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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGFR1
Single nucleotide variant
(splice donor variant)
Hartsfield-Bixler-Demyer syndrome
GUncertain significance
FGFR1
(K424T +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GLikely pathogenic
FGFR1
(D548G +7 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+2 more
GConflicting classifications of pathogenicity
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
(D123H +3 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GUncertain significance
FGFR1
(D589N +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
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
(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
(R529Q +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+3 more
GConflicting classifications of pathogenicity
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
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
Single nucleotide variant
(intron variant +1 more)
Hartsfield-Bixler-Demyer syndrome
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
(3 prime UTR variant +1 more)
Craniosynostosis syndrome
+7 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+6 more
GLikely benign
FGFR1
(D166del +3 more)
Microsatellite
(inframe_deletion)
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
(synonymous variant)
Jackson-Weiss syndrome
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Jackson-Weiss syndrome
+6 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(intron variant)
Jackson-Weiss syndrome
+6 more
GLikely benign
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Jackson-Weiss syndrome
+8 more
GLikely benign
FGFR1
(G97C +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 +1 more)
Trigonocephaly 1
+6 more
GLikely pathogenic
FGFR1
(R538S +7 more)
Single nucleotide variant
(missense variant)
Cerebellar vermis hypoplasia
+2 more
GPathogenic/Likely pathogenic
FGFR1
(A3fs)
Duplication
(frameshift variant +1 more)
not specified
+7 more
GUncertain significance
FGFR1
(W577R +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GLikely benign
FGFR1
(V102I +2 more)
Single nucleotide variant
(missense variant +1 more)
Osteoglophonic dysplasia
+7 more
GBenign/Likely benign
FGFR1
(A152T +5 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GBenign
FGFR1
(D623E +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
(D641N +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
(Q72* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GPathogenic/Likely pathogenic
FGFR1
(M535K +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+8 more
GBenign/Likely benign
FGFR1
(M535del +7 more)
Microsatellite
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
FGFR1
(R475Q +7 more)
Single nucleotide variant
(missense variant)
Osteoglophonic dysplasia
+7 more
GUncertain significance
FGFR1
(R507H +7 more)
Single nucleotide variant
(missense variant)
Pfeiffer syndrome
+7 more
GUncertain significance
FGFR1
(P28L +1 more)
Single nucleotide variant
(missense variant +1 more)
Pfeiffer syndrome
+7 more
GUncertain significance
FGFR1
(F43C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
FGFR1
(T340M +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
Osteoglophonic dysplasia
+7 more
GLikely benign
FGFR1
Single nucleotide variant
(intron variant)
Trigonocephaly 1
+4 more
GUncertain significance
FGFR1
Single nucleotide variant
(intron variant)
Trigonocephaly 1
+8 more
GBenign/Likely benign
FGFR1
Single nucleotide variant
(synonymous variant)
Osteoglophonic dysplasia
+8 more
GBenign
FGFR1
Single nucleotide variant
(synonymous variant)
Trigonocephaly 1
+8 more
GBenign
FGFR1
(R822H +6 more)
Single nucleotide variant
(missense variant +1 more)
Osteoglophonic dysplasia
+8 more
GUncertain significance
FGFR1
(G485V +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GLikely pathogenic
FGFR1
(N539K +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
Gnot provided
FGFR1
(R538T +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GConflicting classifications of pathogenicity
FGFR1
(G397R +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GLikely pathogenic
FGFR1
(L191S +5 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
Gnot provided
FGFR1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+9 more
GBenign/Likely benign
FGFR1
(E274G +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+8 more
GConflicting classifications of pathogenicity
FGFR1
(G487D +7 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
(R148H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
FGFR1
(D530Y +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
(L165S +5 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
(C636Y +6 more)
Single nucleotide variant
(missense variant)
Hartsfield-Bixler-Demyer syndrome
GPathogenic
FGFR1
(P366L +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
FGFR1
(I300T +5 more)
Single nucleotide variant
(missense variant)
Trigonocephaly 1
+9 more
GConflicting classifications of pathogenicity
FGFR1
(P252R +5 more)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism 2 with or without anosmia
+7 more
GPathogenic
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