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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B4GAT1, BRMS1
+72 more
Duplication
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
RIN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RIN1
(V672I +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RIN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RIN1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
RIN1
(V518I +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
B4GAT1, BBS1
+7 more
Duplication
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
GUncertain significance
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
AP5B1, ARL2
+81 more
Deletion
Glycogen storage disease, type V
+1 more
GPathogenic
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