"GeneDx"[submitter] AND "LOC130056772"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 1181468	NM_001321759.2(CDIN1):c.-105C>T	CDIN1, LOC130056772	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia type type 1B +1 more	GBenign

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