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Items: 1 to 100 of 523

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
ABCB11, ATF2
+269 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+214 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+136 more
Copy number loss
See cases
GPathogenic
ATP5MC3, ATF2
+159 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+150 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+68 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+66 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+66 more
Copy number gain
See cases
Gconflicting data from submitters
AGPS, ATF2
+224 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
CHRNA1, LOC129935149
+1 more
Deletion
Lethal multiple pterygium syndrome
GPathogenic
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+2 more
GConflicting classifications of pathogenicity
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+2 more
GBenign/Likely benign
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Lethal multiple pterygium syndrome
+1 more
GConflicting classifications of pathogenicity
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Lethal multiple pterygium syndrome
+1 more
GConflicting classifications of pathogenicity
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+2 more
GBenign/Likely benign
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(3 prime UTR variant)
Congenital myasthenic syndrome
+1 more
GUncertain significance
CHRNA1, LOC122861243
+2 more
Duplication
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(L450F +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(R474* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
CHRNA1
(G473D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRNA1
(V445E +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(V445M +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome
+1 more
GConflicting classifications of pathogenicity
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
(G441R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
+1 more
GLikely benign
CHRNA1
(I440T +1 more)
Single nucleotide variant
(missense variant)
CHRNA1-related disorder
GUncertain significance
CHRNA1
(I465V +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
(C438W +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 1A
GPathogenic
CHRNA1
(C438R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRNA1
(L436P +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(M435K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CHRNA1
(G432R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CHRNA1
Single nucleotide variant
(synonymous variant)
CHRNA1-related disorder
+3 more
GConflicting classifications of pathogenicity
CHRNA1
(L430F +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
(H428N +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(M426I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
(A423T +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(V447I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
(Y421C +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(W419R +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
+1 more
GConflicting classifications of pathogenicity
CHRNA1
(A441V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(A415V +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
Single nucleotide variant
(intron variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
Single nucleotide variant
(intron variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
Single nucleotide variant
(intron variant)
not specified
GBenign
CHRNA1
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA1
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA1
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA1
Single nucleotide variant
(intron variant)
not provided
GBenign
CHRNA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CHRNA1
Single nucleotide variant
(intron variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
Single nucleotide variant
(intron variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
CHRNA1
(N439K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRNA1
(E411D +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CHRNA1
(E411K +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(K407N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
(K425R +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(I424T +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
(E397K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRNA1
(A395V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CHRNA1
(S394R +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+1 more
GUncertain significance
CHRNA1
(E416K +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
GLikely benign
CHRNA1
(K388Q +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
(P385T +1 more)
Single nucleotide variant
(missense variant)
CHRNA1-related disorder
GUncertain significance
CHRNA1
(P410S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRNA1
(S409F +1 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
GUncertain significance
CHRNA1
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
+1 more
GConflicting classifications of pathogenicity
CHRNA1
(M405T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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