001042492.3(NF1):c.3778del (p.Met1260fs)	NF1 (M1260fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048742	NM_001042492.3(NF1):c.3789del (p.Glu1264fs)	NF1 (E1264fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048715	NM_001042492.3(NF1):c.3870_3871insTAG (p.Val1291Ter)	NF1 (V1291*)	Insertion (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 996508	NM_001042492.3(NF1):c.3876T>G (p.Tyr1292Ter)	NF1 (Y1292*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 344	NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)	NF1 (R1362*)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic
Select item 1048751	NM_001042492.3(NF1):c.4235_4240del (p.Arg1412_Phe1413del)	NF1	Deletion (inframe_deletion)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1048737	NM_001042492.3(NF1):c.4313del (p.Gly1438fs)	NF1 (G1417fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1048686	NM_001042492.3(NF1):c.4327del (p.Ser1443fs)	NF1 (S1422fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048747	NM_001042492.3(NF1):c.4432_4433insAA (p.Phe1478Ter)	NF1 (F1457* +1 more)	Insertion (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048735	NM_001042492.3(NF1):c.4509dup (p.Val1504fs)	NF1 (V1483fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048729	NM_001042492.3(NF1):c.4563T>G (p.Tyr1521Ter)	NF1 (Y1500* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048689	NM_001042492.3(NF1):c.4578-9T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048721	NM_001042492.3(NF1):c.4578-3T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1048730	NM_001042492.3(NF1):c.4608_4611delinsC (p.Asp1537del)	NF1 (D1516del +1 more)	Indel (inframe_deletion)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1048712	NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu)	NF1 (A1519E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1048720	NM_001042492.3(NF1):c.4836G>C (p.Arg1612Ser)	NF1 (R1591S +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1048726	NM_001042492.3(NF1):c.4981A>T (p.Lys1661Ter)	NF1 (K1640* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048716	NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter)	NF1 (W1641* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 1048698	NM_001042492.3(NF1):c.5040T>A (p.Tyr1680Ter)	NF1 (Y1659* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048697	NM_001042492.3(NF1):c.5270T>G (p.Val1757Gly)	NF1 (V1736G +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1048722	NM_001042492.3(NF1):c.5390del (p.Asn1797fs)	NF1 (N1776fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048675	NM_001042492.3(NF1):c.5398A>C (p.Thr1800Pro)	NF1 (T1779P +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1048746	NM_001042492.3(NF1):c.5473_5506del (p.Ile1825fs)	NF1 (I1804fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 855874	NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr)	NF1 (I1824T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048749	NM_001042492.3(NF1):c.5609+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048718	NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)	NF1 (F1863L +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GPathogenic/Likely pathogenic
Select item 1048754	NM_001042492.3(NF1):c.6004del (p.Gln2002fs)	NF1 (Q1981fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048707	NM_001042492.3(NF1):c.6022G>C (p.Asp2008His)	NF1 (D1987H +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048699	NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg)	NF1 (S1997R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1048717	NM_001042492.3(NF1):c.6100dup (p.Thr2034fs)	NF1 (T2013fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048676	NM_001042492.3(NF1):c.6488del (p.Leu2163fs)	NF1 (L2142fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1048708	NM_001042492.3(NF1):c.6564dup (p.Pro2189fs)	NF1 (P2168fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048733	NM_001042492.3(NF1):c.6591del (p.Phe2197fs)	NF1 (F2176fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048731	NM_001042492.3(NF1):c.6720_6721dup (p.Asn2241fs)	NF1 (N2220fs +1 more)	Microsatellite (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048700	NM_001042492.3(NF1):c.6732del (p.Gln2245fs)	NF1 (Q2224fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 950585	NM_001042492.3(NF1):c.6819+2T>G	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048727	NM_001042492.3(NF1):c.6820-2A>C	NF1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1048740	NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)	NF1 (G2313R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048702	NM_001042492.3(NF1):c.7048del (p.Ile2350fs)	NF1 (I2329fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048709	NM_001042492.3(NF1):c.7060A>T (p.Lys2354Ter)	NF1 (K2333* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048673	NM_001042492.3(NF1):c.7171del (p.Val2391fs)	NF1 (V2370fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1048738	NM_001042492.3(NF1):c.7376del (p.Lys2459fs)	NF1 (K2438fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048736	NM_001042492.3(NF1):c.7739-3C>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1048674	NM_001042492.3(NF1):c.7739-3_7743delCAGAAACT	NF1	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1048723	NM_001042492.3(NF1):c.7788_7789insG (p.Ser2597fs)	NF1 (S2576fs +1 more)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1048753	NM_001042492.3(NF1):c.7814del (p.Leu2605fs)	NF1 (L2584fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3256550	NM_001042492.3(NF1):c.8090_8093del (p.Gln2697fs)	NF1 (Q2676fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1048678	NM_000268.4(NF2):c.1069G>A (p.Glu357Lys)	NF2 (E274K +3 more)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 1	GUncertain significance

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Items: 99