C0220666[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	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)	Distal arthrogryposis +2 more	GPathogenic
Select item 2584961	NM_001378183.1(PIEZO2):c.8140C>T (p.Pro2714Ser)	PIEZO2 (P2714S +2 more)	Single nucleotide variant (missense variant)	Gordon syndrome	GUncertain significance
Select item 2585600	NM_001378183.1(PIEZO2):c.3193G>T (p.Asp1065Tyr)	PIEZO2 (D1065Y +1 more)	Single nucleotide variant (missense variant)	Gordon syndrome	GUncertain significance

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