"TPM2-Related Disorders"[Disease/phenotype] AND "Illumina Laboratory S - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632041	NM_003289.4(TPM2):c.712C>T (p.Arg238Ter)	TPM2 (R238*)	Single nucleotide variant (nonsense)	TPM2-Related Disorders	GUncertain significance
Select item 632042	NM_003289.4(TPM2):c.663T>A (p.Tyr221Ter)	TPM2 (Y221*)	Single nucleotide variant (nonsense)	Arthrogryposis, distal, type 1A +1 more	GConflicting classifications of pathogenicity