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Links from MedGen

Items: 1 to 100 of 553

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT122
(G102E +6 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
(N102H +1 more)
Single nucleotide variant
(missense variant +2 more)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
(R67C)
Single nucleotide variant
(missense variant +2 more)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
(F519L +6 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
(E640G +9 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
+1 more
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122, LOC129937552
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(V113A +6 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(L156fs +6 more)
Microsatellite
(frameshift variant)
Cranioectodermal dysplasia 1
GPathogenic
IFT122
(Q172* +6 more)
Single nucleotide variant
(nonsense)
Cranioectodermal dysplasia 1
GPathogenic
IFT122
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(E647fs +6 more)
Deletion
(frameshift variant)
Cranioectodermal dysplasia 1
GPathogenic
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(G693V +9 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(Q178* +6 more)
Single nucleotide variant
(nonsense)
Cranioectodermal dysplasia 1
GPathogenic
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(W1082* +13 more)
Single nucleotide variant
(nonsense)
Cranioectodermal dysplasia 1
GPathogenic
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
(D654G +9 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
(M151fs +2 more)
Duplication
(frameshift variant +1 more)
Cranioectodermal dysplasia 1
GPathogenic
IFT122, LOC126806810
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(C130*)
Single nucleotide variant
(nonsense +1 more)
Cranioectodermal dysplasia 1
GPathogenic
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
IFT122-related disorder
+1 more
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
IFT122-related disorder
+1 more
GLikely benign
IFT122, LOC126806810
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122, LOC129937552
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(T894fs +9 more)
Microsatellite
(frameshift variant)
Cranioectodermal dysplasia 1
GPathogenic
IFT122
(M471R +6 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
(I221V +6 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(G32R)
Single nucleotide variant
(missense variant +1 more)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
(K66T)
Single nucleotide variant
(missense variant +2 more)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122, MBD4
Duplication
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(D240N +2 more)
Single nucleotide variant
(missense variant +1 more)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
(R1016C +13 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
+1 more
GUncertain significance
IFT122
(Y876fs +6 more)
Indel
(frameshift variant)
Cranioectodermal dysplasia 1
GPathogenic
IFT122
(L1014V +13 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GBenign
IFT122
(R1044Q +13 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
GLikely benign
IFT122
(H849R +13 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
IFT122
(V618A +9 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
GUncertain significance
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