C0027831[trait identifier] AND "Greenwood Genetic Center Diagnostic La - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68328	NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)	NF1 (C93Y)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GPathogenic/Likely pathogenic
Select item 977199	NM_001042492.3(NF1):c.487G>T (p.Glu163Ter)	NF1 (E163*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 185021	NM_001042492.3(NF1):c.499_502del (p.Cys167fs)	NF1 (C167fs)	Microsatellite (frameshift variant)	Neurofibromatosis, type 1 +5 more	GPathogenic
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	See cases +8 more	GPathogenic
Select item 664551	NM_001042492.3(NF1):c.888+789A>G	NF1	Single nucleotide variant (intron variant)	NF1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 429014	NM_001042492.3(NF1):c.1393-1G>T	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 431592	NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)	NF1 (L529F)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1454369	NM_001042492.3(NF1):c.1658A>C (p.His553Pro)	NF1 (H553P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 1703146	NM_001042492.3(NF1):c.1679del (p.Leu560fs)	NF1 (L560fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457545	NM_001042492.3(NF1):c.1721+1G>A	NF1	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 374108	NM_001042492.3(NF1):c.1721+3A>G	NF1 (Y575C)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic
Select item 186215	NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	NF1	Deletion (frameshift variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 184278	NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)	NF1 (G663R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
Select item 188280	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1 (R681*)	Single nucleotide variant (nonsense)	Cafe-au-lait spot +8 more	GPathogenic
Select item 68318	NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)	NF1 (W784R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Neurofibromatosis, familial spinal +13 more	GPathogenic
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 345	NM_001042492.3(NF1):c.3113+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic
Select item 2813692	NM_001042492.3(NF1):c.3424del (p.Arg1142fs)	NF1 (R1142fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 660819	NM_001042492.3(NF1):c.3446T>C (p.Met1149Thr)	NF1 (M1149T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic
Select item 649604	NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)	NF1 (G1190S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1334714	NM_001042492.3(NF1):c.3796_3797del (p.Glu1266fs)	NF1 (E1266fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 429006	NM_001042492.3(NF1):c.4262C>G (p.Pro1421Arg)	NF1 (P1400R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 449427	NM_001042492.3(NF1):c.4333-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 547644	NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del)	NF1 (K1436del +1 more)	Deletion (inframe_deletion)	Neurofibromatosis-Noonan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 457697	NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)	NF1 (M1440L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 846370	NM_001042492.3(NF1):c.4577+2dup	NF1	Duplication (splice donor variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 2626870	NM_001042492.3(NF1):c.4611_4612del (p.Asp1537fs)	NF1 (D1516fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 431652	NM_001042492.3(NF1):c.5062G>T (p.Glu1688Ter)	NF1 (E1667* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 216406	NM_001042492.3(NF1):c.5072A>G (p.Lys1691Arg)	NF1 (K1670R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 208853	NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	NF1 (R1809C +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +11 more	GConflicting classifications of pathogenicity
Select item 852822	NM_001042492.3(NF1):c.5785G>T (p.Glu1929Ter)	NF1 (E1908* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 185082	NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	NF1 (Y2264* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +7 more	GPathogenic
Select item 373973	NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)	NF1 (Q2281* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 527441	NM_001042492.3(NF1):c.7161C>G (p.Asn2387Lys)	NF1 (N2387K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 230467	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1 (R2496* +1 more)	Single nucleotide variant (nonsense)	not specified +9 more	GPathogenic
Select item 1076106	NM_001042492.3(NF1):c.7666dup (p.Arg2556fs)	NF1 (R2535fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 428968	NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter)	NF1 (S2566* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 184261	NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	NF1 (R2616* +1 more)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 404544	NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)	NF1 (Y2619* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 237601	NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)	NF1 (P2634S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

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Items: 42