C4479566[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384334	NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)	PRUNE1 (D30N)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic
Select item 402131	NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)	PRUNE1 (D106N)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic