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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937936, LOC129937937
+631 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
ACTRT3, ARL14
+304 more
Copy number gain
See cases
GPathogenic
ACTL6A, ACTRT3
+306 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
LOC112935909, LOC112935910
+35 more
Copy number loss
See cases
GLikely pathogenic
NCEH1
(R262Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(N256S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(V376M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(R227H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(R331C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(Q181R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(I312V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(R152H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(V135I +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NCEH1
(N126S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(V114I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(R112C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(Y186C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NCEH1
(D128H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NCEH1
(S108G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NCEH1
(E102K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NCEH1
(G89D)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NCEH1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
NCEH1
(S76P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NCEH1
(F69S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
NCEH1
(Y52C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC112935910, NCEH1
(A16T)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC112935910, NCEH1
(A10V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC112935910, NCEH1
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
LOC112935910, NCEH1
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
LOC112935910, NCEH1
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
LOC112935910, NCEH1
(S3R)
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
ACTRT3, CLDN11
+25 more
Duplication
Fanconi-Bickel syndrome
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
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
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
FNDC3B, GHSR
+2 more
Copy number gain
See cases
GUncertain significance
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
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