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Items: 1 to 100 of 615

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XYLT1
Microsatellite
Desbuquois dysplasia 2
GPathogenic
ABAT, ABCC1
+851 more
Copy number gain
See cases
GPathogenic
ABCC1, ABCC6
+101 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+95 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+96 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+96 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+96 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+85 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+85 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+400 more
Copy number gain
See cases
GPathogenic
ABCC1, ABCC6
+74 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+83 more
Copy number gain
See cases
GPathogenic
ABCC1, ABCC6
+73 more
Copy number gain
See cases
GUncertain significance
LOC125146419, LOC126862299
+83 more
Duplication
Schizophrenia
GPathogenic
ABCC1, ABCC6
+80 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+79 more
Copy number loss
See cases
GPathogenic
LOC102723692, LOC111365165
+77 more
Copy number loss
Autism spectrum disorder
GPathogenic
ABCC1, ABCC6
+76 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+66 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+77 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+78 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+77 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+77 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+66 more
Copy number gain
See cases
GLikely pathogenic
ABCC1, ABCC6
+77 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
+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
+77 more
Copy number gain
See cases
GUncertain significance
MPV17L-BMERB1, NPIPA7
+66 more
Duplication
Schizophrenia
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 loss
See cases
GPathogenic
ABCC1, ABCC6
+77 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
+65 more
Copy number loss
See cases
GPathogenic/Likely pathogenic
ABCC1, ABCC6
+65 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+65 more
Copy number loss
See cases
GLikely pathogenic
ABCC1, ABCC6
+65 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+64 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+64 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+64 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+64 more
Copy number gain
See cases
GUncertain significance
ABCC1, ABCC6
+64 more
Copy number loss
See cases
GPathogenic
ABCC1, ABCC6
+75 more
Copy number gain
See cases
GUncertain significance
LOC102723692, LOC111365165
+29 more
Copy number loss
See cases
GPathogenic
LOC126862305, LOC129390771
+40 more
Copy number gain
See cases
GUncertain significance
LOC126862301, LOC102723692
+40 more
Copy number gain
See cases
GUncertain significance
LOC102723692, LOC111365165
+13 more
Copy number gain
See cases
GUncertain significance
LOC102723692, LOC126862302
+15 more
Deletion
Desbuquois dysplasia 1
GPathogenic
XYLT1
Single nucleotide variant
(stop lost)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(R957Q)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(R957W)
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
(K946T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XYLT1
(P943S)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(A937T)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
+1 more
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(T936M)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
+2 more
GUncertain significance
XYLT1
(T936S)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(P928L)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(G923D)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
+1 more
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
(T922M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
XYLT1
(M913I)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(L909del)
Deletion
(inframe_deletion)
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
(T898M)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(S897F)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(R892Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
XYLT1
(R892W)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(Q890R)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(E889Q)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(A886S)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GBenign
XYLT1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
XYLT1
Single nucleotide variant
(synonymous variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(S880N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
XYLT1
(S880T)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(V878I)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
XYLT1
(Q873H)
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
(L856M)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(E854A)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
(E854K)
Single nucleotide variant
(missense variant)
Desbuquois dysplasia 1
GUncertain significance
XYLT1
(E854*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GLikely pathogenic
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(intron variant)
Desbuquois dysplasia 1
GLikely benign
XYLT1
Single nucleotide variant
(intron variant)
not provided
GBenign
XYLT1
Single nucleotide variant
(intron variant)
not provided
GBenign
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