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Items: 1 to 100 of 770

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
(P570R +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
GPathogenic
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+2 more
GLikely benign
FGFR1
Single nucleotide variant
(splice donor variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely pathogenic
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+2 more
GLikely benign
FGFR1
Deletion
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(R417K +5 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
(K480fs +7 more)
Duplication
(frameshift variant)
Pfeiffer syndrome
+1 more
GPathogenic
FGFR1
(V219E +5 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
(L555R +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
(C170G +5 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GLikely pathogenic
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
(P652L +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GLikely pathogenic
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
(D125E +3 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
(V747L +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(splice donor variant)
Pfeiffer syndrome
+1 more
GLikely pathogenic
FGFR1
(L90fs +2 more)
Duplication
(frameshift variant +1 more)
Pfeiffer syndrome
+1 more
GPathogenic
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
(F186V +5 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
(G606R +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
(T104S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(H557fs +7 more)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GPathogenic
FGFR1
(H556fs +7 more)
Deletion
(frameshift variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GPathogenic
FGFR1
(V121L +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(R620fs +7 more)
Duplication
(frameshift variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GPathogenic
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+2 more
GLikely benign
FGFR1
(P139S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(splice acceptor variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely pathogenic
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Duplication
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(K206E +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(R799* +7 more)
Single nucleotide variant
(nonsense +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(R55G +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(V251L +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(D675N +7 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Microsatellite
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Deletion
(inframe_indel +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely pathogenic
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(G368V +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(C39S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(S776A +7 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Deletion
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(P587S +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(Y113C +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(S168F +3 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
(D683N +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
(P809R +7 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(P39L +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(T690I +7 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+2 more
GUncertain significance
FGFR1
(V53A +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
(P364S +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(E501G +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(A74V +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GBenign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
(S116F +3 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
(P28S +1 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+1 more
GLikely benign
FGFR1
(R416H +5 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Pfeiffer syndrome
+1 more
GUncertain significance
FGFR1
Single nucleotide variant
(synonymous variant)
Pfeiffer syndrome
+1 more
GLikely benign
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