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Links from MedGen

Items: 1 to 100 of 263

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(D92V +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(R201H +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(M187T +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(I345V +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(V391M +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(M308T +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(R335S +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(S337T +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(M468V +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
+7 more
GUncertain significance
FGFR1
(L353V +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(H496Q +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(K505T +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GLikely pathogenic
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(H713R +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(Q652R +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(Q795H +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
(M678I +7 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(T783M +7 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(P795S +7 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR2
(M15L)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(T40I)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(V51M)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(L79W)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(N83I)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(M186V +2 more)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+11 more
GConflicting classifications of pathogenicity
FGFR2
(I115V +2 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(I250M +1 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(M172I +6 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(L190V +6 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(R421H +6 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(S207G +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(T214I +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(P215R +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(S335F +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(D339G +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(P456T +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(A394S +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(M386V +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(E408G +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(V411M +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(N425H +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
Single nucleotide variant
(intron variant)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(P628L +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(R631I +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(T521M +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(V637I +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(R531Q +9 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(P576L +8 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR2
(R102W +3 more)
Single nucleotide variant
(missense variant +2 more)
Craniosynostosis syndrome
+11 more
GUncertain significance
FGFR2
(P23H)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+10 more
GUncertain significance
FGFR1
(Y683fs +7 more)
Deletion
(frameshift variant +1 more)
Jackson-Weiss syndrome
GUncertain significance
FGFR2
(Y147F +6 more)
Single nucleotide variant
(missense variant +2 more)
Gastric cancer
+10 more
GConflicting classifications of pathogenicity
FGFR2
(A200T +3 more)
Single nucleotide variant
(missense variant +2 more)
Gastric cancer
+11 more
GConflicting classifications of pathogenicity
FGFR2
(D321E +3 more)
Single nucleotide variant
(missense variant +2 more)
FGFR2-related craniosynostosis
+11 more
GConflicting classifications of pathogenicity
FGFR1
(D125E +3 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR1
(R799* +7 more)
Single nucleotide variant
(nonsense +1 more)
Pfeiffer syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR1
(E501G +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR1
(E714K +7 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR1
(N57S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GBenign/Likely benign
FGFR1
(V71M +2 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR2
(G74R +3 more)
Single nucleotide variant
(missense variant +2 more)
Bent bone dysplasia syndrome 1
+11 more
GUncertain significance
FGFR2
Single nucleotide variant
(synonymous variant +2 more)
FGFR2-related craniosynostosis
+11 more
GConflicting classifications of pathogenicity
FGFR2
(K634Q +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+12 more
GUncertain significance
FGFR2
(V687I +9 more)
Single nucleotide variant
(missense variant +1 more)
Crouzon syndrome
+12 more
GUncertain significance
FGFR1
(S358Y +7 more)
Single nucleotide variant
(missense variant)
FGFR1-related disorder
+8 more
GUncertain significance
FGFR1
(G146D +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GPathogenic/Likely pathogenic
FGFR1
(T115R +2 more)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 1
+7 more
GUncertain significance
FGFR2
(M321T +9 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+11 more
GUncertain significance
FGFR2
(P261S +6 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+11 more
GUncertain significance
FGFR1
(D69N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+7 more
GUncertain significance
FGFR2
(R89C +2 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+11 more
GUncertain significance
FGFR2
(P54S)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+12 more
GUncertain significance
FGFR2
(G182W +2 more)
Single nucleotide variant
(missense variant +1 more)
Bent bone dysplasia syndrome 1
+12 more
GUncertain significance
FGFR1
(R817C +7 more)
Single nucleotide variant
(missense variant +1 more)
Osteoglophonic dysplasia
+6 more
GUncertain significance
FGFR2
(E48A)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+11 more
GUncertain significance
FGFR2
(T98M)
Single nucleotide variant
(missense variant +1 more)
not provided
+12 more
GUncertain significance
FGFR1
(G610S +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GConflicting classifications of pathogenicity
FGFR1
(A86E +2 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR2
(V381I +9 more)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+11 more
GUncertain significance
FGFR2
(V86G)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+11 more
GUncertain significance
FGFR1
(D691N +7 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR2
(T331A +9 more)
Single nucleotide variant
(missense variant +1 more)
FGFR2-related craniosynostosis
+12 more
GUncertain significance
FGFR2
(N318T +9 more)
Single nucleotide variant
(missense variant +1 more)
Acrocephalosyndactyly type I
+11 more
GUncertain significance
FGFR1
(S36N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
FGFR2
Single nucleotide variant
(intron variant)
Acrocephalosyndactyly type I
+11 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GLikely benign
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