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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
LOC125146428, LOC125146429
+400 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+287 more
Copy number gain
See cases
GLikely pathogenic
LOC130058727, LOC130058728
+287 more
Copy number gain
See cases
GPathogenic
AQP8, ARHGAP17
+209 more
Copy number loss
See cases
GPathogenic
OTOA, PALB2
+280 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+233 more
Copy number gain
See cases
GLikely pathogenic
DCTPP1, DOC2A
+409 more
Copy number gain
See cases
GPathogenic
PLK1
(A4S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(G21V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(P36L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(V43A)
Single nucleotide variant
(missense variant)
Recurrent spontaneous abortion
GUncertain significance
PLK1
(P92R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PLK1
(G205W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(N275K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(A279T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(I296V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(R313S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(I327T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(S331N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(R364Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(S439*)
Single nucleotide variant
(nonsense)
Trichothiodystrophy
GUncertain significance
PLK1
(R456H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(R483H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(P499L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(V530M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(R563H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(A583T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(R584C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(R594C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(R594H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLK1
(K601T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DCTN5, PALB2
+1 more
Deletion
Familial cancer of breast
GPathogenic
NPIPB5, PALB2
+64 more
Copy number loss
Chromosome 16p12.2-p11.2 deletion syndrome
GPathogenic
ALDOA, APOBR
+93 more
Copy number gain
not provided
GPathogenic
ABAT, ABCC1
+226 more
Copy number gain
not provided
GPathogenic
APOBR, AQP8
+67 more
Copy number loss
not provided
GPathogenic
ABAT, ABCC1
+252 more
Copy number gain
See cases
GPathogenic
KDM8, LAT
+69 more
Copy number gain
not provided
Gnot provided
KDM8, LAT
+64 more
Deletion
not provided
GPathogenic
GGA2, GSG1L
+64 more
Copy number gain
not provided
GPathogenic
ABAT, ABCC1
+250 more
Copy number gain
Microcephaly
GPathogenic
CACNG3, CHP2
+7 more
Copy number loss
not provided
GUncertain significance
APOBR, AQP8
+65 more
Copy number loss
not provided
GPathogenic
ACSM1, ACSM2A
+128 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+65 more
Copy number gain
See cases
GPathogenic
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+44 more
Copy number gain
See cases
GPathogenic
ALDOA, APOBR
+102 more
Copy number loss
See cases
GPathogenic
ACSM1, ACSM2A
+119 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ALG1, BICDL2
+388 more
Complex
Hemimegalencephaly
GPathogenic
ACSM1, ACSM2A
+95 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+384 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+330 more
Copy number gain
See cases
GPathogenic
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