"GeneDx"[submitter] AND "LOC130058947"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +203 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	C16orf78, HNRNPA1L3 +205 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	LOC130058939, LOC130058940 +210 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +211 more	Copy number loss	See cases	GPathogenic
Select item 384782	NM_000293.2(PHKB):c.-45A>G	LOC130058947, PHKB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511596	NM_000293.3(PHKB):c.-8G>C	LOC130058947, PHKB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 887974	NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)	LOC130058947, PHKB (G3A)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb +1 more	GUncertain significance

ClinVar