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Links from Gene

Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102723692, LOC111365165
+77 more
Copy number loss
Autism spectrum disorder
GPathogenic
XYLT1, LOC102723692
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Duplication
(non-coding transcript variant +1 more)
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, LOC102723692
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1, LOC102723692
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
(D636N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC102723692, XYLT1
(R662W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC102723692, XYLT1
(E664D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC102723692, XYLT1
(A663T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC102723692, XYLT1
Duplication
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC102723692, XYLT1
(R657C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1, LOC102723692
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
(T534M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(R551H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
(G618R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
(R628H)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1, LOC102723692
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(H541Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(R598H)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(L651W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
(Y614C)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Deletion
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1, LOC102723692
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GBenign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
XYLT1, LOC102723692
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
(R557C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
+1 more
GUncertain significance
LOC102723692, XYLT1
(I609T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC102723692, XYLT1
(D543N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(Q588R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(R662Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC102723692, XYLT1
(L644M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
XYLT1, LOC102723692
(V603M)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(G573S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC102723692, XYLT1
(M545V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
LOC102723692, XYLT1
Duplication
(intron variant)
not provided
GBenign
LOC102723692, XYLT1
Duplication
(intron variant)
not provided
GBenign
LOC102723692, XYLT1
Microsatellite
(intron variant)
not provided
GBenign
LOC102723692, XYLT1
Insertion
(intron variant)
not provided
GBenign
LOC102723692, XYLT1
(R551C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 2
+1 more
GPathogenic
LOC102723692, XYLT1
(T665M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 2
+2 more
GBenign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign
LOC102723692, XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GBenign
LOC102723692, XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GBenign
LOC102723692, 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
Single nucleotide variant
(synonymous variant)
XYLT1-related disorder
+1 more
GLikely benign
XYLT1, LOC102723692
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
(S530A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
XYLT1, LOC102723692
(D646N)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(V647M)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(R657H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC102723692, XYLT1
(N577S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(D583N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
XYLT1, LOC102723692
(S539G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign/Likely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
XYLT1-related disorder
+1 more
GBenign/Likely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
LOC102723692, XYLT1
(G640S)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GBenign
LOC102723692, XYLT1
Duplication
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GBenign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
XYLT1-related disorder
+1 more
GLikely benign
LOC102723692, XYLT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
(P581L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GLikely benign
LOC102723692, XYLT1
(E664K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(R661Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 1
GUncertain significance
LOC102723692, XYLT1
(N605Y)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
+1 more
GUncertain significance
XYLT1, LOC102723692
(R586C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Desbuquois dysplasia 2
+2 more
GUncertain significance
MPV17L-BMERB1, NPIPA7
+66 more
Duplication
Schizophrenia
GPathogenic
LOC125146419, LOC126862299
+83 more
Duplication
Schizophrenia
GPathogenic
LOC102723692, LOC126862302
+15 more
Deletion
Desbuquois dysplasia 1
GPathogenic
LOC102723692, XYLT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC102723692, XYLT1
Duplication
(non-coding transcript variant +1 more)
not provided
GPathogenic
ABCC1, ABCC6
+64 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+66 more
Copy number gain
See cases
GUncertain significance
LOC112340379, LOC112340380
+66 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+65 more
Copy number loss
See cases
GPathogenic/Likely pathogenic
ABCC1, ABCC6
+66 more
Copy number gain
See cases
GUncertain significance
LOC126862302, LOC126862303
+95 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+64 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+66 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+66 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+66 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+80 more
Copy number gain
See cases
GUncertain significance
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