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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057730, LOC132090332
+175 more
Copy number loss
See cases
GPathogenic
CTSH
(R183C +2 more)
Single nucleotide variant
(missense variant)
CTSH-related disorder
GLikely benign
CTSH
(E316K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSH
(N272I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSH
(K262N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSH
(Y154C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSH
(T226S +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CTSH
(Y224C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSH, LOC130057705
(M222V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSH
Single nucleotide variant
(splice donor variant)
not provided
GLikely benign
CTSH
(C176F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSH
(D165H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSH
(V132M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CTSH
(F29del)
Microsatellite
(inframe_deletion +1 more)
not provided
GLikely benign
CTSH
(L162fs)
Deletion
(5 prime UTR variant +1 more)
Variant of unknown significance
GUncertain significance
CTSH
(G121R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
(A155T +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
(S103L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
(P61L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
(D46H +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CTSH
(N32S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
(N31S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
Single nucleotide variant
(5 prime UTR variant +1 more)
CTSH-related disorder
GLikely benign
CTSH
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
CTSH
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CTSH
(A23T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CTSH
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
CTSH
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CTSH
(G11V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
(A10V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
(L7P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CTSH
(T4R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ADAMTS7, CTSH
+2 more
Copy number gain
not provided
GUncertain significance
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+209 more
Copy number gain
not provided
GPathogenic
ABHD17C, ADAMTS7
+19 more
Duplication
not provided
GUncertain significance
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
ABHD17C, ADAMTS7
+49 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+143 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
ABHD17C, ABHD2
+153 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
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