ClinVar for MedGen (Select 413028) - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1335888	NM_002524.5(NRAS):c.108A>G (p.Ile36Met)	NRAS (I36M)	Single nucleotide variant (missense variant)	Noonan syndrome 6	GLikely pathogenic
Select item 1334247	NM_002524.5(NRAS):c.179G>T (p.Gly60Val)	NRAS (G60V)	Single nucleotide variant (missense variant)	Noonan syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 1320232	NM_002524.5(NRAS):c.449A>G (p.Gln150Arg)	NRAS (Q150R)	Single nucleotide variant (missense variant)	Noonan syndrome 6	GLikely pathogenic
Select item 876331	NM_002524.5(NRAS):c.*1845T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876330	NM_002524.5(NRAS):c.*1887T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876329	NM_002524.5(NRAS):c.*1914A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876328	NM_002524.5(NRAS):c.*1936C>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876327	NM_002524.5(NRAS):c.*1974T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876283	NM_002524.5(NRAS):c.*3020A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876282	NM_002524.5(NRAS):c.*3103G>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876281	NM_002524.5(NRAS):c.*3306A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 876280	NM_002524.5(NRAS):c.*3341A>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876279	NM_002524.5(NRAS):c.*3362T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876240	NM_002524.5(NRAS):c.112-6C>G	NRAS	Single nucleotide variant (intron variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 876239	NM_002524.5(NRAS):c.*340G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876190	NM_002524.5(NRAS):c.*2188C>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876189	NM_002524.5(NRAS):c.*2226G>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876188	NM_002524.5(NRAS):c.*2328G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876187	NM_002524.5(NRAS):c.*2412G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876186	NM_002524.5(NRAS):c.*2517A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 876142	NM_002524.5(NRAS):c.*3430T>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 876141	NM_002524.5(NRAS):c.*3500G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 875280	NM_002524.5(NRAS):c.*651C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 875279	NM_002524.5(NRAS):c.*687A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 875229	NM_002524.5(NRAS):c.*2523A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 875228	NM_002524.5(NRAS):c.*2589G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 875227	NM_002524.5(NRAS):c.*2618A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874360	NM_002524.5(NRAS):c.*1105C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874359	NM_002524.5(NRAS):c.*1466A>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874358	NM_002524.5(NRAS):c.*1509A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874357	NM_002524.5(NRAS):c.*1571A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874356	NM_002524.5(NRAS):c.*1629C>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874296	NM_002524.5(NRAS):c.*2767C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874295	NM_002524.5(NRAS):c.*2811C>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 874294	NM_002524.5(NRAS):c.*2816T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 477662	NM_002524.5(NRAS):c.25G>A (p.Val9Ile)	NRAS (V9I)	Single nucleotide variant (missense variant)	RASopathy +8 more	GUncertain significance
Select item 424299	NM_002524.5(NRAS):c.250A>G (p.Ile84Val)	NRAS (I84V)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 380330	NM_002524.5(NRAS):c.36T>G (p.Gly12=)	NRAS	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 291977	NM_002524.5(NRAS):c.-106G>T	LOC129931249, NRAS	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291976	NM_002524.5(NRAS):c.380C>G (p.Thr127Arg)	NRAS (T127R)	Single nucleotide variant (missense variant)	Noonan syndrome 6 +1 more	GUncertain significance
Select item 291975	NM_002524.5(NRAS):c.*111A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 291974	NM_002524.5(NRAS):c.*344A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291973	NM_002524.5(NRAS):c.*346G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 291972	NM_002524.5(NRAS):c.*416A>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291971	NM_002524.5(NRAS):c.*536C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291970	NM_002524.5(NRAS):c.*583T>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291969	NM_002524.5(NRAS):c.*740G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 291968	NM_002524.5(NRAS):c.*774A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291967	NM_002524.5(NRAS):c.*872C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 291964	NM_002524.5(NRAS):c.*1382G>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291963	NM_002524.5(NRAS):c.*1643G>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291962	NM_002524.5(NRAS):c.*1656C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291961	NM_002524.5(NRAS):c.*2178G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291960	NM_002524.5(NRAS):c.*2327C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291959	NM_002524.5(NRAS):c.*2464A>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291958	NM_002524.5(NRAS):c.*2513T>A	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291956	NM_002524.5(NRAS):c.*2546C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291955	NM_002524.5(NRAS):c.*2630G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291954	NM_002524.5(NRAS):c.*2662G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 291953	NM_002524.5(NRAS):c.*2667T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 291952	NM_002524.5(NRAS):c.*2677A>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291951	NM_002524.5(NRAS):c.*2714G>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291950	NM_002524.5(NRAS):c.*2784T>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291949	NM_002524.5(NRAS):c.*2805T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291948	NM_002524.5(NRAS):c.*2844T>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291947	NM_002524.5(NRAS):c.*2860G>A	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291945	NM_002524.5(NRAS):c.*3062C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291944	NM_002524.5(NRAS):c.*3219C>G	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291943	NM_002524.5(NRAS):c.*3366G>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 291942	NM_002524.5(NRAS):c.*3384C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GBenign
Select item 291941	NM_002524.5(NRAS):c.*3392T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291940	NM_002524.5(NRAS):c.*3404T>C	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GUncertain significance
Select item 291939	NM_002524.5(NRAS):c.*3499C>T	NRAS	Single nucleotide variant (3 prime UTR variant)	Noonan syndrome 6	GLikely benign
Select item 280409	NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	NRAS (Q61P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 211686	NM_002524.5(NRAS):c.317C>T (p.Ser106Leu)	NRAS (S106L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 179025	NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)	NRAS (P185S)	Single nucleotide variant (missense variant)	NRAS-related condition +3 more	GConflicting classifications of pathogenicity
Select item 178104	NM_002524.5(NRAS):c.225C>T (p.Gly75=)	NRAS	Single nucleotide variant (synonymous variant)	RASopathy +5 more	GBenign/Likely benign
Select item 177778	NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	NRAS (G12S)	Single nucleotide variant (missense variant)	Noonan syndrome 6 +3 more	GPathogenic
Select item 138539	NM_002524.5(NRAS):c.-50A>G	LOC129931249, NRAS	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 138538	NM_002524.5(NRAS):c.112-8A>G	NRAS	Single nucleotide variant (intron variant)	Noonan syndrome 6 +5 more	GConflicting classifications of pathogenicity
Select item 40476	NM_002524.5(NRAS):c.360G>A (p.Leu120=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 40473	NM_002524.5(NRAS):c.175G>A (p.Ala59Thr)	NRAS (A59T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 40469	NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	NRAS (G12R)	Single nucleotide variant (missense variant)	Noonan syndrome 6 +2 more	GPathogenic
Select item 39648	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS (G12D)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 13903	NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)	NRAS (G60E)	Single nucleotide variant (missense variant)	NRAS-related condition +3 more	GPathogenic
Select item 13902	NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)	NRAS (T50I)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic
Select item 13901	NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	NRAS (G13D)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia in down syndrome +2 more	GPathogenic/Likely pathogenic
Select item 13900	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS (Q61R)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +3 more	GConflicting classifications of pathogenicity
Select item 13899	NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	NRAS (G13R)	Single nucleotide variant (missense variant)	Noonan syndrome 6	GLikely pathogenic

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Items: 89