"GeneDx"[submitter] AND "PHACTR1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1289844	NM_030948.6(PHACTR1):c.251-149640A>G	PHACTR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3372666	NM_030948.6(PHACTR1):c.416-1G>T	PHACTR1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3342780	NM_030948.6(PHACTR1):c.1235-1G>C	PHACTR1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 59498	GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3	GFOD1, GFOD1-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3342636	NM_030948.6(PHACTR1):c.1713T>G (p.Ser571Arg)	LOC100130357, PHACTR1 +1 more (S479R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

ClinVar