Related gene-specific medical variations for Gene (Select 7837) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064201	NM_012293.3(PXDN):c.3609-1G>C	PXDN	Single nucleotide variant (splice acceptor variant)	Anterior segment dysgenesis 7	GPathogenic
Select item 3064154	NM_012293.3(PXDN):c.1018+1G>A	PXDN	Single nucleotide variant (splice donor variant)	Anterior segment dysgenesis 7	GLikely pathogenic
Select item 3064080	NM_012293.3(PXDN):c.2920G>A (p.Gly974Arg)	PXDN (G974R)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7	GUncertain significance
Select item 2432899	NM_012293.3(PXDN):c.3743+2T>G	PXDN	Single nucleotide variant (splice donor variant)	Anterior segment dysgenesis 7	GLikely pathogenic
Select item 260218	NM_012293.3(PXDN):c.1239T>C (p.Ser413=)	PXDN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 260217	NM_012293.3(PXDN):c.*1G>T	PXDN	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign

ClinVar