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Items: 1 to 100 of 793

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACMSD, AMER3
+336 more
Copy number loss
See cases
GPathogenic
LCT
Microsatellite
(3 prime UTR variant)
Congenital lactase deficiency
+1 more
GLikely benign
LCT
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GLikely benign
LCT
Single nucleotide variant
(3 prime UTR variant)
Lactose intolerance
+1 more
GConflicting classifications of pathogenicity
LCT
Single nucleotide variant
(3 prime UTR variant)
Congenital lactase deficiency
GUncertain significance
LCT
Single nucleotide variant
(3 prime UTR variant)
Congenital lactase deficiency
+1 more
GUncertain significance
LCT
Single nucleotide variant
(3 prime UTR variant)
Congenital lactase deficiency
GUncertain significance
LCT
Single nucleotide variant
(3 prime UTR variant)
Congenital lactase deficiency
GLikely benign
LCT
Single nucleotide variant
(3 prime UTR variant)
Congenital lactase deficiency
+1 more
GUncertain significance
LCT
Single nucleotide variant
(3 prime UTR variant)
Congenital lactase deficiency
GUncertain significance
LCT
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
LCT
Single nucleotide variant
(3 prime UTR variant)
Lactose intolerance
+1 more
GUncertain significance
LCT
(V1924A)
Single nucleotide variant
(missense variant)
Congenital lactase deficiency
+1 more
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(P1923L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LCT
(P1923Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
LCT
(S1922R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(L1921V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LCT
(K1910Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(S1909C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(R1908H)
Single nucleotide variant
(missense variant)
Congenital lactase deficiency
GUncertain significance
LCT
(R1908S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(R1908C)
Single nucleotide variant
(missense variant)
Congenital lactase deficiency
+1 more
GConflicting classifications of pathogenicity
LCT
(K1904N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(K1904Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(L1890H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(S1889fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(V1886I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LCT
(A1883T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(G1876S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(M1874V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(S1861G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(P1858S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
Lactose intolerance
+2 more
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(intron variant)
not provided
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(intron variant)
not provided
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GBenign
LCT
Single nucleotide variant
(intron variant)
Congenital lactase deficiency
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
Congenital lactase deficiency
+2 more
GConflicting classifications of pathogenicity
LCT
(G1839D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(N1838fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LCT
(K1829R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(L1820R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(S1816R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(T1802A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
Congenital lactase deficiency
+1 more
GConflicting classifications of pathogenicity
LCT
(D1796fs)
Deletion
(frameshift variant)
Congenital lactase deficiency
GLikely pathogenic
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(A1794V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LCT
(R1787P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(intron variant)
not provided
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(intron variant)
Congenital lactase deficiency
GUncertain significance
LCT
(N1774S)
Single nucleotide variant
(missense variant)
LCT-related disorder
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(Y1768H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
(P1743L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LCT
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LCT
(T1725M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LCT
(M1724V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
(F1720L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LCT
(R1712H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LCT
(A1710T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LCT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LCT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LCT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LCT
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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