"GeneDx"[submitter] AND "LOC130064896"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 329833	NM_002103.5(GYS1):c.-125C>T	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 329836	NM_002103.5(GYS1):c.-182T>G	GYS1, LOC130064896	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 369287	NM_002103.4(GYS1):c.-253delG	GYS1, LOC130064896	Deletion	not provided +1 more	GLikely benign
Select item 1220082	NC_000019.10:g.48993421T>C	GYS1, LOC130064896	Single nucleotide variant	not provided	GLikely benign
Select item 1237894	NC_000019.10:g.48993529C>T	LOC130064896, RUVBL2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

ClinVar