"GeneDx"[submitter] AND "LOC130006752"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 2444680	NM_024740.2(ALG9):c.131+6T>G	ALG9, LOC130006752	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 389995	NM_024740.2(ALG9):c.-11C>T	ALG9, LOC130006752	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388725	NM_024740.2(ALG9):c.-26C>T	ALG9, LOC130006752	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign

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