"3billion"[submitter] AND "PIEZO2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137629	NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	PIEZO2 (R2686H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 137630	NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys)	PIEZO2 (R2686C +1 more)	Single nucleotide variant (missense variant)	Gordon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2444167	NM_001378183.1(PIEZO2):c.7186G>T (p.Glu2396Ter)	PIEZO2 (E2283* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis, distal, with impaired proprioception and touch	GPathogenic
Select item 2572475	NM_001378183.1(PIEZO2):c.7107dup (p.Leu2370fs)	PIEZO2 (L2257fs +2 more)	Duplication (frameshift variant)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic
Select item 1320154	NM_001378183.1(PIEZO2):c.6828-8_6829del	PIEZO2	Deletion (splice acceptor variant)	Arthrogryposis, distal, with impaired proprioception and touch	GPathogenic
Select item 2572505	NM_001378183.1(PIEZO2):c.1766del (p.Phe589fs)	PIEZO2 (F589fs)	Deletion (frameshift variant)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic
Select item 1320155	NM_001378183.1(PIEZO2):c.704-2A>G	PIEZO2	Single nucleotide variant (splice acceptor variant)	Arthrogryposis, distal, with impaired proprioception and touch	GPathogenic

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