"Clinical Genetics, Academic Medical Center"[submitter] AND "SOS1"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40716	NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)	SOS1 (N1011S +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40713	NM_005633.4(SOS1):c.2988G>A (p.Pro996=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 45353	NM_005633.4(SOS1):c.2673+14T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 811247	NM_005633.4(SOS1):c.2167+16dup	SOS1	Duplication (intron variant)	RASopathy +3 more	GBenign
Select item 45350	NM_005633.4(SOS1):c.2167+6T>G	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40692	NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)	SOS1 (P655L +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 139235	NM_005633.4(SOS1):c.1203-20T>C	SOS1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 45343	NM_005633.4(SOS1):c.1074+5G>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40655	NM_005633.4(SOS1):c.570C>T (p.Asp190=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 139234	NM_005633.4(SOS1):c.345+15C>T	SOS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 40643	NM_005633.4(SOS1):c.195A>C (p.Arg65=)	SOS1	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database