ClinVar for MedGen (Select 107817) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340504	NM_001042492.3(NF1):c.5907_5910del (p.Arg1970fs)	NF1 (R1949fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, familial spinal +4 more	GPathogenic
Select item 3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 1675105	NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)	NF1 (Q1814K +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 1668777	NM_001042492.3(NF1):c.7062+12_7062+13del	NF1	Deletion (intron variant)	Neurofibromatosis, familial spinal +4 more	GLikely benign
Select item 1658095	NM_001042492.3(NF1):c.5269-18G>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1649853	NM_001042492.3(NF1):c.4835+14T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1642467	NM_001042492.3(NF1):c.61-19T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1642122	NM_001042492.3(NF1):c.3871-18A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1641755	NM_001042492.3(NF1):c.1186-12C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1638402	NM_001042492.3(NF1):c.3496+14A>G	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GLikely benign
Select item 1617742	NM_001042492.3(NF1):c.4835+13A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1615859	NM_001042492.3(NF1):c.7970+16T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis-Noonan syndrome +4 more	GLikely benign
Select item 1610212	NM_001042492.3(NF1):c.3708+11A>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +4 more	GLikely benign
Select item 1603859	NM_001042492.3(NF1):c.2252-18G>C	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GLikely benign
Select item 1603243	NM_001042492.3(NF1):c.4110+15A>G	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GLikely benign
Select item 1593023	NM_001042492.3(NF1):c.60+11C>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +4 more	GLikely benign
Select item 1589679	NM_001042492.3(NF1):c.5269-19C>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +4 more	GLikely benign
Select item 1589665	NM_001042492.3(NF1):c.731-16T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +4 more	GLikely benign
Select item 1588832	NM_001042492.3(NF1):c.4872A>T (p.Ile1624=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +4 more	GLikely benign
Select item 1577463	NM_001042492.3(NF1):c.5813-12A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1575818	NM_001042492.3(NF1):c.7615+19T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1544092	NM_001042492.3(NF1):c.587-20A>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1527847	NM_001042492.3(NF1):c.6897del (p.Lys2300fs)	NF1 (K2279fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis-Noonan syndrome +4 more	GPathogenic
Select item 1524680	NM_001042492.3(NF1):c.1721+6T>C	NF1 (M576T)	Single nucleotide variant (missense variant +1 more)	Juvenile myelomonocytic leukemia +5 more	GConflicting classifications of pathogenicity
Select item 1523573	NM_001042492.3(NF1):c.7113C>T (p.Cys2371=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 1521057	NM_001042492.3(NF1):c.1185+20T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1510652	NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu)	NF1 (F1458L +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 1478919	NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys)	NF1 (S1843C +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 1473057	NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu)	NF1 (F2339L +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 1452227	NM_001042492.3(NF1):c.6006+17A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1395401	NM_001042492.3(NF1):c.6007-9_6007-7del	NF1	Microsatellite (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1387584	NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)	NF1	Deletion (nonsense)	Neurofibromatosis, familial spinal +4 more	GPathogenic/Likely pathogenic
Select item 1385163	NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val)	NF1 (I2814V +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 1360877	NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)	NF1 (K1661* +1 more)	Duplication (nonsense)	Neurofibromatosis, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 1358283	NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His)	NF1 (Y2577H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 1343914	NM_001042492.3(NF1):c.5078A>G (p.His1693Arg)	NF1 (H1672R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GUncertain significance
Select item 1341775	NM_001042492.3(NF1):c.4174-22A>G	NF1	Single nucleotide variant (intron variant)	Café-au-lait macules with pulmonary stenosis +2 more	GUncertain significance
Select item 1320349	NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)	NF1 (K2286R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GUncertain significance
Select item 1213688	NM_001042492.3(NF1):c.1882del (p.Tyr628fs)	NF1 (Y628fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 1206652	NM_001042492.3(NF1):c.6819+11C>T	NF1	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 1190641	NM_001042492.3(NF1):c.889-11_889-6delinsAAATT	NF1	Indel (intron variant)	not provided +5 more	GUncertain significance
Select item 1185713	NM_001042492.3(NF1):c.7971-8dup	NF1	Duplication (intron variant)	Neurofibromatosis-Noonan syndrome +5 more	GBenign/Likely benign
Select item 1153227	NM_001042492.3(NF1):c.2001+11_2001+13del	NF1	Microsatellite (intron variant)	Juvenile myelomonocytic leukemia +4 more	GLikely benign
Select item 1144454	NM_001042492.3(NF1):c.6120T>C (p.Ser2040=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +6 more	GLikely benign
Select item 1140766	NM_001042492.3(NF1):c.2694G>A (p.Leu898=)	NF1	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +6 more	GLikely benign
Select item 1119788	NM_001042492.3(NF1):c.2586C>T (p.Thr862=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1069722	NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter)	NF1 (E1210*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +4 more	GPathogenic
