"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 237

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1013130	NM_001042492.3(NF1):c.-272G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257274	NM_001042492.3(NF1):c.-22G>C	MIR4733HG, NF1 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign/Likely benign
Select item 618757	NM_001042492.3(NF1):c.16C>T (p.Pro6Ser)	LOC111811965, MIR4733HG +1 more (P6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439969	NM_001042492.3(NF1):c.60+35G>A	MIR4733HG, NF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 439971	NM_001042492.3(NF1):c.61-14del	NF1	Deletion (intron variant)	not specified	GBenign
Select item 1197213	NM_001042492.3(NF1):c.61-4dup	NF1	Duplication (intron variant)	Neurofibromatosis, type 1 +2 more	GBenign/Likely benign
Select item 322566	NM_001042492.3(NF1):c.61-4del	NF1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 229787	NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)	NF1 (N45S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 184126	NM_001042492.3(NF1):c.168C>T (p.Ser56=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +7 more	GBenign
Select item 265442	NM_001042492.3(NF1):c.204+1G>A	NF1	Single nucleotide variant (splice donor variant)	not specified +4 more	GPathogenic/Likely pathogenic
Select item 257283	NM_001042492.3(NF1):c.288+41G>A	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 439975	NM_001042492.3(NF1):c.334C>T (p.Gln112Ter)	NF1 (Q112*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 811776	NM_001042492.3(NF1):c.338del (p.Leu113fs)	NF1 (L113fs)	Deletion (frameshift variant)	not specified +1 more	GPathogenic
Select item 853732	NM_001042492.3(NF1):c.454G>A (p.Ala152Thr)	NF1 (A152T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 142741	NM_001042492.3(NF1):c.475A>G (p.Thr159Ala)	NF1 (T159A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41673	NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	NF1 (D176E)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 439984	NM_001042492.3(NF1):c.551del (p.Asn184fs)	NF1 (N184fs)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 618253	NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)	NF1 (D186Y)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 237578	NM_001042492.3(NF1):c.587-3C>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 457770	NM_001042492.3(NF1):c.587-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68360	NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)	NF1 (L216P)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 439982	NM_001042492.3(NF1):c.654+1G>A	NF1	Single nucleotide variant (splice donor variant)	not specified +3 more	GPathogenic
Select item 257296	NM_001042492.3(NF1):c.655-29T>C	NF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 429007	NM_001042492.3(NF1):c.662G>A (p.Trp221Ter)	NF1 (W221*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 579648	NM_001042492.3(NF1):c.668G>A (p.Trp223Ter)	NF1 (W223*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 183825	NM_001042492.3(NF1):c.702G>A (p.Leu234=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +7 more	GBenign
Select item 439989	NM_001042492.3(NF1):c.730+32del	NF1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 215725	NM_001042492.3(NF1):c.731-6A>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis-Noonan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 439978	NM_001042492.3(NF1):c.731-1_731del	NF1	Deletion (splice acceptor variant)	not specified	GPathogenic
Select item 488814	NM_001042492.3(NF1):c.731-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 618755	NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)	NF1 (L249P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 420075	NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)	NF1 (W267*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 184123	NM_001042492.3(NF1):c.846G>A (p.Gln282=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +8 more	GBenign/Likely benign
Select item 1330646	NM_001042492.3(NF1):c.888+647C>G	NF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 257309	NM_001042492.3(NF1):c.889-25_889-21del	NF1	Microsatellite (intron variant)	not specified	GBenign
Select item 237610	NM_001042492.3(NF1):c.889-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +8 more	GPathogenic
Select item 187722	NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)	NF1 (R304*)	Single nucleotide variant (nonsense)	not specified +8 more	GPathogenic
Select item 480101	NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)	NF1 (I322T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 547576	NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)	NF1 (L327P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 457880	NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)	NF1	Microsatellite (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 439994	NM_001042492.3(NF1):c.1009G>T (p.Glu337Ter)	NF1 (E337*)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 439995	NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter)	NF1 (S365*)	Single nucleotide variant (nonsense)	not specified +2 more	GPathogenic
Select item 993576	NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)	NF1 (L380R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 640314	NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter)	NF1 (Q392*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 440003	NM_001042492.3(NF1):c.1178del (p.His393fs)	NF1 (H393fs)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 439976	NM_001042492.3(NF1):c.1185+2T>G	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 439970	NM_001042492.3(NF1):c.1186-13del	NF1	Deletion (intron variant)	not specified +3 more	GBenign
Select item 404597	NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	NF1 (R416*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 811464	NM_001042492.3(NF1):c.1261-30T>G	NF1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 229664	NM_001042492.3(NF1):c.1296G>A (p.Val432=)	NF1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 237514	NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)	NF1 (R461*)	Single nucleotide variant (nonsense)	NF1-related disorder +4 more	GPathogenic
