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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064822, LOC130064823
+290 more
Copy number gain
See cases
GPathogenic
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LHB, RUVBL2
Single nucleotide variant
(intron variant)
not provided
GBenign
LHB, RUVBL2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
RUVBL2, LHB
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
LHB
(V96M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LHB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LHB
(T78N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
LHB
(A67G)
Single nucleotide variant
(missense variant)
not provided
GBenign
LHB
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LHB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHB
Deletion
(intron variant)
not provided
+1 more
GBenign
LHB
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LHB
Single nucleotide variant
(synonymous variant)
Isolated lutropin deficiency
+1 more
GBenign
LHB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
LHB
(I35T)
Single nucleotide variant
(missense variant)
not provided
GBenign
LHB
(W28R)
Single nucleotide variant
(missense variant)
not provided
GBenign
LHB
(A18T)
Single nucleotide variant
(missense variant)
not provided
GBenign
LHB
(M15I)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
LHB
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LHB
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LHB
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
LHB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHB
Single nucleotide variant
(intron variant)
not provided
GBenign
LHB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHB
Single nucleotide variant
(intron variant)
not provided
GBenign
LHB
Single nucleotide variant
(intron variant)
not provided
GBenign
LHB
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LHB
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LHB
Single nucleotide variant
not provided
GBenign
LHB
Single nucleotide variant
not provided
GLikely benign
LHB
Single nucleotide variant
not provided
GBenign
LHB
Single nucleotide variant
not provided
GBenign
LHB
Single nucleotide variant
not provided
GBenign
LHB
Single nucleotide variant
not provided
GBenign
LHB
Single nucleotide variant
not provided
GBenign
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