C1834235[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 890653	NM_000267.3(NF1):c.-363T>C	MIR4733HG, NF1 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 322553	NM_001042492.3(NF1):c.-322G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +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 322555	NM_001042492.3(NF1):c.-249_-247dup	LOC111811965, MIR4733HG +1 more	Duplication (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322554	NM_001042492.3(NF1):c.-248_-247dup	MIR4733HG, LOC111811965 +1 more	Duplication (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
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 322556	NM_001042492.3(NF1):c.-242dup	MIR4733HG, LOC111811965 +1 more	Duplication (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322557	NM_001042492.3(NF1):c.-237dup	LOC111811965, MIR4733HG +1 more	Duplication (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322558	NM_001042492.3(NF1):c.-237C>T	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322559	NM_001042492.3(NF1):c.-229C>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322560	NM_001042492.3(NF1):c.-209C>A	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322561	NM_001042492.3(NF1):c.-173C>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +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 322562	NM_001042492.3(NF1):c.-148C>A	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +4 more	GUncertain significance
Select item 322563	NM_001042492.3(NF1):c.-115T>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322564	NM_001042492.3(NF1):c.-84C>T	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 322565	NM_001042492.3(NF1):c.-73G>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 889509	NM_001042492.3(NF1):c.-51C>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis-Noonan syndrome +3 more	GUncertain significance
Select item 257274	NM_001042492.3(NF1):c.-22G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign/Likely benign
Select item 322566	NM_001042492.3(NF1):c.61-4del	NF1	Deletion (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 184126	NM_001042492.3(NF1):c.168C>T (p.Ser56=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign
Select item 322567	NM_001042492.3(NF1):c.205-13T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
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 141237	NM_001042492.3(NF1):c.340C>T (p.Leu114=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 185589	NM_001042492.3(NF1):c.354C>T (p.Cys118=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 184262	NM_001042492.3(NF1):c.369C>G (p.Thr123=)	NF1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 41673	NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	NF1 (D176E)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 391038	NM_001042492.3(NF1):c.681T>C (p.Tyr227=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +5 more	GConflicting classifications of pathogenicity
Select item 183825	NM_001042492.3(NF1):c.702G>A (p.Leu234=)	NF1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 322568	NM_001042492.3(NF1):c.730+16dup	NF1	Duplication (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 215725	NM_001042492.3(NF1):c.731-6A>C	NF1	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 184123	NM_001042492.3(NF1):c.846G>A (p.Gln282=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +8 more	GBenign/Likely benign
Select item 184857	NM_001042492.3(NF1):c.864G>C (p.Val288=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 184189	NM_001042492.3(NF1):c.1032A>G (p.Leu344=)	NF1	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 141982	NM_001042492.3(NF1):c.1166A>G (p.His389Arg)	NF1 (H389R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 185065	NM_001042492.3(NF1):c.1308G>A (p.Ser436=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 322569	NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala)	NF1 (T482A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 322570	NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)	NF1 (L550P)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 184133	NM_001042492.3(NF1):c.1810T>C (p.Leu604=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related condition +9 more	GBenign/Likely benign
Select item 322571	NM_001042492.3(NF1):c.1846-8T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +3 more	GConflicting classifications of pathogenicity
Select item 237524	NM_001042492.3(NF1):c.1866T>C (p.Cys622=)	NF1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 134880	NM_001042492.3(NF1):c.1933A>G (p.Met645Val)	NF1 (M645V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 184278	NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)	NF1 (G663R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 134881	NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)	NF1 (S665F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 230614	NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)	NF1 (G675R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 183826	NM_001042492.3(NF1):c.2034G>A (p.Pro678=)	NF1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 184280	NM_001042492.3(NF1):c.2178G>C (p.Val726=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 484027	NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)	NF1 (N793T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 888673	NM_001042492.3(NF1):c.2409+15T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +3 more	GConflicting classifications of pathogenicity
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 322572	NM_001042492.3(NF1):c.2794A>G (p.Met932Val)	NF1 (M932V)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +7 more	GUncertain significance
Select item 185313	NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 232714	NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 141451	NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)	NF1 (V1146I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 527517	NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)	NF1 (M1149V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +8 more	GPathogenic/Likely pathogenic
Select item 184364	NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related condition +7 more	GBenign/Likely benign
Select item 184320	NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 185777	NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)	NF1 (T1295A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 322573	NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +5 more	GConflicting classifications of pathogenicity
Select item 184818	NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu)	NF1 (D1302E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 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 141711	NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)	NF1 (G1382S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 322574	NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +3 more	GConflicting classifications of pathogenicity
Select item 227742	NM_001042492.3(NF1):c.4724+11A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis-Noonan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 184594	NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 184492	NM_001042492.3(NF1):c.4851A>G (p.Gln1617=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +7 more	GBenign/Likely benign
Select item 184058	NM_001042492.3(NF1):c.4882T>C (p.Leu1628=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign
Select item 184149	NM_001042492.3(NF1):c.4929G>A (p.Val1643=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign
Select item 41672	NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)	NF1 (I1658V +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign/Likely benign
Select item 184710	NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 231040	NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)	NF1 (E1699D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 184131	NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 142804	NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)	NF1 (S1817C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 184188	NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 404586	NM_001042492.3(NF1):c.6006+4T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis-Noonan syndrome +5 more	GConflicting classifications of pathogenicity
Select item 186544	NM_001042492.3(NF1):c.6033A>G (p.Leu2011=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related condition +7 more	GBenign/Likely benign
Select item 215465	NM_001042492.3(NF1):c.6147+8C>G	NF1	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 186545	NM_001042492.3(NF1):c.6171A>T (p.Ile2057=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 184228	NM_001042492.3(NF1):c.6393C>T (p.His2131=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +6 more	GBenign
Select item 186748	NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 322575	NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +5 more	GConflicting classifications of pathogenicity
Select item 888951	NM_001042492.3(NF1):c.6643-13T>C	NF1	Single nucleotide variant (intron variant)	Café-au-lait macules with pulmonary stenosis +4 more	GConflicting classifications of pathogenicity
Select item 41675	NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)	NF1 (P2289L +1 more)	Single nucleotide variant (missense variant)	NF1-related condition +8 more	GConflicting classifications of pathogenicity
Select item 322576	NM_001042492.3(NF1):c.7007C>A (p.Ala2336Glu)	NF1 (A2315E +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +3 more	GUncertain significance
Select item 184460	NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)	NF1	Single nucleotide variant (synonymous variant)	NF1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 413033	NM_001042492.3(NF1):c.7110C>T (p.His2370=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 184165	NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 184263	NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 412998	NM_001042492.3(NF1):c.7457+8G>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +4 more	GConflicting classifications of pathogenicity
Select item 322577	NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser)	NF1 (P2509S +1 more)	Single nucleotide variant (missense variant)	Café-au-lait macules with pulmonary stenosis +6 more	GUncertain significance
Select item 41678	NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)	NF1 (A2511V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
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 184185	NM_001042492.3(NF1):c.7755C>T (p.Ser2585=)	NF1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 141997	NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)	NF1 (Q2568H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 220337	NM_001042492.3(NF1):c.7870-8C>A	NF1	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 184261	NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	NF1 (R2616* +1 more)	Single nucleotide variant (nonsense)	Tibial pseudarthrosis +8 more	GPathogenic/Likely pathogenic
Select item 141895	NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)	NF1 (I2660V +1 more)	Single nucleotide variant (missense variant)	NF1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 141033	NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign

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