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Items: 1 to 100 of 369

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA10, ADAM11
+2032 more
Copy number gain
See cases
GPathogenic
LOC130060795, LOC130060796
+1753 more
Copy number gain
See cases
GPathogenic
ABCC3, ABI3
+203 more
Copy number loss
See cases
GPathogenic
ABCC3, ACSF2
+196 more
Copy number loss
See cases
GPathogenic
LOC130061159, XYLT2
Single nucleotide variant
not provided
GBenign
LOC130061159, XYLT2
Single nucleotide variant
not provided
GBenign
LOC130061159, XYLT2
Single nucleotide variant
not provided
GBenign
LOC130061159, XYLT2
Single nucleotide variant
not provided
GBenign
XYLT2
(V2G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(A3V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(L10Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
Spondylo-ocular syndrome
+2 more
GBenign
XYLT2
(V11G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC130061160, XYLT2
(R12W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC130061160, XYLT2
(R13L)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta
GUncertain significance
LOC130061160, XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130061160, XYLT2
(A21V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC130061160, XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC130061160, XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(intron variant)
not provided
GBenign
XYLT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130061161, XYLT2
Single nucleotide variant
(intron variant)
not provided
GBenign
XYLT2
Single nucleotide variant
(intron variant)
not provided
GBenign
XYLT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
XYLT2
(R48S)
Single nucleotide variant
(missense variant +1 more)
XYLT2-related condition
+1 more
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(R53Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XYLT2
(D56N)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta
+2 more
GBenign/Likely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
XYLT2-related condition
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign
XYLT2
(D65N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(R71Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XYLT2
(S73G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
XYLT2
(R80L)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta
GUncertain significance
XYLT2
(R84H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
XYLT2
(K94T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(R97W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(R97Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(T100I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XYLT2
(T100S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(R104K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(R107Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(R108W)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
XYLT2
(P114L)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
GUncertain significance
XYLT2
Single nucleotide variant
(non-coding transcript variant +1 more)
Spondylo-ocular syndrome
+1 more
GBenign
XYLT2
(P115L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(R120H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
XYLT2
(S124T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(G142R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(S146C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(S146N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XYLT2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
XYLT2
(V147M)
Single nucleotide variant
(missense variant +1 more)
XYLT2-related condition
+1 more
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(A150T)
Single nucleotide variant
(missense variant +1 more)
XYLT2-related condition
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
XYLT2
(D155N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XYLT2
(E163K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(V165M)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta
+2 more
GUncertain significance
XYLT2
(G166S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(L170P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(A174fs)
Deletion
(frameshift variant +1 more)
Spondylo-ocular syndrome
GPathogenic
XYLT2
(A176V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(Q182K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(N187S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XYLT2
(A201V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
XYLT2
(V202M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(R204Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
XYLT2
(C206S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
XYLT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
XYLT2
(S213G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(G215S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(E220D)
Single nucleotide variant
(missense variant +1 more)
XYLT2-related condition
+2 more
GBenign/Likely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(V232fs)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic
XYLT2
(P231L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
XYLT2
(R233Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
(R243H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
XYLT2-related condition
GLikely benign
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