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Items: 1 to 100 of 148

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)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 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
+6 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
FGFR1
(D125E +3 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(R799* +7 more)
Single nucleotide variant
(nonsense +1 more)
Trigonocephaly 1
+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)
Hartsfield-Bixler-Demyer syndrome
+6 more
GUncertain significance
FGFR1
(N57S +2 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+6 more
GBenign/Likely benign
FGFR1
(V71M +2 more)
Single nucleotide variant
(missense variant +1 more)
Hartsfield-Bixler-Demyer syndrome
+6 more
GConflicting classifications of pathogenicity
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
FGFR1
(D69N +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
(R817C +7 more)
Single nucleotide variant
(missense variant +1 more)
Hartsfield-Bixler-Demyer syndrome
+6 more
GUncertain significance
FGFR1
(G610S +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR1
(A86E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hartsfield-Bixler-Demyer syndrome
+6 more
GUncertain significance
FGFR1
(D691N +7 more)
Single nucleotide variant
(missense variant +1 more)
Hartsfield-Bixler-Demyer syndrome
+6 more
GUncertain significance
FGFR1
(S36N +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Pfeiffer syndrome
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Trigonocephaly 1
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Pfeiffer syndrome
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+7 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Trigonocephaly 1
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(intron variant)
not provided
+7 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)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Jackson-Weiss syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR1
(D119E +3 more)
Single nucleotide variant
(missense variant)
Jackson-Weiss syndrome
+6 more
GUncertain significance
FGFR1
(R181H +5 more)
Single nucleotide variant
(missense variant)
Jackson-Weiss 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)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR1
(R663H +7 more)
Single nucleotide variant
(missense variant)
Jackson-Weiss syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR1
(L7R +1 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR1
(E499K +7 more)
Single nucleotide variant
(missense variant)
Jackson-Weiss syndrome
+6 more
GUncertain significance
FGFR1
(R643W +7 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
FGFR1
(L49M +2 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+6 more
GConflicting classifications of pathogenicity
FGFR1
(V658M +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR1
(E782fs +6 more)
Deletion
(frameshift variant +1 more)
Pfeiffer syndrome
+7 more
GUncertain significance
FGFR1
(E478K +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
+6 more
GUncertain significance
FGFR1
(G179D +5 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
+7 more
GLikely pathogenic
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
(E118D +3 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+7 more
GUncertain significance
FGFR1
(R716Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Jackson-Weiss syndrome
+7 more
GConflicting classifications of pathogenicity
FGFR1
(H717Y +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
FGFR1
(R483Q +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
(D52N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
FGFR1
(Y289C +5 more)
Single nucleotide variant
(missense variant)
Trigonocephaly 1
+7 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
not provided
+7 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
not provided
+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)
not provided
+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
(Q122R +2 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+7 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)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(synonymous 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
(E374K +7 more)
Single nucleotide variant
(missense variant)
Trigonocephaly 1
+6 more
GUncertain significance
FGFR1
(K195R +5 more)
Single nucleotide variant
(missense variant)
Jackson-Weiss syndrome
+6 more
GUncertain significance
FGFR1
(V350I +5 more)
Single nucleotide variant
(missense variant)
Jackson-Weiss syndrome
+6 more
GUncertain significance
FGFR1
(R691W +6 more)
Single nucleotide variant
(missense variant +1 more)
Encephalocraniocutaneous lipomatosis
+6 more
GUncertain significance
FGFR1
(R56W +2 more)
Single nucleotide variant
(missense variant +1 more)
Encephalocraniocutaneous lipomatosis
+1 more
GUncertain significance
FGFR1
(T133R +3 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GUncertain significance
FGFR1
(G406R +7 more)
Single nucleotide variant
(missense variant)
Encephalocraniocutaneous lipomatosis
+6 more
GUncertain significance
FGFR1
(N110K +2 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+7 more
GUncertain significance
FGFR1
(T144I +2 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+6 more
GUncertain significance
FGFR1
(L555fs +7 more)
Deletion
(frameshift variant)
Encephalocraniocutaneous lipomatosis
GPathogenic
FGFR1
(R448W +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Encephalocraniocutaneous lipomatosis
+2 more
GConflicting classifications of pathogenicity
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