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Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
BMAL1, BTBD10
+208 more
Copy number loss
See cases
GPathogenic
RRAS2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
RRAS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RRAS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RRAS2
(C122S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(K117R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RRAS2
(R191W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(P110R +2 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 12
GUncertain significance
RRAS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RRAS2
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
RRAS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RRAS2
(R173W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(M85V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RRAS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RRAS2
(V116I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(K115T +2 more)
Single nucleotide variant
(missense variant)
RRAS2-related disorder
+1 more
GUncertain significance
RRAS2
(R70Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(R147W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(T103S +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RRAS2
Single nucleotide variant
(intron variant)
RASopathy
GBenign
RRAS2
Single nucleotide variant
(intron variant)
not provided
GBenign
RRAS2
Duplication
(intron variant)
not provided
GBenign
RRAS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RRAS2
(M122L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(R40H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RRAS2
(R117C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(R117G +2 more)
Single nucleotide variant
(missense variant)
RRAS2-related disorder
GUncertain significance
RRAS2
(Q110H +2 more)
Single nucleotide variant
(missense variant)
RRAS2-related disorder
GUncertain significance
RRAS2
(K71N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(Y70C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RRAS2
Duplication
(intron variant)
not provided
GBenign
RRAS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RRAS2
Deletion
(intron variant)
not provided
GBenign
RRAS2
Single nucleotide variant
(intron variant)
not provided
GBenign
RRAS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RRAS2
(T19I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(L14M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
Single nucleotide variant
(synonymous variant)
RRAS2-related disorder
GLikely benign
RRAS2
(M48L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RRAS2
(M43L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RRAS2
(Q37L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Noonan syndrome
GPathogenic
RRAS2
(G36E +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely pathogenic
RRAS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RRAS2
(A35T +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
RASopathy
GLikely pathogenic
RRAS2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RRAS2
(I31V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
RRAS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RRAS2
(R28Q +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RRAS2
Single nucleotide variant
(5 prime UTR variant +1 more)
RRAS2-related disorder
GLikely benign
RRAS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RRAS2
(P45A +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RRAS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
RRAS2
(T41M +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
RRAS2-related disorder
+1 more
GUncertain significance
RRAS2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
RRAS2
(Q33H)
Single nucleotide variant
(missense variant +1 more)
RRAS2-related disorder
GUncertain significance
RRAS2
(Q33R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RRAS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
LOC130005368, RRAS2
Duplication
(inframe_insertion +1 more)
Noonan syndrome 12
+3 more
GPathogenic
LOC130005368, RRAS2
Duplication
(inframe_insertion +1 more)
not provided
GLikely pathogenic
LOC130005368, RRAS2
Duplication
(inframe_insertion +1 more)
Noonan syndrome
GPathogenic
LOC130005368, RRAS2
(G24D)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
LOC130005368, RRAS2
(G24V)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
LOC130005368, RRAS2
(G23D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
LOC130005368, RRAS2
(G23V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
LOC130005368, RRAS2
(G23S)
Single nucleotide variant
(missense variant +1 more)
RRAS2-related disorder
+1 more
GConflicting classifications of pathogenicity
LOC130005368, RRAS2
(G23C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC130005368, RRAS2
(V20A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130005368, RRAS2
(R16W)
Single nucleotide variant
(missense variant +1 more)
RRAS2-related disorder
GUncertain significance
LOC130005368, RRAS2
(G11D)
Single nucleotide variant
(missense variant +1 more)
RRAS2-related disorder
GUncertain significance
LOC130005368, RRAS2
Single nucleotide variant
(intron variant)
not provided
GBenign
RRAS2
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RRAS2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
RRAS2
Single nucleotide variant
not provided
GBenign
RRAS2
Deletion
not provided
GUncertain significance
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
RRAS2
Copy number loss
not provided
GUncertain significance
LDHA, SLC5A12
+67 more
Copy number gain
not provided
GPathogenic
DKK3, DNAJC24
+116 more
Copy number gain
not provided
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
PTH, RRAS2
+6 more
Copy number gain
not provided
GUncertain significance
ADM, AKIP1
+258 more
Copy number gain
not provided
GPathogenic
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ASCL3, CEND1
+305 more
Copy number gain
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
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