C0028326[trait identifier] AND "Service de Génétique Moléculaire, Hôpi - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 179025	NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)	NRAS (P185S)	Single nucleotide variant (missense variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 981573	NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)	NRAS (E153K)	Single nucleotide variant (missense variant)	Noonan syndrome 6	GUncertain significance
Select item 981572	NM_002524.5(NRAS):c.443C>T (p.Thr148Ile)	NRAS (T148I)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981556	NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)	NRAS (R68S)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic
Select item 812886	NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)	NRAS (A59D)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GLikely pathogenic
Select item 981605	NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)	RIT1 (R105C +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 60509	NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	RIT1 (G95A +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +5 more	GPathogenic
Select item 561681	NM_006912.6(RIT1):c.268A>G (p.Met90Val)	RIT1 (M90V +2 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 183411	NM_006912.6(RIT1):c.265T>C (p.Tyr89His)	RIT1 (Y89H +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +2 more	GPathogenic
Select item 183410	NM_006912.6(RIT1):c.251C>T (p.Ala84Val)	RIT1 (A84V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 183409	NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	RIT1 (T83P +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 181522	NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	RIT1 (F82L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +7 more	GPathogenic/Likely pathogenic
Select item 183408	NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	RIT1 (F82V +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 183407	NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)	RIT1 (F82L +2 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic
Select item 183406	NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)	RIT1 (F82I +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GPathogenic
Select item 183405	NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	RIT1 (E81G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 183404	NM_006912.6(RIT1):c.241G>C (p.Glu81Gln)	RIT1 (E81Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GPathogenic OLikely oncogenic
Select item 981604	NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)	RIT1 (Q43E +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GLikely pathogenic
Select item 183403	NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)	RIT1 (A77T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 60506	NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	RIT1 (A57G +2 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic
Select item 981603	NM_006912.6(RIT1):c.152A>T (p.Asp51Val)	RIT1 (D15V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 183402	NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr)	RIT1 (D51Y +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 981602	NM_006912.6(RIT1):c.131A>T (p.His44Leu)	RIT1 (H44L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981601	NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)	RIT1 (T2N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GLikely pathogenic
Select item 183401	NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)	RIT1 (S35T +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +3 more	GPathogenic
Select item 981574	NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)	PPP1CB (L11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254648	NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	PPP1CB (P49R)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 981575	NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)	PPP1CB (M182V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 974912	NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)	PPP1CB (M182K)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 2 +1 more	GConflicting classifications of pathogenicity
Select item 572542	NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)	SOS1 (T1279I +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 336015	NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)	SOS1 (P1237A +2 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GConflicting classifications of pathogenicity
Select item 280523	NM_005633.4(SOS1):c.3697C>A (p.Leu1233Ile)	SOS1 (L1233I +2 more)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 1 +3 more	GUncertain significance
Select item 561724	NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr)	SOS1 (S1066T +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 981586	NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)	SOS1 (E896A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 40702	NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile)	SOS1 (L791I +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 981585	NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)	SOS1 (K721T +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 543974	NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)	SOS1 (I610T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 981571	NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)	SOS1	Deletion (inframe_deletion)	Noonan syndrome	GLikely pathogenic
Select item 981570	NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)	SOS1 (D548N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 40679	NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg)	SOS1 (S548R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 499441	NM_005633.4(SOS1):c.1528T>C (p.Tyr510His)	SOS1 (Y510H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981569	NM_005633.4(SOS1):c.1522A>G (p.Asn508Asp)	SOS1 (N501D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981568	NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)	SOS1 (K486E +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic
Select item 981567	NM_005633.4(SOS1):c.1422T>A (p.Asn474Lys)	SOS1 (N467K +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 981566	NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)	SOS1 (I462F +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 981565	NM_005633.4(SOS1):c.1403T>C (p.Met468Thr)	SOS1 (M461T +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 981564	NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)	SOS1 (F457S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 181551	NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser)	SOS1 (I437S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 981563	NM_005633.4(SOS1):c.1250T>C (p.Leu417Pro)	SOS1 (L410P +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 981562	NM_005633.4(SOS1):c.1175C>G (p.Ser392Cys)	SOS1 (S385C +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 981561	NM_005633.4(SOS1):c.836T>C (p.Val279Ala)	SOS1 (V272A +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981560	NM_005633.4(SOS1):c.809C>G (p.Thr270Arg)	SOS1 (T263R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981559	NM_005633.4(SOS1):c.805A>G (p.Met269Val)	SOS1 (M262V +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 981558	NM_005633.4(SOS1):c.797_799del (p.Thr266_Val267delinsIle)	SOS1	Deletion (inframe_indel)	Noonan syndrome	GUncertain significance
