"Clinical Genetics, Academic Medical Center"[submitter] AND "PXDN"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260230	NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu)	PXDN (G1363E)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +2 more	GBenign/Likely benign
Select item 766917	NM_012293.3(PXDN):c.3743+9G>A	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7	GLikely benign
Select item 772146	NM_012293.3(PXDN):c.3165C>T (p.Pro1055=)	PXDN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1284828	NM_012293.3(PXDN):c.2151C>T (p.Ile717=)	PXDN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 787553	NM_012293.3(PXDN):c.969C>T (p.Ala323=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7	GBenign
Select item 1284869	NM_012293.3(PXDN):c.773C>T (p.Thr258Ile)	PXDN (T258I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328070	NM_012293.3(PXDN):c.165G>A (p.Glu55=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7	GLikely benign
Select item 707047	NM_012293.3(PXDN):c.19G>T (p.Gly7Cys)	PXDN (G7C)	Single nucleotide variant (missense variant)	PXDN-related disorder +2 more	GConflicting classifications of pathogenicity

ClinVar