U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 361

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+253 more
Copy number loss
See cases
GPathogenic
ALG2, LOC121331339
+10 more
Deletion
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
LOC126860732, LOC126860733
+514 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+514 more
Copy number loss
See cases
GPathogenic
ALG2
Deletion
(3 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
ALG2
Microsatellite
(3 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
ALG2
Duplication
(3 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(V416L)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(K413N)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(T412N)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(Y410*)
Single nucleotide variant
(nonsense +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
(Y410H)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(R409Q)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
ALG2
(Q406H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-related disorder
+2 more
GLikely benign
ALG2
(F398S)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
GLikely pathogenic
ALG2
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(V394L)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(R393G)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(A392T)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(M386fs)
Deletion
(frameshift variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(M386V)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+2 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-related disorder
GLikely benign
ALG2
(T385A)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(A384T)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(S381T)
Inversion
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(R378H)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(R378C)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
(A372V)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(V367A)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(D365E)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(C362S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ALG2
(F360L)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(H355R)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(S352fs)
Indel
(frameshift variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
ALG2
Insertion
(inframe_indel +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(E351Q)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(G347fs)
Deletion
(frameshift variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely pathogenic
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+2 more
GLikely benign
ALG2
(S346L)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+2 more
GUncertain significance
ALG2
(V344L)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(I342T)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
(C339S)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
GUncertain significance
ALG2
(Q338H)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(Q338H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ALG2
(M335I)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(P331A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
(E325G)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(N324S)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+3 more
GUncertain significance
ALG2
(S323I)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+2 more
GUncertain significance
ALG2
(P322T)
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(T321K)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALG2
(Y320C)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(C317R)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(T316M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
(L312H)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(L312F)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(S310Y)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+2 more
GUncertain significance
ALG2
(K308fs)
Deletion
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GLikely benign
ALG2
(Y296C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ALG2
Single nucleotide variant
(non-coding transcript variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
ALG2
(Y281H)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
(H280R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myasthenic syndrome 14
+1 more
GUncertain significance
ALG2
(E272K)
Single nucleotide variant
(missense variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GUncertain significance
ALG2
Single nucleotide variant
(synonymous variant +1 more)
ALG2-congenital disorder of glycosylation
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination