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Items: 1 to 100 of 155

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999373, LOC129999374
+492 more
Copy number loss
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
AASS, ARF5
+163 more
Copy number loss
See cases
GPathogenic
COPG2, COPG2IT1
+342 more
Copy number loss
See cases
GPathogenic
LOC129999356, LOC129999357
+284 more
Copy number loss
See cases
GPathogenic
IMPDH1, AHCYL2
+106 more
Copy number gain
See cases
GLikely benign
LEP, LOC106728418
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
LEP
Single nucleotide variant
(5 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(5 prime UTR variant)
LEP-related disorder
GLikely benign
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LEP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LEP
(G8R)
Single nucleotide variant
(missense variant)
LEP-related disorder
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEP
(L10F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEP
Deletion
(inframe_deletion)
LEP-related disorder
GUncertain significance
LEP
(Y18C)
Single nucleotide variant
(missense variant)
Obesity due to congenital leptin deficiency
+1 more
GConflicting classifications of pathogenicity
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GUncertain significance
LEP
(Q25*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LEP
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
LEP
(K36R)
Single nucleotide variant
(missense variant)
LEP-related disorder
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
(I45V)
Single nucleotide variant
(missense variant)
LEP-related disorder
GUncertain significance
LEP
(T48M)
Single nucleotide variant
(missense variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Deletion
(intron variant)
not provided
GLikely benign
LEP
Single nucleotide variant
(intron variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
LEP
Single nucleotide variant
(intron variant)
not provided
GBenign
LEP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LEP
Single nucleotide variant
(intron variant)
not provided
GBenign
LEP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LEP
Single nucleotide variant
(intron variant)
not provided
GBenign
LEP
Single nucleotide variant
(intron variant)
not provided
GBenign
LEP
Single nucleotide variant
(intron variant)
LEP-related disorder
GLikely benign
LEP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
(G59S)
Single nucleotide variant
(missense variant)
Obesity due to congenital leptin deficiency
GPathogenic
LEP
(D61N)
Single nucleotide variant
(missense variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
LEP
(P64S)
Single nucleotide variant
(missense variant)
Obesity due to congenital leptin deficiency
GPathogenic
LEP
(G65V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
(I69T)
Single nucleotide variant
(missense variant)
LEP-related disorder
GUncertain significance
LEP
(T71N)
Single nucleotide variant
(missense variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
(L72S)
Single nucleotide variant
(missense variant)
LEP-related disorder
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
(V94M)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+3 more
GBenign/Likely benign
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
(D100Y)
Single nucleotide variant
(missense variant)
Leptin dysfunction
GPathogenic
LEP
(N103K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LEP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LEP
(R105W)
Single nucleotide variant
(missense variant)
Obesity due to congenital leptin deficiency
GPathogenic
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
(V110M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEP
(C117F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LEP
(S123G)
Single nucleotide variant
(missense variant)
LEP-related disorder
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
(E126Q)
Single nucleotide variant
(missense variant)
LEP-related disorder
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEP
(G133fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LEP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LEP
(A146S)
Single nucleotide variant
(missense variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(synonymous variant)
LEP-related disorder
GLikely benign
LEP
(L154P)
Single nucleotide variant
(missense variant)
Obesity due to congenital leptin deficiency
GLikely pathogenic
LEP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LEP
(G166R)
Single nucleotide variant
(missense variant)
LEP-related disorder
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
LEP-related disorder
GLikely benign
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+2 more
GConflicting classifications of pathogenicity
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+2 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
LEP
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+2 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GLikely benign
LEP
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
+1 more
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
GUncertain significance
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
+1 more
GLikely benign
LEP
Single nucleotide variant
(3 prime UTR variant)
Obesity due to congenital leptin deficiency
+1 more
GUncertain significance
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