"GeneDx"[submitter] AND "LOC130055618"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 58308	GRCh38/hg38 14q22.1(chr14:50713909-50954844)x3	ABHD12B, LOC105370489 +23 more	Copy number gain	See cases	GUncertain significance
Select item 313334	NM_002863.4(PYGL):c.-127A>G	LOC130055618, PYGL	Single nucleotide variant	not provided +1 more	GBenign
Select item 1174454	NC_000014.9:g.50944631A>G	LOC130055618, PYGL	Single nucleotide variant	not provided	GBenign
Select item 1707099	NC_000014.9:g.50944657G>T	LOC130055618, PYGL	Single nucleotide variant	not provided	GLikely benign

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