Select item 1055431	NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp)	NF1 (G1526D +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 1032277	NM_001042492.3(NF1):c.5306G>C (p.Arg1769Pro)	NF1 (R1748P +1 more)	Single nucleotide variant (missense variant)	Café-au-lait macules with pulmonary stenosis	GUncertain significance
Select item 1029751	NM_001042492.3(NF1):c.4378C>G (p.His1460Asp)	NF1 (H1439D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1025866	NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr)	NF1 (D1464Y +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 1024989	NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys)	NF1 (R765C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 998177	NM_001042492.3(NF1):c.6819+3del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 960019	NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter)	NF1 (S1776* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 958469	NM_001042492.3(NF1):c.7971-321C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 951075	NM_001042492.3(NF1):c.888+2T>G	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 892503	NM_001042492.3(NF1):c.*194A>C	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 892502	NM_001042492.3(NF1):c.*160A>T	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 891893	NM_001042492.3(NF1):c.*2777C>T	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GBenign
Select item 891892	NM_001042492.3(NF1):c.-251C>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 891891	NM_001042492.3(NF1):c.-265G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 891756	NM_001042492.3(NF1):c.*1481A>G	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GBenign
Select item 891683	NM_001042492.3(NF1):c.*1150C>T	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 891622	NM_001042492.3(NF1):c.*585G>A	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +4 more	GUncertain significance
Select item 891509	NM_001042492.3(NF1):c.*1479A>C	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 891431	NM_001042492.3(NF1):c.*971T>A	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GBenign
Select item 891430	NM_001042492.3(NF1):c.*887C>G	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 891376	NM_001042492.3(NF1):c.*584G>C	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GConflicting classifications of pathogenicity
Select item 891375	NM_001042492.3(NF1):c.*582T>G	NF1	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 891306	NM_001042492.3(NF1):c.*126G>A	NF1	Single nucleotide variant (3 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 891305	NM_001042492.3(NF1):c.*124C>T	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 890836	NM_001042492.3(NF1):c.1392+6A>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis-Noonan syndrome +4 more	GConflicting classifications of pathogenicity
Select item 890752	NM_001042492.3(NF1):c.270G>A (p.Leu90=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 890703	NM_001042492.3(NF1):c.*3227A>G	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 890702	NM_001042492.3(NF1):c.*3189G>A	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 890701	NM_001042492.3(NF1):c.-166T>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 890653	NM_000267.3(NF1):c.-363T>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 890433	NM_001042492.3(NF1):c.3975-12A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis-Noonan syndrome +3 more	GBenign/Likely benign
Select item 890172	NM_001042492.3(NF1):c.*3514G>T	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 890073	NM_001042492.3(NF1):c.*2540T>G	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 890012	NM_001042492.3(NF1):c.*2073T>C	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 889951	NM_001042492.3(NF1):c.*1208C>T	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 889821	NM_001042492.3(NF1):c.*541G>A	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GBenign/Likely benign
Select item 889769	NM_001042492.3(NF1):c.*101T>C	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 889704	NM_001042492.3(NF1):c.7616-15A>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis-Noonan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 889510	NM_001042492.3(NF1):c.*3514G>A	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis-Noonan syndrome +4 more	GBenign/Likely benign
Select item 889509	NM_001042492.3(NF1):c.-51C>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +4 more	GUncertain significance
Select item 889384	NM_001042492.3(NF1):c.*2247T>C	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 889330	NM_001042492.3(NF1):c.*2010A>G	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 889264	NM_001042492.3(NF1):c.*1187C>A	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 889206	NM_001042492.3(NF1):c.*585G>T	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis-Noonan syndrome +4 more	GBenign/Likely benign
Select item 889139	NM_001042492.3(NF1):c.*385C>T	NF1	Single nucleotide variant (3 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 888951	NM_001042492.3(NF1):c.6643-13T>C	NF1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 888673	NM_001042492.3(NF1):c.2409+15T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis-Noonan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 860086	NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)	NF1 (A2786V +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GUncertain significance
Select item 854100	NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)	NF1 (P2674L +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 827218	NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)	NF1 (R2594L +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GConflicting classifications of pathogenicity
Select item 827067	NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)	NF1 (Y2508C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 826644	NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)	NF1 (I2296T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 826486	NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe)	NF1 (L2210F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance

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