C0027831[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322562	NM_001042492.3(NF1):c.-148C>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 578123	NM_001042492.3(NF1):c.15G>T (p.Arg5Ser)	LOC111811965, MIR4733HG +1 more (R5S)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 219691	NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)	LOC111811965, MIR4733HG +1 more (P6L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
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 1642467	NM_001042492.3(NF1):c.61-19T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 457784	NM_001042492.3(NF1):c.61-9T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +5 more	GConflicting classifications of pathogenicity
Select item 186105	NM_001042492.3(NF1):c.100G>A (p.Val34Ile)	NF1 (V34I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
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 187703	NM_001042492.3(NF1):c.212T>C (p.Phe71Ser)	NF1 (F71S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 141116	NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)	NF1 (K77N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 230049	NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)	NF1 (N78K)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 404572	NM_001042492.3(NF1):c.289-6T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 141237	NM_001042492.3(NF1):c.340C>T (p.Leu114=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GBenign/Likely benign
Select item 484117	NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)	NF1 (E116D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 184262	NM_001042492.3(NF1):c.369C>G (p.Thr123=)	NF1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 233235	NM_001042492.3(NF1):c.389A>T (p.His130Leu)	NF1 (H130L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 570300	NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)	NF1 (N151S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 481930	NM_001042492.3(NF1):c.520G>T (p.Val174Phe)	NF1 (V174F)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GUncertain significance
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 141341	NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)	NF1 (R192Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
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 237582	NM_001042492.3(NF1):c.624G>A (p.Ala208=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GLikely benign
Select item 220294	NM_001042492.3(NF1):c.703T>C (p.Tyr235His)	NF1 (Y235H)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +6 more	GUncertain significance
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 527438	NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)	NF1 (Q282R)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GUncertain significance
Select item 41680	NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)	NF1 (D283Y)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +7 more	GConflicting classifications of pathogenicity
Select item 219894	NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)	NF1 (N295K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1190641	NM_001042492.3(NF1):c.889-11_889-6delinsAAATT	NF1	Indel (intron variant)	not provided +5 more	GUncertain significance
Select item 220058	NM_001042492.3(NF1):c.889-6del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 481962	NM_001042492.3(NF1):c.890A>G (p.Lys297Arg)	NF1 (K297R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 187722	NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)	NF1 (R304*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic
Select item 184560	NM_001042492.3(NF1):c.1005T>C (p.Asn335=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +6 more	GBenign/Likely benign
Select item 545745	NM_001042492.3(NF1):c.1020dup (p.Val341fs)	NF1 (V341fs)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
Select item 413010	NM_001042492.3(NF1):c.1062+7T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 368	NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)	NF1 (L357P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 141982	NM_001042492.3(NF1):c.1166A>G (p.His389Arg)	NF1 (H389R)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +7 more	GConflicting classifications of pathogenicity
Select item 185943	NM_001042492.3(NF1):c.1182T>C (p.Phe394=)	NF1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 527679	NM_001042492.3(NF1):c.1185+7G>A	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GLikely benign
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 1641755	NM_001042492.3(NF1):c.1186-12C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 457522	NM_001042492.3(NF1):c.1186-6C>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +5 more	GBenign/Likely benign
Select item 404597	NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	NF1 (R416*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 185401	NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)	NF1 (A422T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +7 more	GUncertain significance
Select item 230673	NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)	NF1 (R440*)	Single nucleotide variant (nonsense)	Neurofibrmatosis type 1 +8 more	GPathogenic
Select item 457530	NM_001042492.3(NF1):c.1356A>G (p.Gln452=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 354	NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	NF1 (Y489C)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 819414	NM_001042492.3(NF1):c.1509T>C (p.Asp503=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +6 more	GLikely benign
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 142619	NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)	NF1 (R601W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 404478	NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)	NF1 (R601Q)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 184133	NM_001042492.3(NF1):c.1810T>C (p.Leu604=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +8 more	GBenign/Likely benign
Select item 429019	NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)	NF1 (A617T)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +6 more	GConflicting classifications of pathogenicity
Select item 134883	NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)	NF1 (C632S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
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 1153227	NM_001042492.3(NF1):c.2001+11_2001+13del	NF1	Microsatellite (intron variant)	Juvenile myelomonocytic leukemia +4 more	GLikely benign
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 229779	NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)	NF1 (T685S)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +7 more	GUncertain significance
Select item 232635	NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)	NF1 (R720W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 185107	NM_001042492.3(NF1):c.2251+5A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +6 more	GConflicting classifications of pathogenicity
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 576444	NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)	NF1 (Q756*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +6 more	GPathogenic
Select item 821025	NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)	NF1 (A761T)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +6 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 457578	NM_001042492.3(NF1):c.2325+4T>C	NF1	Single nucleotide variant (intron variant)	not provided +7 more	GUncertain significance
Select item 457580	NM_001042492.3(NF1):c.2326-9T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +4 more	GConflicting classifications of pathogenicity
Select item 457581	NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)	NF1 (T780R)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +7 more	GPathogenic/Likely pathogenic
Select item 484051	NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)	NF1 (K814E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +13 more	GPathogenic
Select item 185170	NM_001042492.3(NF1):c.2458G>A (p.Val820Met)	NF1 (V820M)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GUncertain significance
Select item 219435	NM_001042492.3(NF1):c.2541T>C (p.Leu847=)	NF1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 68324	NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)	NF1 (G848E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GPathogenic
Select item 404494	NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)	NF1 (N857S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GUncertain significance
Select item 41670	NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)	NF1 (T862S)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
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 457592	NM_001042492.3(NF1):c.2592C>T (p.Ser864=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +6 more	GLikely benign
Select item 404444	NM_001042492.3(NF1):c.2641A>G (p.Met881Val)	NF1 (M881V)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +6 more	GUncertain significance
Select item 68326	NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)	NF1 (L898P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
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 566843	NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)	NF1 (R914W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 184962	NM_001042492.3(NF1):c.2803A>C (p.Asn935His)	NF1 (N935H)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GUncertain significance
Select item 647632	NM_001042492.3(NF1):c.2851-6_2851-3del	NF1	Microsatellite (intron variant)	Cardiovascular phenotype +6 more	GPathogenic
Select item 233237	NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)	NF1 (I967V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 481878	NM_001042492.3(NF1):c.2916A>C (p.Leu972=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 363	NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	NF1 (M992del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 184057	NM_001042492.3(NF1):c.2985G>C (p.Leu995=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +8 more	GBenign/Likely benign
Select item 457613	NM_001042492.3(NF1):c.2991-1G>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +5 more	GPathogenic
Select item 186250	NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu)	NF1 (R1000L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 571610	NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)	NF1 (V1019I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 484108	NM_001042492.3(NF1):c.3197+3A>G	NF1	Single nucleotide variant (intron variant)	not provided +7 more	GUncertain significance
Select item 704588	NM_001042492.3(NF1):c.3198-4_3198-3dup	NF1	Duplication (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 428967	NM_001042492.3(NF1):c.3198-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, familial spinal +5 more	GPathogenic/Likely pathogenic
Select item 457642	NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)	NF1 (V1120A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 457643	NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)	NF1 (S1124N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 457644	NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)	NF1 (A1125V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 186480	NM_001042492.3(NF1):c.3375G>A (p.Ala1125=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GLikely benign
Select item 761989	NM_001042492.3(NF1):c.3441T>C (p.Leu1147=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +6 more	GLikely benign
Select item 457650	NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)	NF1 (M1149I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 231861	NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)	NF1 (S1164A)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +7 more	GUncertain significance
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 141747	NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)	NF1 (A1202S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity

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