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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POR, LOC126860075
(A302P)
Single nucleotide variant
(missense variant)
POR-related disorder
+3 more
GPathogenic
POR
(R454H +1 more)
Single nucleotide variant
(missense variant +1 more)
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
+3 more
GPathogenic/Likely pathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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