"Baylor Genetics"[submitter] AND "SECISBP2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028292	NM_024077.5(SECISBP2):c.137C>G (p.Ser46Cys)	SECISBP2 (S46C)	Single nucleotide variant (missense variant +2 more)	Thyroid hormone metabolism, abnormal 1	GUncertain significance
Select item 2582503	NM_024077.5(SECISBP2):c.1089+2T>C	SECISBP2	Single nucleotide variant (splice donor variant)	Thyroid hormone metabolism, abnormal 1	GPathogenic
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic

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