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

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 31