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Links from Gene

Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECT2
(L35R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(F266L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(I395V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECT2
(T702I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(I316V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(K800N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(P630A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(T355A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(R350H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2, NCEH1
+2 more
Copy number gain
not specified
GUncertain significance
ECT2, FNDC3B
+5 more
Copy number gain
not provided
GUncertain significance
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
ECT2
(M176T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(I237N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(I381V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECT2
(M367V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(R615W +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(H371Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(Y398C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECT2
(S852L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(D521G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(D467N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTRT3, CLDN11
+25 more
Duplication
Fanconi-Bickel syndrome
GUncertain significance
ECT2
(S806C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(K646R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(R391G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(T143I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(I703L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(K621E +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(F209C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(R615Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(D839A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(E292D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(Q449P +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(R162M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(H880R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ECT2
(F165C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2
(A819T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2, NCEH1
Copy number gain
not provided
GUncertain significance
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
ACTL6A, ACTRT3
+79 more
Copy number gain
not specified
GPathogenic
ECT2, NCEH1
+1 more
Copy number gain
not provided
GUncertain significance
ACTL6A, ACTRT3
+40 more
Copy number gain
not provided
GLikely pathogenic
SPATA16, ECT2
Copy number gain
not provided
GUncertain significance
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
ECT2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ECT2, FNDC3B
+5 more
Copy number gain
not provided
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+220 more
Copy number gain
See cases
GPathogenic
ECT2, FNDC3B
+3 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
LOC112935909, LOC112935910
+35 more
Copy number loss
See cases
GLikely pathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
ACTL6A, ACTRT3
+306 more
Copy number gain
See cases
GPathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
ACTRT3, ARL14
+304 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129937936, LOC129937937
+631 more
Copy number gain
See cases
GPathogenic
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