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Links from Gene

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OIP5
(F162L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OIP5
(F146V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OIP5
(G102W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130056891, OIP5
(F20I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OIP5, OIP5-AS1
(K154E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANKRD63, BAHD1
+49 more
Duplication
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
OIP5, OIP5-AS1
(L164V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130056891, OIP5
(P52L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130056891, OIP5
(G46E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTC1, ADAL
+200 more
Copy number gain
not specified
GPathogenic
ADAL, AFG2B
+103 more
Deletion
not provided
GPathogenic
OIP5
(A157V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OIP5
(H152P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130056891, OIP5
(W39R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OIP5, OIP5-AS1
(V179L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OIP5, OIP5-AS1
(L158P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OIP5
(P118R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130056891, OIP5
(R11H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130056891, OIP5
(C12Y)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC130056891, OIP5
(T24P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130056891, OIP5
(A13V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OIP5
(A154V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OIP5, OIP5-AS1
(L210V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
NUSAP1, OIP5
+2 more
Copy number gain
not provided
GUncertain significance
CCDC32, RTF1
+60 more
Complex
Spindle cell sarcoma
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
CHP1, EXD1
+4 more
Copy number loss
See cases
GLikely benign
OIP5, NUSAP1
Copy number loss
See cases
GLikely benign
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
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