Select item 40660	NM_005633.4(SOS1):c.749T>C (p.Val250Ala)	SOS1 (V250A +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 197778	NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)	SOS1 (N233S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 981557	NM_005633.4(SOS1):c.608A>G (p.Asp203Gly)	SOS1 (D196G +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 448945	NM_005633.4(SOS1):c.280A>G (p.Ile94Val)	SOS1 (I94V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40648	NM_005633.4(SOS1):c.253T>C (p.Trp85Arg)	SOS1 (W85R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
Select item 45351	NM_005633.4(SOS1):c.244A>G (p.Ile82Val)	SOS1 (I82V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1210167	NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter)	SPRED2 (R60* +1 more)	Single nucleotide variant (nonsense)	Noonan syndrome 14 +1 more	GPathogenic
Select item 546285	NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe)	RAF1 (L489F +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 981600	NM_002880.4(RAF1):c.1466T>C (p.Leu489Ser)	RAF1 (L375S +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 981599	NM_002880.4(RAF1):c.1432G>A (p.Glu478Lys)	RAF1 (E364K +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GUncertain significance
Select item 40617	NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)	RAF1 (F475L +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN +4 more	GPathogenic/Likely pathogenic
Select item 981598	NM_002880.4(RAF1):c.1418A>G (p.Asn473Ser)	RAF1 (N359S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 155829	NM_002880.4(RAF1):c.1172G>T (p.Arg391Met)	RAF1 (R391M +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GConflicting classifications of pathogenicity
Select item 181509	NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn)	RAF1 (D381N +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 981541	NM_002880.4(RAF1):c.1079T>C (p.Phe360Ser)	RAF1 (F246S +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 263589	NM_002880.4(RAF1):c.853A>G (p.Ser285Gly)	RAF1 (S285G +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 860864	NM_002880.4(RAF1):c.784A>C (p.Asn262His)	RAF1 (N262H +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 981540	NM_002880.4(RAF1):c.775_778delinsAGGG (p.Ser259_Thr260delinsArgAla)	RAF1	Indel (missense variant +1 more)	Noonan syndrome	GLikely pathogenic
Select item 44633	NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	RAF1 (S259Y +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GPathogenic FDA Recognized database
Select item 228288	NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)	RAF1 (S259P +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 981539	NM_002880.4(RAF1):c.767G>C (p.Arg256Thr)	RAF1 (R142T +3 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GUncertain significance
Select item 44631	NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)	RAF1 (R256G +3 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GPathogenic/Likely pathogenic
Select item 40594	NM_002880.4(RAF1):c.524A>G (p.His175Arg)	RAF1 (H175R +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 265535	NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)	RAF1 (G169R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 561729	NM_002880.4(RAF1):c.445C>T (p.Leu149Phe)	RAF1 (L149F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 280524	NM_002880.4(RAF1):c.293T>C (p.Val98Ala)	RAF1 (V98A)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 981538	NM_002880.4(RAF1):c.220A>G (p.Asn74Asp)	RAF1 (N74D)	Single nucleotide variant (missense variant +2 more)	Noonan syndrome	GLikely benign
Select item 40586	NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)	RAF1 (R41Q)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 561696	NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)	BRAF (P731S +7 more)	Single nucleotide variant (missense variant +1 more)	Cardiofaciocutaneous syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 981546	NM_004333.6(BRAF):c.2161T>G (p.Leu721Val)	BRAF (L633V +7 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GUncertain significance
Select item 162795	NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)	BRAF (A712D +7 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 7 +8 more	GPathogenic/Likely pathogenic
Select item 40388	NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)	BRAF (T599I +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 981545	NM_004333.6(BRAF):c.1740T>C (p.Asn580=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome	GUncertain significance
Select item 945231	NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)	BRAF (L545V +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 40375	NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe)	BRAF (L505F +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 40373	NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala)	BRAF (E501A +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 177844	NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	BRAF (L485F +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 44804	NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg)	BRAF (T470R +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 13964	NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	BRAF (G464E +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 691718	NM_004333.6(BRAF):c.1205C>A (p.Pro402His)	BRAF (P402H +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +10 more	GUncertain significance
Select item 424419	NM_004333.6(BRAF):c.977T>C (p.Ile326Thr)	BRAF (I326T +4 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 44832	NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)	BRAF (G265R +4 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 44831	NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)	BRAF (Q262P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +2 more	GPathogenic/Likely pathogenic
Select item 55793	NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)	BRAF (F247L +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 180784	NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	BRAF (F247L +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 44830	NM_004333.6(BRAF):c.739T>G (p.Phe247Val)	BRAF (F247V +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database

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