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Links from MedGen

Items: 1 to 100 of 430

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOS1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 4
GUncertain significance
SOS1
(L46V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(M551I +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(P102L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GLikely pathogenic
SOS1
(S59G +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(H453R +1 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+1 more
GUncertain significance
SOS1
(Q559H +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(F991L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+1 more
GConflicting classifications of pathogenicity
SOS1
(D458F +1 more)
Indel
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(E947A +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GLikely benign
SOS1
(V142I +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GLikely pathogenic
SOS1
(V260A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SOS1
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SOS1
(Q970R +1 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+2 more
GUncertain significance
SOS1
(I915V +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+1 more
GUncertain significance
SOS1
(E583D +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SOS1
(Q39L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(Y330H +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GLikely pathogenic
SOS1
(P333H +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(R699K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
Single nucleotide variant
(intron variant)
Noonan syndrome 4
GUncertain significance
SOS1
(E174K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(I777T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
+3 more
GLikely benign
LOC129933535, SOS1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
LOC129933535, SOS1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
+3 more
GLikely benign
SOS1
(C831Y +1 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+3 more
GUncertain significance
SOS1
(I856T +1 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+4 more
GUncertain significance
SOS1
(R547Q +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GUncertain significance
SOS1
(E555D +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GUncertain significance
SOS1
(I809V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SOS1
(S187Y +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SOS1
(P1168A +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
SOS1
(I183T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+3 more
GUncertain significance
SOS1
(D880E +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
SOS1
Duplication
(intron variant)
RASopathy
+2 more
GUncertain significance
SOS1
(L790S +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GUncertain significance
SOS1
Single nucleotide variant
(intron variant)
RASopathy
+3 more
GUncertain significance
LOC129933535, SOS1
(A3S)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
SOS1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SOS1
(Y155C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+3 more
GUncertain significance
SOS1
(P1250S +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+3 more
GUncertain significance
SOS1
(M415I +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GUncertain significance
SOS1
(R241L +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(T1254R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SOS1
(E174D +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(P1222S +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+5 more
GUncertain significance
SOS1
(T193S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SOS1
(I422T +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+2 more
GUncertain significance
SOS1
(I638M +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
SOS1
(I1189V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SOS1
(D302N +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GLikely pathogenic
SOS1
(P1136S +2 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+3 more
GUncertain significance
SOS1
(D1111Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 4
GUncertain significance
SOS1
Single nucleotide variant
(synonymous variant)
Fibromatosis, gingival, 1
+3 more
GLikely benign
SOS1
(E557K +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SOS1
(L824V +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GUncertain significance
SOS1
(I656T +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+4 more
GUncertain significance
SOS1
(I438V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SOS1
(R779* +1 more)
Single nucleotide variant
(nonsense)
Noonan syndrome 4
+3 more
GUncertain significance
SOS1
(I245V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
+5 more
GBenign/Likely benign
SOS1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 4
+4 more
GLikely benign
LOC129933535, SOS1
Single nucleotide variant
(intron variant)
RASopathy
+3 more
GBenign/Likely benign
SOS1
(D423G +1 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+1 more
GUncertain significance
SOS1
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
SOS1
(N1231S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
SOS1
(S888N +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
SOS1
(P1221L +2 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
SOS1
(I654M +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
SOS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
LOC129933535, SOS1
(E13G)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
SOS1
(K428E +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
SOS1
(I245L +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GUncertain significance
SOS1
(G424S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SOS1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 4
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 4
+5 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
Fibromatosis, gingival, 1
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
Noonan syndrome 4
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
RASopathy
+3 more
GLikely benign
SOS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
SOS1
(I430N +1 more)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GLikely pathogenic
SOS1
(V1117I +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+2 more
GConflicting classifications of pathogenicity
SOS1
(Y1031C +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
LOC129933535, SOS1
(Y8F)
Single nucleotide variant
(missense variant +1 more)
Fibromatosis, gingival, 1
+2 more
GUncertain significance
SOS1
(E561K +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(M551V +1 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+3 more
GConflicting classifications of pathogenicity
SOS1
(T550I +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
+2 more
GUncertain significance
SOS1
(T713A +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SOS1
Single nucleotide variant
(intron variant)
RASopathy
+2 more
GUncertain significance
SOS1
(N529S +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(D1093Y +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 4
GUncertain significance
SOS1
(R1206T +2 more)
Single nucleotide variant
(missense variant)
Fibromatosis, gingival, 1
+3 more
GUncertain significance
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