"ITMI"[submitter] AND "CEP128"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6430	NM_000369.5(TSHR):c.106G>C (p.Asp36His)	CEP128, TSHR (D36H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 135391	NM_000369.5(TSHR):c.145A>G (p.Ser49Gly)	CEP128, TSHR (S49G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 135392	NM_000369.5(TSHR):c.154C>A (p.Pro52Thr)	CEP128, TSHR (P52T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign

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