C4310692[trait identifier] AND "Biochemical Molecular Genetic Laborato - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800882	NM_001378183.1(PIEZO2):c.6055C>T (p.Arg2019Ter)	PIEZO2 (R1906* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic
Select item 800806	NM_001378183.1(PIEZO2):c.4244_4245del (p.Thr1415fs)	PIEZO2 (T1390fs +1 more)	Microsatellite (frameshift variant)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic