Related gene-specific medical variations for Gene (Select 58497) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065362	NM_021222.3(PRUNE1):c.264G>C (p.Glu88Asp)	PRUNE1 (E88D +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 3065109	NM_021222.3(PRUNE1):c.1264G>T (p.Asp422Tyr)	PRUNE1 (D221Y +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance