"Service de Génétique Moléculaire, Hôpital Robert Debré"[submitter] AN - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981576	NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)	PTPN11 (T22A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 40484	NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)	PTPN11 (T52I +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic FDA Recognized database
Select item 981577	NM_002834.5(PTPN11):c.171G>T (p.Gln57His)	PTPN11 (Q56H +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic
Select item 981578	NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)	PTPN11	Duplication (inframe_insertion)	Noonan syndrome	GLikely pathogenic
Select item 981579	NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)	PTPN11 (Y62del +1 more)	Deletion (inframe_deletion)	Noonan syndrome	GLikely pathogenic
Select item 44603	NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)	PTPN11 (K70R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 981580	NM_002834.5(PTPN11):c.265_269del (p.Lys89fs)	PTPN11 (K88fs +1 more)	Deletion (frameshift variant)	RASopathy	GPathogenic
Select item 978850	NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)	PTPN11 (D105G +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 981581	NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)	PTPN11 (S108P +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 40507	NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)	PTPN11 (E110K +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome +5 more	GPathogenic/Likely pathogenic
Select item 981582	NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)	PTPN11 (K128N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 44607	NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)	PTPN11 (K131R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 981583	NM_002834.5(PTPN11):c.395A>C (p.His132Pro)	PTPN11 (H131P +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 40514	NM_002834.5(PTPN11):c.455G>A (p.Arg152His)	PTPN11 (R152H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 181497	NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser)	PTPN11 (G163S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 164998	NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)	PTPN11 (N200Y +1 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GPathogenic/Likely pathogenic
Select item 981584	NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)	PTPN11 (I220M +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 280939	NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg)	PTPN11 (L261R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 372625	NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg)	PTPN11 (K276R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 40526	NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	PTPN11 (I282M +1 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic/Likely pathogenic
Select item 181499	NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)	PTPN11 (F285Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 981534	NM_002834.5(PTPN11):c.1402A>T (p.Thr468Ser)	PTPN11 (T467S +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 561751	NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile)	PTPN11 (V490I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 181503	NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)	PTPN11 (P491A +2 more)	Single nucleotide variant (missense variant)	Astrocytic tumor +4 more	GPathogenic/Likely pathogenic
Select item 981535	NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)	PTPN11 (S498F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981536	NM_002834.5(PTPN11):c.1500G>T (p.Gln500His)	PTPN11 (Q499H +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 981537	NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)	PTPN11 (Q509L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic
Select item 811634	NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)	PTPN11 (Q509H +2 more)	Single nucleotide variant (missense variant)	PTPN11-related disorder +3 more	GPathogenic
Select item 40570	NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)	PTPN11 (T553M +2 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database

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Items: 29