ClinVar for PubMed (Select 11461952) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953890	NM_000278.5(PAX2):c.117_121del (p.Gln39fs)	PAX2 (Q39fs +1 more)	Deletion (frameshift variant)	Renal coloboma syndrome +1 more	GPathogenic
Select item 2424804	NC_000010.10:g.(?_102283594)_(102510668_?)del	NDUFB8, HIF1AN +1 more	Deletion	Renal coloboma syndrome +1 more	GPathogenic
Select item 2152092	NM_000278.5(PAX2):c.792+2T>C	PAX2	Single nucleotide variant (splice donor variant)	Renal coloboma syndrome +1 more	GPathogenic
Select item 2129979	NM_000278.5(PAX2):c.242del (p.Gly81fs)	PAX2 (G112fs +1 more)	Deletion (frameshift variant)	Renal coloboma syndrome +1 more	GPathogenic
Select item 2117050	NM_000278.5(PAX2):c.43+1G>A	PAX2	Single nucleotide variant (splice donor variant)	Renal coloboma syndrome +1 more	GPathogenic
Select item 2086859	NM_000278.5(PAX2):c.212+1G>T	PAX2	Single nucleotide variant (splice donor variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely pathogenic
Select item 2032137	NM_000278.5(PAX2):c.97del (p.Leu33fs)	PAX2 (L33fs +1 more)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic
Select item 2027274	NM_000278.5(PAX2):c.225del (p.Gly76fs)	PAX2 (G107fs +1 more)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic
Select item 2024087	NM_000278.5(PAX2):c.115del (p.Gln39fs)	PAX2 (Q39fs +1 more)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic
Select item 2022166	NM_000278.5(PAX2):c.227dup (p.Ser77fs)	PAX2 (S108fs +1 more)	Duplication (frameshift variant)	Renal coloboma syndrome +1 more	GPathogenic
Select item 1938485	NM_000278.5(PAX2):c.750C>A (p.Tyr250Ter)	PAX2 (Y273* +2 more)	Single nucleotide variant (nonsense)	Renal coloboma syndrome +1 more	GPathogenic
Select item 1910228	NM_000278.5(PAX2):c.44-2A>G	PAX2	Single nucleotide variant (splice acceptor variant)	Renal coloboma syndrome +1 more	GLikely pathogenic
Select item 1509780	NC_000010.10:g.(?_102539235)_(102569013_?)dup	PAX2	Duplication	Renal coloboma syndrome +1 more	GLikely pathogenic
Select item 1419850	NM_000278.5(PAX2):c.785C>A (p.Ser262Ter)	PAX2 (S262* +2 more)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic
Select item 1351546	NM_000278.5(PAX2):c.483del (p.Gly162fs)	PAX2 (G193fs +1 more)	Deletion (frameshift variant)	Renal coloboma syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1076561	NM_000278.5(PAX2):c.430C>T (p.Gln144Ter)	PAX2 (Q144* +1 more)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic
Select item 1073074	NC_000010.10:g.(?_102566167)_(102566382_?)del	PAX2	Deletion	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic
Select item 974490	NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)	PAX2 (R115* +1 more)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic
Select item 156297	NM_000278.5(PAX2):c.76dup (p.Val26fs)	PAX2 (V26fs +1 more)	Duplication (frameshift variant)	Renal coloboma syndrome +3 more	GPathogenic
Select item 156296	NM_000278.5(PAX2):c.706C>T (p.Gln236Ter)	PAX2 (Q236* +2 more)	Single nucleotide variant (nonsense)	Renal coloboma syndrome	GPathogenic
Select item 156294	NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)	PAX2 (R229* +2 more)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 7 +2 more	GPathogenic
Select item 13803	NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter)	PAX2 (Y341* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 13801	NM_000278.5(PAX2):c.76del (p.Val26fs)	PAX2 (V26fs +1 more)	Deletion (frameshift variant)	PAX2-related disorder +2 more	GPathogenic

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Items: 23