"GeneDx"[submitter] AND "LOC130066962"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 678642	NM_006440.3(TXNRD2):c.-193C>T	COMT, LOC130066962 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185877	NC_000022.11:g.19942002T>C	COMT, LOC130066962 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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