"Genome-Nilou Lab"[submitter] AND "PXDN"[gene] - ClinVar - NCBI

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Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185418	NM_012293.3(PXDN):c.4206+81A>G	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1185419	NM_012293.3(PXDN):c.4206+79G>A	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1185420	NM_012293.3(PXDN):c.4206+73G>C	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1238679	NM_012293.3(PXDN):c.4074-40A>G	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 260229	NM_012293.3(PXDN):c.3953-14T>C	PXDN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260228	NM_012293.3(PXDN):c.3921A>G (p.Val1307=)	PXDN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 260224	NM_012293.3(PXDN):c.2892C>T (p.Asn964=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 260223	NM_012293.3(PXDN):c.2730A>C (p.Ile910=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 260220	NM_012293.3(PXDN):c.1836T>C (p.Asn612=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 1185421	NM_012293.3(PXDN):c.1567+67C>T	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1185422	NM_012293.3(PXDN):c.1408+164T>C	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1282738	NM_012293.3(PXDN):c.200+35C>T	PXDN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign