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Links from Gene

Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITPRIP
(D358H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(G143D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ITPRIP
(T252K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(S426R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(L440P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(A277G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(N27K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(C257Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(R25Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(V245M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(T154M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(Q542K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(P539T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(R504W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(L458R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(A456T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(G427E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(E34G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
ITPRIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ITPRIP
(R148H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(T394M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ITPRIP
(R148L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(S377N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(G118D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(C115Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(L392F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(T290P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(M185I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(E162Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(L269F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(D249N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(R514C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(K342N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(R231H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(S376A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(R482C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(A73V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(D87N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(M301V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(E34Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(D121N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(P111S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(R514L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(R231C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(E147K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(P539L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ITPRIP
(T141M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C10orf95, CALHM1
+57 more
Copy number loss
not specified
GPathogenic
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
ABLIM1, ABRAXAS2
+157 more
Copy number gain
not provided
GPathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABLIM1, ABRAXAS2
+151 more
Copy number gain
See cases
GPathogenic
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic
LOC124416905, LOC124416906
+318 more
Copy number loss
See cases
GPathogenic
CFAP43, CFAP58
+51 more
Copy number gain
See cases
GUncertain significance
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
ACTR1A, ARL3
+135 more
Deletion
Desmoplastic/nodular medulloblastoma
GPathogenic
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