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Items: 1 to 100 of 994

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
LOC126860732, LOC126860733
+514 more
Copy number loss
See cases
GPathogenic
ABCA1, ABITRAM
+514 more
Copy number loss
See cases
GPathogenic
CT70, CTNNAL1
+509 more
Copy number loss
See cases
GPathogenic
ERP44, INVS
+21 more
Copy number loss
See cases
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile nephronophthisis
GLikely benign
INVS, LOC130002251
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile nephronophthisis
GUncertain significance
LOC130002251, INVS
Single nucleotide variant
(5 prime UTR variant +1 more)
Infantile nephronophthisis
+3 more
GBenign
INVS
Deletion
Nephronophthisis
GPathogenic
INVS
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INVS
(N2K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
(S4A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
(V23L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
(V23I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GUncertain significance
INVS
(G28fs)
Deletion
(5 prime UTR variant +2 more)
Nephronophthisis
GPathogenic
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GLikely benign
INVS
(Q31R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GBenign
INVS
(V35I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GUncertain significance
INVS
(V35A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Insertion
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Duplication
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Deletion
Nephronophthisis
GPathogenic
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
INVS
Single nucleotide variant
(splice acceptor variant)
Nephronophthisis
GLikely pathogenic
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+2 more
GConflicting classifications of pathogenicity
INVS
(L40F)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GUncertain significance
INVS
(L40V)
Single nucleotide variant
(5 prime UTR variant +2 more)
INVS-related disorder
+3 more
GConflicting classifications of pathogenicity
INVS
(K43del)
Deletion
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
(E44A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
(T50I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
(L52F)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
(M53T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
(V56M)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
(L61fs)
Duplication
(5 prime UTR variant +2 more)
Nephronophthisis
GPathogenic
INVS
(R60G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
(D65G)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
GUncertain significance
INVS
(A66V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+1 more
GConflicting classifications of pathogenicity
INVS
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
(S80N)
Single nucleotide variant
(5 prime UTR variant +2 more)
Infantile nephronophthisis
+1 more
GUncertain significance
INVS
(R82fs)
Deletion
(5 prime UTR variant +2 more)
Nephronophthisis
GPathogenic
INVS
(H86D)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
(A89V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
INVS
(Q90R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GUncertain significance
INVS
Single nucleotide variant
(splice donor variant)
Nephronophthisis
GLikely pathogenic
INVS
Single nucleotide variant
(intron variant)
Infantile nephronophthisis
+1 more
GUncertain significance
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GUncertain significance
INVS
Deletion
(intron variant)
Nephronophthisis
GBenign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
INVS
Single nucleotide variant
(intron variant)
not provided
GBenign
INVS
Deletion
(intron variant)
not provided
GBenign
INVS
Insertion
(intron variant)
not provided
GBenign
INVS
Insertion
(intron variant)
not provided
GBenign
INVS
Single nucleotide variant
(intron variant)
not provided
GBenign
INVS
Deletion
(intron variant)
Nephronophthisis
GLikely benign
INVS
Deletion
Nephronophthisis
GUncertain significance
INVS
Microsatellite
(intron variant)
Nephronophthisis
GLikely benign
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