C4310692[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267268	NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met)	PIEZO2 (V1219M +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +1 more	GConflicting classifications of pathogenicity
Select item 374903	NM_001378183.1(PIEZO2):c.1550_1552delinsCGAA (p.Ser517fs)	PIEZO2 (S517fs)	Indel (frameshift variant)	Arthrogryposis, distal, with impaired proprioception and touch	GPathogenic