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Links from MedGen

Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZIC3
(E26Q)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+2 more
GLikely benign
FANCB
(N102K)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(Y539H)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GUncertain significance
FANCB
(S439R)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(S496C)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GUncertain significance
FANCB
(I304V)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(D377G)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
Indel
(nonsense)
not provided
+2 more
GUncertain significance
ZIC3
(K337R)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group B
+3 more
GLikely benign
ZIC3
(R368fs)
Deletion
(frameshift variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GPathogenic/Likely pathogenic
FANCB
(R409Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GUncertain significance
FANCB
(R613P)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(D373G)
Single nucleotide variant
(missense variant)
Fanconi anemia
+3 more
GUncertain significance
FANCB
(Q198P)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GUncertain significance
FANCB
(S267L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+3 more
GUncertain significance
FANCB
(E573D)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(P536S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GConflicting classifications of pathogenicity
ZIC3
(N223S)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(5 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+2 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(5 prime UTR variant +2 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
FANCB
(T66P)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia
+3 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
(A203T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
+2 more
GBenign/Likely benign
ZIC3
(P39L)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(5 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(5 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(5 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
(R121H)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+4 more
GConflicting classifications of pathogenicity
FANCB
(N270S)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
(R551K)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(3 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
FANCB
(S356L)
Single nucleotide variant
(missense variant)
Fanconi anemia
+4 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+3 more
GBenign/Likely benign
FANCB
(T663A)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign
FANCB
(V300F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GUncertain significance
FANCB
(E781G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
FANCB
(R481H)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign
FANCB
(S465P)
Single nucleotide variant
(missense variant)
Fanconi anemia
+3 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group B
+2 more
GBenign/Likely benign
FANCB
(A776V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group B
+2 more
GConflicting classifications of pathogenicity
FANCB
(I67V)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group B
+2 more
GConflicting classifications of pathogenicity
FANCB
(V236M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
FANCB
(T826M)
Single nucleotide variant
(missense variant)
FANCB-related disorder
+4 more
GBenign/Likely benign
FANCB
(E218Q)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCB
(C574S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
FANCB
Single nucleotide variant
(5 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GLikely benign
FANCB
Single nucleotide variant
(5 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(5 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GBenign
FANCB
Single nucleotide variant
(5 prime UTR variant +2 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GBenign
FANCB
Single nucleotide variant
(synonymous variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+3 more
GBenign/Likely benign
FANCB
(E119D)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign/Likely benign
FANCB
(R261Q)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
(S305Y)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
Single nucleotide variant
(intron variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
FANCB
(T360A)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
(S422F)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
FANCB
(T437M)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GBenign
FANCB
(K498N)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+4 more
GConflicting classifications of pathogenicity
FANCB
(S606N)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+3 more
GLikely benign
FANCB
(S771G)
Single nucleotide variant
(missense variant)
FANCB-related disorder
+4 more
GBenign/Likely benign
FANCB
(D804G)
Single nucleotide variant
(missense variant)
FANCB-related disorder
+3 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(3 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign
FANCB
Single nucleotide variant
(3 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GBenign
FANCB
Single nucleotide variant
(3 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GBenign
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
ZIC3
Deletion
(3 prime UTR variant +1 more)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
ZIC3
Deletion
(3 prime UTR variant +1 more)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
ZIC3
Single nucleotide variant
(intron variant +1 more)
Heterotaxy, visceral, 1, X-linked
+2 more
GBenign/Likely benign
ZIC3
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
ZIC3
(T44S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
+2 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(5 prime UTR variant)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
FANCB
Microsatellite
(intron variant)
FANCB-related disorder
+5 more
GBenign/Likely benign
FANCB
(G335E)
Single nucleotide variant
(missense variant)
Fanconi anemia
+5 more
GBenign/Likely benign
FANCB
(R818G)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+5 more
GBenign/Likely benign
FANCB
(F590S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
+7 more
GConflicting classifications of pathogenicity
FANCL
(S144fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group L
+1 more
GPathogenic/Likely pathogenic
FANCB
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+3 more
GConflicting classifications of pathogenicity
FANCB
(F380L)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+5 more
GConflicting classifications of pathogenicity
ZIC3
(G17C)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
FANCB
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
ZIC3
Microsatellite
(inframe_insertion)
VACTERL association, X-linked, with or without hydrocephalus
GPathogenic
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