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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
LMF1, LMF1-AS1
(R35G)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
LMF1, LMF1-AS1
(R30H)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
LMF1, LMF1-AS1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
LMF1, LMF1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
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