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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
ACTL8, AGMAT
+303 more
Copy number loss
See cases
GPathogenic
EMC1-AS1, FAM43B
+221 more
Copy number loss
See cases
GPathogenic
AKR7A2, AKR7A3
+57 more
Copy number loss
See cases
GPathogenic
CAMK2N1, CDA
+81 more
Copy number loss
See cases
GUncertain significance
PLA2G2A
(R143H)
Single nucleotide variant
(missense variant)
PLA2G2A-related condition
GBenign
PLA2G2A
(K135E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLA2G2A
(S105G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLA2G2A
(G80V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLA2G2A
(R62C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLA2G2A
(C48fs)
Microsatellite
(frameshift variant)
Familial colorectal cancer
GPathogenic
PLA2G2A
Single nucleotide variant
(synonymous variant)
PLA2G2A-related condition
GBenign
PLA2G2A
Single nucleotide variant
(synonymous variant)
PLA2G2A-related condition
GBenign
PLA2G2A
(H19Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PLA2G2A
(A18T)
Single nucleotide variant
(missense variant)
PLA2G2A-related condition
GLikely benign
PLA2G2A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACTL8, AKR7A2
+58 more
Copy number loss
not specified
GPathogenic
ACTL8, AKR7A2
+22 more
Copy number gain
not provided
GUncertain significance
ACTL8, AKR7A2
+65 more
Copy number gain
not provided
GLikely pathogenic
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
KIF17, LDLRAD2
+49 more
Duplication
Congenital disorder of glycosylation type Ir
+2 more
GUncertain significance
AKR7A2, AKR7A3
+77 more
Duplication
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
FAM43B, HP1BP3
+77 more
Copy number loss
1p36.1 deletion syndrome
GPathogenic
EMC1, EPHA2
+73 more
Copy number loss
not provided
GPathogenic
AKR7A3, AKR7L
+51 more
Copy number loss
not provided
GPathogenic
PLA2G2F, PLA2G5
+8 more
Copy number gain
not provided
GUncertain significance
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
TMCO4, HTR6
+9 more
Copy number gain
See cases
GUncertain significance
ACTL8, AKR7A2
+88 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
C1orf159, C1orf167
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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