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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NRAS
(V9I)
Single nucleotide variant
(missense variant)
Linear nevus sebaceous syndrome
+8 more
GUncertain significance
PIK3CA
(V146I)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+14 more
GUncertain significance
PIK3CA
(N345K)
Single nucleotide variant
(missense variant)
Congenital macrodactylia
+14 more
GPathogenic
PIK3CA
(P377R)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+14 more
GUncertain significance
PIK3CA
(K884R)
Single nucleotide variant
(missense variant)
not specified
+16 more
GUncertain significance
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
not provided
+18 more
GPathogenic
FGFR3
(P62S)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related disorder
+14 more
GUncertain significance
FGFR3
(G67D)
Single nucleotide variant
(missense variant +1 more)
not provided
+14 more
GConflicting classifications of pathogenicity
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
Achondroplasia
+16 more
GBenign/Likely benign
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
Epidermal nevus
+31 more
GPathogenic
FGFR3
(S249C)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+17 more
GPathogenic
OOncogenic
FGFR3
(P250R)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+26 more
GPathogenic/Likely pathogenic
FGFR3
(G380R +1 more)
Single nucleotide variant
(missense variant +2 more)
Connective tissue disorder
+18 more
GPathogenic/Likely pathogenic
FGFR3
(F384L +1 more)
Single nucleotide variant
(missense variant +2 more)
Achondroplasia
+16 more
GBenign/Likely benign
FGFR3
(L419F +1 more)
Single nucleotide variant
(missense variant +2 more)
Achondroplasia
+14 more
GUncertain significance
FGFR3
(V311L +3 more)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+15 more
GUncertain significance
FGFR3
(D404G +3 more)
Single nucleotide variant
(missense variant +1 more)
Crouzon syndrome-acanthosis nigricans syndrome
+14 more
GUncertain significance
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+18 more
GPathogenic/Likely pathogenic
FGFR3
(P461L +3 more)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+14 more
GUncertain significance
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
Achondroplasia
+15 more
GConflicting classifications of pathogenicity
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
Achondroplasia
+14 more
GBenign/Likely benign
FGFR3
(K537R +3 more)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+14 more
GUncertain significance
FGFR3
(K650T +3 more)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related disorder
+16 more
GPathogenic
FGFR3
(K650M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+14 more
GPathogenic
FGFR3
(K650N +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypochondroplasia
+14 more
GPathogenic/Likely pathogenic
FGFR3
Single nucleotide variant
(intron variant)
not provided
+14 more
GBenign/Likely benign
FGFR3
Single nucleotide variant
(intron variant)
Achondroplasia
+14 more
GBenign/Likely benign
FGFR3
(A667S +3 more)
Single nucleotide variant
(missense variant +2 more)
Achondroplasia
+14 more
GUncertain significance
FGFR3
(N718S +3 more)
Single nucleotide variant
(missense variant +2 more)
Achondroplasia
+15 more
GConflicting classifications of pathogenicity
FGFR3
(A782V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+15 more
GUncertain significance
FGFR3
(V784E)
Single nucleotide variant
(stop lost +2 more)
Achondroplasia
+14 more
GPathogenic
FGFR3
Single nucleotide variant
(stop lost +2 more)
Achondroplasia
+14 more
GPathogenic
HRAS, LRRC56
(P174S +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(K170* +1 more)
Single nucleotide variant
(nonsense +1 more)
Costello syndrome
GUncertain significance
HRAS, LRRC56
(R169Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Large congenital melanocytic nevus
+8 more
GUncertain significance
HRAS, LRRC56
(R169W +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+7 more
GUncertain significance
HRAS, LRRC56
(R164P +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
+5 more
GUncertain significance
HRAS, LRRC56
(R161C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
HRAS, LRRC56
(T31P +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
HRAS, LRRC56
(T13I)
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
GBenign
HRAS, LRRC56
(P4L)
Single nucleotide variant
(synonymous variant +1 more)
Noonan syndrome and Noonan-related syndrome
+8 more
GBenign/Likely benign
HRAS, LRRC56
Single nucleotide variant
(intron variant)
RASopathy
GBenign
HRAS, LRRC56
(G13D)
Single nucleotide variant
(missense variant +1 more)
not provided
+10 more
GPathogenic
HRAS, LRRC56
(G13C)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
GPathogenic
HRAS, LRRC56
(G12A)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+8 more
GPathogenic
HRAS, LRRC56
(G12C)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic
HRAS, LRRC56
(Y4C)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
+6 more
GUncertain significance
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