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Links from MedGen

Items: 1 to 100 of 543

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(I700V)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
LOC130058566, XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Duplication
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(R8G)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
(R662L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(E504*)
Single nucleotide variant
(nonsense)
Desbuquois dysplasia 1
GPathogenic
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(intron variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Deletion
(inframe_deletion +1 more)
Desbuquois dysplasia 1
GPathogenic
XYLT1
(M913I)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
+1 more
GLikely benign
ABCC1, ABCC6
+5 more
Deletion
Desbuquois dysplasia 1
GPathogenic
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(A684T)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(L856M)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC130058566, XYLT1
(Q173E)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(V878I)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GBenign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(P849S)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(R892W)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(A60T)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(G41R)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC130058566, XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GBenign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(H15Q)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(L303V)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Duplication
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(S493L)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(T534M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(R270H)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Microsatellite
(inframe_insertion)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(H702L)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(R676Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC102723692, XYLT1
(R551H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(R676*)
Single nucleotide variant
(nonsense)
Desbuquois dysplasia 1
GPathogenic
XYLT1
Single nucleotide variant
(stop lost)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(P683T)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(I850T)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(M720T)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(L691V)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC130058566, XYLT1
(R141Q)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(P943S)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(K809E)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(R277C)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(P731R)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC130058566, XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(G758R)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
LOC130058566, XYLT1
(T172I)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(P59Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
XYLT1
(K288R)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(A424V)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1, LOC102723692
(G618R)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(R957W)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
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