"GeneDx"[submitter] AND "LOC130002772"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
Select item 2504309	NM_000113.3(TOR1A):c.13_26delinsACGGC (p.Arg5_Gly9delinsThrAla)	LOC130002772, TOR1A	Indel (inframe_indel)	not provided	GUncertain significance
Select item 365238	NM_000113.2(TOR1A):c.-52T>G	TOR1A, LOC130002772	Single nucleotide variant	Early-onset generalized limb-onset dystonia +1 more	GBenign/Likely benign
Select item 1295835	NC_000009.12:g.129824189C>T	LOC130002772, TOR1A	Single nucleotide variant	not specified +1 more	GBenign
Select item 1265730	NC_000009.12:g.129824273T>A	LOC130002772, TOR1A	Single nucleotide variant	not provided	GBenign
Select item 1247077	NC_000009.12:g.129824309G>T	LOC130002772, TOR1A	Single nucleotide variant	not provided	GBenign

ClinVar