"GeneDx"[submitter] AND "LOC129933686"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 1210764	NM_001305625.2(CALM2):c.-181A>C	CALM2, LOC129933686	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1198125	NM_001305625.2(CALM2):c.-186A>G	CALM2, LOC129933686	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

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