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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM260
Single nucleotide variant
(intron variant)
Structural heart defects and renal anomalies syndrome
GUncertain significance
TMEM260
(W491*)
Single nucleotide variant
(nonsense)
Structural heart defects and renal anomalies syndrome
GLikely pathogenic