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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC6
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCC6
(A1204T +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
GUncertain significance
ABCC6
(R1141* +1 more)
Single nucleotide variant
(nonsense)
ABCC6-related disorder
+7 more
GPathogenic
ABCC6
Single nucleotide variant
(splice donor variant)
Arterial calcification, generalized, of infancy, 2
+3 more
GPathogenic
ABCC6
(I632T +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
+4 more
GUncertain significance
ABCC6
(R518* +1 more)
Single nucleotide variant
(nonsense +1 more)
Arterial calcification, generalized, of infancy, 2
+4 more
GPathogenic
ABCC6
(A291V +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+2 more
GUncertain significance
ABCC6
(R265G +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudoxanthoma elasticum, forme fruste
+4 more
GBenign/Likely benign
ABCC6
(G157R +1 more)
Single nucleotide variant
(missense variant +1 more)
Arterial calcification, generalized, of infancy, 2
+3 more
GUncertain significance
ABCC1, ABCC6
+10 more
Copy number gain
not provided
GPathogenic
ABCC1, ABCC6
+10 more
Copy number gain
not provided
GPathogenic
ABCC1, ABCC6
+10 more
Copy number loss
not provided
GPathogenic
ABCC1, ABCC6
+8 more
Copy number gain
not provided
GPathogenic
ABCC1, ABCC6
+10 more
Copy number gain
not provided
GPathogenic
ABCC1, ABCC6
+7 more
Copy number loss
not provided
GPathogenic
ABCC1, ABCC6
+5 more
Copy number loss
not provided
GPathogenic
ABCC1, ABCC6
+6 more
Copy number loss
not provided
GPathogenic
BMERB1, ABCC1
+10 more
Copy number gain
not provided
GPathogenic
ABCC1, ABCC6
+10 more
Copy number gain
not provided
GPathogenic
ABCC1, ABCC6
+12 more
Copy number gain
not provided
GPathogenic
ABCC1, ABCC6
+12 more
Copy number gain
not provided
GPathogenic
ABCC1, ABCC6
+15 more
Copy number gain
not provided
GPathogenic
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