"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235839	NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)	PIEZO2 (E2727del +1 more)	Microsatellite (inframe_deletion)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +2 more	GPathogenic
Select item 930886	NM_001378183.1(PIEZO2):c.8081+19A>C	PIEZO2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch	GUncertain significance
Select item 445793	NM_001378183.1(PIEZO2):c.7969G>A (p.Ala2657Thr)	PIEZO2 (A2544T +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 931580	NM_001378183.1(PIEZO2):c.2743G>C (p.Gly915Arg)	PIEZO2 (G915R +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch	GUncertain significance
Select item 930615	NM_001378183.1(PIEZO2):c.1543T>A (p.Tyr515Asn)	PIEZO2 (Y515N)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch	GUncertain significance
Select item 931249	NM_001378183.1(PIEZO2):c.330-2dup	PIEZO2	Duplication (splice acceptor variant)	Arthrogryposis, distal, with impaired proprioception and touch +1 more	GUncertain significance

ClinVar