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Links from MedGen

Items: 1 to 100 of 215

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
(S36N +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pfeiffer syndrome
+7 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Trigonocephaly 1
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(intron 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
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Osteoglophonic dysplasia
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Osteoglophonic dysplasia
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Encephalocraniocutaneous lipomatosis
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hartsfield-Bixler-Demyer syndrome
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+6 more
GLikely benign
FGFR1
(V427I +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GConflicting classifications of pathogenicity
FGFR1
(V108I +2 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+7 more
GUncertain significance
FGFR1
(D119E +3 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(R181H +5 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR1
(P372S +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(R58Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Osteoglophonic dysplasia
+6 more
GUncertain significance
FGFR1
(R663H +7 more)
Single nucleotide variant
(missense variant)
Trigonocephaly 1
+6 more
GUncertain significance
FGFR1
(L7R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(R643W +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(V658M +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(E782fs +6 more)
Deletion
(frameshift variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
(E478K +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR1
(A427T +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+3 more
GUncertain significance
FGFR1
(Q682E +6 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
(R352W +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+8 more
GUncertain significance
FGFR1
(P148S +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
FGFR1
(R716Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Encephalocraniocutaneous lipomatosis
+7 more
GConflicting classifications of pathogenicity
FGFR1
(H717Y +6 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+7 more
GConflicting classifications of pathogenicity
FGFR1
(R483Q +7 more)
Single nucleotide variant
(missense variant)
Encephalocraniocutaneous lipomatosis
+7 more
GUncertain significance
FGFR1
(A245T +5 more)
Single nucleotide variant
(missense variant)
Trigonocephaly 1
+1 more
GUncertain significance
FGFR1
(Y289C +5 more)
Single nucleotide variant
(missense variant)
Jackson-Weiss syndrome
+7 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant +1 more)
Pfeiffer syndrome
+7 more
GConflicting classifications of pathogenicity
FGFR1
(R377C +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
(P390S +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
(R22S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hartsfield-Bixler-Demyer syndrome
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GLikely benign
FGFR1
(K195R +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(V350I +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(R691W +6 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(T133R +3 more)
Single nucleotide variant
(missense variant)
Jackson-Weiss syndrome
+6 more
GUncertain significance
FGFR1
(G406R +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(N110K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
(T144I +2 more)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 1
+6 more
GUncertain significance
FGFR1
(R448W +7 more)
Single nucleotide variant
(missense variant)
FGFR1-related disorder
+7 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Trigonocephaly 1
+4 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(intron variant)
Trigonocephaly 1
+5 more
GBenign/Likely benign
FGFR1
(V758M +7 more)
Single nucleotide variant
(missense variant)
Trigonocephaly 1
+5 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
LOC102723716, FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
(T770M +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC130000232
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC130000232
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
(V125M +2 more)
Single nucleotide variant
(missense variant +1 more)
Craniosynostosis syndrome
+5 more
GConflicting classifications of pathogenicity
FGFR1
(P420A +5 more)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1, LOC102723716
(K691N +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1, LOC102723716
(P704R +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC130000233
Single nucleotide variant
(5 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
(P56L +1 more)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 1
+5 more
GConflicting classifications of pathogenicity
FGFR1
(R586P +7 more)
Single nucleotide variant
(missense variant)
Trigonocephaly 1
+5 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(intron variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
(P707L +6 more)
Single nucleotide variant
(missense variant +1 more)
Trigonocephaly 1
+4 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+7 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Trigonocephaly 1
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Trigonocephaly 1
+4 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteoglophonic dysplasia
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+3 more
GBenign
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1, LOC102723716
Single nucleotide variant
(3 prime UTR variant)
Craniosynostosis syndrome
+3 more
GUncertain significance
FGFR1
Single nucleotide variant
(5 prime UTR variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+4 more
GConflicting classifications of pathogenicity
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