"Undiagnosed Diseases Network, NIH"[submitter] AND "PIEZO2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 489219	NM_001378183.1(PIEZO2):c.5257-1G>A	PIEZO2	Single nucleotide variant (splice acceptor variant)	Arthrogryposis, distal, with impaired proprioception and touch +1 more	GPathogenic
Select item 489220	NM_001378183.1(PIEZO2):c.1528-1G>A	PIEZO2	Single nucleotide variant (splice acceptor variant)	Arthrogryposis, distal, with impaired proprioception and touch +1 more	GLikely pathogenic