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Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
ACTR1A, ARL3
+135 more
Deletion
Desmoplastic/nodular medulloblastoma
GPathogenic
LOC124416905, LOC124416906
+318 more
Copy number loss
See cases
GPathogenic
CFAP43, CFAP58
+51 more
Copy number gain
See cases
GUncertain significance
CFAP58
(L30I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(D37G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(N56S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(A76V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(A79T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(K86E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(T101K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(T101M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CFAP58
(T141R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(A159P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(R213Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(R198Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(Q218K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(Q276R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(L266R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(A293T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(G306R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(K307T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(M379V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(A378V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(N398S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP58
(A381T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(A381V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(A395T +1 more)
Single nucleotide variant
(missense variant)
CFAP58-related disorder
GUncertain significance
CFAP58
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFAP58
(R424H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(D425G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(R444Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(T453M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(Q436* +1 more)
Single nucleotide variant
(nonsense)
Spermatogenic failure 49
GLikely pathogenic
CFAP58
Deletion
(nonsense)
Spermatogenic failure 49
GPathogenic
CFAP58
(Y483H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(M515I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(M504V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(M504R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(Q529L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(Q548K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(Q566*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 49
GPathogenic
CFAP58
(A592S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(G576R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(K614Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(Q617H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(I654L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(R663C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(R646W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(S654N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFAP58
(H685fs)
Deletion
(frameshift variant)
Spermatogenic failure 49
GPathogenic
CFAP58
(F666S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(M668T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(M668I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(L673S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(R678C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CFAP58
(R698*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 49
GPathogenic
CFAP58
(I727T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(R718S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(Y758*)
Single nucleotide variant
(nonsense)
Spermatogenic failure 49
GPathogenic
CFAP58
(R749H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFAP58
(P751H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(Q758H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(R763Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(T765M +1 more)
Single nucleotide variant
(missense variant)
CFAP58-related disorder
GUncertain significance
CFAP58
(K830R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(D822E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(T841R +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP58
(A842G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFAP58
(D845E +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFAP58
(T850N +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
CFAP58
Copy number loss
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
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