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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR3
(P461L +3 more)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+14 more
GUncertain significance
FGFR3
(P62S)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+14 more
GUncertain significance
FGFR3
Single nucleotide variant
(intron variant)
Achondroplasia
+14 more
GBenign/Likely benign
FGFR3
(K537R +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
(V311L +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+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
(L419F +1 more)
Single nucleotide variant
(missense variant +2 more)
Crouzon syndrome-acanthosis nigricans syndrome
+14 more
GUncertain significance
FGFR3
Single nucleotide variant
(intron variant)
Cervical cancer
GUncertain significance
FGFR3
(A782V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+15 more
GUncertain significance
FGFR3
(G67D)
Single nucleotide variant
(missense variant +1 more)
Achondroplasia
+15 more
GConflicting classifications of pathogenicity
FGFR3
(N718S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+15 more
GConflicting classifications of pathogenicity
FGFR3
(A667S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+14 more
GUncertain significance
FGFR3
Single nucleotide variant
(intron variant)
Achondroplasia
+14 more
GBenign/Likely benign
FGFR3
(G380R +3 more)
Single nucleotide variant
(missense variant +2 more)
Achondroplasia
GPathogenic
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+16 more
GBenign/Likely benign
FGFR3
(F384L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+16 more
GBenign/Likely benign
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+14 more
GBenign/Likely benign
BRIP1
(N196S)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
FGFR3
(K650T +3 more)
Single nucleotide variant
(missense variant +1 more)
Crouzon syndrome-acanthosis nigricans syndrome
+15 more
GPathogenic
FGFR3
Single nucleotide variant
(stop lost +2 more)
Crouzon syndrome-acanthosis nigricans syndrome
+14 more
GPathogenic
FGFR3
(K650N +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypochondroplasia
+14 more
GPathogenic/Likely pathogenic
FGFR3
(K650M +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypochondroplasia
+14 more
GPathogenic
FGFR3
(P250R)
Single nucleotide variant
(missense variant +1 more)
Hypochondroplasia
+26 more
GPathogenic/Likely pathogenic
FGFR3
(S249C)
Single nucleotide variant
(missense variant +1 more)
not provided
+17 more
GPathogenic
OOncogenic
FGFR3
(N540K +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+18 more
GPathogenic/Likely pathogenic
FGFR3
(V784E)
Single nucleotide variant
(stop lost +2 more)
not provided
+14 more
GPathogenic
FGFR3
(R248C)
Single nucleotide variant
(missense variant +1 more)
FGFR3-related disorder
+31 more
GPathogenic
FGFR3
(G380R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+18 more
GPathogenic
TP53
(R249S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
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