Select item 257276	NM_001042492.3(NF1):c.1393-32T>C	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 484107	NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu)	NF1 (F477L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2419119	NM_001042492.3(NF1):c.1442del (p.Pro481fs)	NF1 (P481fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 354	NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	NF1 (Y489C)	Single nucleotide variant (missense variant)	Abnormality of the skin +8 more	GPathogenic
Select item 618252	NM_001042492.3(NF1):c.1467T>A (p.Tyr489Ter)	NF1 (Y489*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2920878	NM_001042492.3(NF1):c.1506dup (p.Asp503fs)	NF1 (D503fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 811921	NM_001042492.3(NF1):c.1532del (p.Pro511fs)	NF1 (P511fs)	Deletion (frameshift variant)	not specified	GPathogenic
Select item 346	NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)	NF1 (Q514fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 618760	NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro)	NF1 (A545P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 257278	NM_001042492.3(NF1):c.1641+39T>C	NF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 547601	NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)	NF1 (Q554*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 618759	NM_001042492.3(NF1):c.1672del (p.Ile558fs)	NF1 (I558fs)	Deletion (frameshift variant)	not provided	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 188086	NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs)	NF1 (E595fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 184133	NM_001042492.3(NF1):c.1810T>C (p.Leu604=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +8 more	GBenign/Likely benign
Select item 226850	NM_001042492.3(NF1):c.1845+13A>T	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 508865	NM_001042492.3(NF1):c.1845+17_1845+18del	NF1	Microsatellite (intron variant)	not specified +2 more	GLikely benign
Select item 257279	NM_001042492.3(NF1):c.1846-39C>T	NF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 439980	NM_001042492.3(NF1):c.1846-12A>T	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1213688	NM_001042492.3(NF1):c.1882del (p.Tyr628fs)	NF1 (Y628fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 68308	NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	NF1 (G629R)	Single nucleotide variant (missense variant)	NF1-related disorder +5 more	GPathogenic
Select item 134880	NM_001042492.3(NF1):c.1933A>G (p.Met645Val)	NF1 (M645V)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 186018	NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg)	NF1 (G672R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141819	NM_001042492.3(NF1):c.2022C>T (p.Ser674=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GBenign/Likely benign
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
Select item 183826	NM_001042492.3(NF1):c.2034G>A (p.Pro678=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +7 more	GBenign
Select item 188280	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1 (R681*)	Single nucleotide variant (nonsense)	Neurofibromatosis-Noonan syndrome +8 more	GPathogenic
Select item 439988	NM_001042492.3(NF1):c.2077_2078del (p.Met693fs)	NF1 (M693fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 412964	NM_001042492.3(NF1):c.2085G>A (p.Leu695=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +3 more	GLikely benign
Select item 2920873	NM_001042492.3(NF1):c.2113_2121dup (p.Met707_Ser708insValAlaMet)	NF1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 184381	NM_001042492.3(NF1):c.2133C>T (p.Arg711=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 2921216	NM_001042492.3(NF1):c.2251+2T>C	NF1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 215463	NM_001042492.3(NF1):c.2252-34T>C	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 215462	NM_001042492.3(NF1):c.2252-31A>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +3 more	GBenign/Likely benign
Select item 68312	NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)	NF1 (L763P)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 546100	NM_001042492.3(NF1):c.2325+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 439992	NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)	NF1 (W777*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 68316	NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)	NF1 (T780K)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 565792	NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter)	NF1 (Q803*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 618753	NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg)	NF1 (W837R)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely pathogenic
Select item 215712	NM_001042492.3(NF1):c.2514C>T (p.Ile838=)	NF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 68323	NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	NF1 (L847P)	Single nucleotide variant (missense variant)	not specified +8 more	GPathogenic/Likely pathogenic
Select item 183949	NM_001042492.3(NF1):c.2544G>A (p.Gly848=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign
Select item 811157	NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter)	NF1 (C851*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 481923	NM_001042492.3(NF1):c.2674del (p.Ser892fs)	NF1 (S892fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +5 more	GPathogenic
Select item 322572	NM_001042492.3(NF1):c.2794A>G (p.Met932Val)	NF1 (M932V)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1330627	NM_001042492.3(NF1):c.2815_2816insG (p.Asn939fs)	NF1 (N939fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 618249	NM_001042492.3(NF1):c.2842C>T (p.Gln948Ter)	NF1 (Q948*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 404574	NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter)	NF1 (Q950*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

<< First< Prev

Page of 3