C0553586[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 545745	NM_001042492.3(NF1):c.1020dup (p.Val341fs)	NF1 (V341fs)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
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 354	NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	NF1 (Y489C)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
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 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 527423	NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)	NF1 (R720Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
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 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +13 more	GPathogenic
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 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 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 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 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 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 457668	NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)	NF1 (M1260T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 185777	NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)	NF1 (T1295A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 234185	NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)	NF1 (S1352T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 824568	NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr)	NF1 (P1359T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 219424	NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)	NF1 (R1396H +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +7 more	GUncertain significance
Select item 141448	NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)	NF1 (S1386G +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +8 more	GUncertain significance
Select item 336	NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	NF1 (K1423E +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +12 more	GPathogenic
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 232946	NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)	NF1 (S1449N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 229884	NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)	NF1 (N1450S +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
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 208853	NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	NF1 (R1809C +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +10 more	GPathogenic
Select item 185354	NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	NF1 (R1849Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 484003	NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)	NF1 (S1889C +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +7 more	GUncertain significance
Select item 343	NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)	NF1 (R1947* +1 more)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic OLikely oncogenic
Select item 185248	NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)	NF1 (R2237Q +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
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 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 580678	NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)	NF1 (L2316F +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +6 more	GUncertain significance
Select item 648933	NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)	NF1 (R2364W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 186986	NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)	NF1 (S2475C +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 230467	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1 (R2496* +1 more)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +9 more	GPathogenic
Select item 141997	NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)	NF1 (Q2568H +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +6 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 68363	NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)	NF1 (T2610A +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +7 more	GUncertain significance
Select item 184261	NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	NF1 (R2616* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +8 more	GPathogenic/Likely pathogenic
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

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Items: 43