"GeneDx"[submitter] AND "PITX1-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 59471	GRCh38/hg38 5q31.1(chr5:134873523-135297352)x3	CATSPER3, EPIST +14 more	Copy number gain	See cases	GUncertain significance
Select item 1278728	NM_002653.5(PITX1):c.169+145C>T	PITX1, PITX1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315054	NM_002653.5(PITX1):c.139G>T (p.Ala47Ser)	PITX1, PITX1-AS1 (A47S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706129	NM_002653.5(PITX1):c.77A>C (p.Asp26Ala)	PITX1-AS1, PITX1 (D26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274487	NM_002653.5(PITX1):c.-221G>T	PITX1, PITX1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1268490	NM_002653.5(PITX1):c.-293AGCCGG[3]	PITX1, PITX1-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1275056	NC_000005.10:g.135034491C>T	PITX1-AS1, PITX1	Single nucleotide variant	not provided	GBenign

ClinVar