"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PAX2"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156297	NM_000278.5(PAX2):c.76dup (p.Val26fs)	PAX2 (V26fs +1 more)	Duplication (frameshift variant)	Renal coloboma syndrome +2 more	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
Select item 1534616	NM_000278.5(PAX2):c.212+12G>A	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GBenign/Likely benign
Select item 707348	NM_000278.5(PAX2):c.213-8C>T	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GBenign/Likely benign
Select item 13800	NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)	PAX2	Duplication (inframe_insertion)	Focal segmental glomerulosclerosis 7 +1 more	GLikely pathogenic
Select item 465775	NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)	PAX2 (P80L +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +2 more	GPathogenic/Likely pathogenic
Select item 790302	NM_000278.5(PAX2):c.240G>A (p.Pro80=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 1072593	NM_000278.5(PAX2):c.250G>A (p.Gly84Ser)	PAX2 (G115S +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GPathogenic
Select item 1410004	NM_000278.5(PAX2):c.320C>T (p.Pro107Leu)	PAX2 (P107L +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 974490	NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)	PAX2 (R115* +1 more)	Single nucleotide variant (nonsense)	Renal coloboma syndrome +1 more	GPathogenic
Select item 712771	NM_000278.5(PAX2):c.354C>T (p.Leu118=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +2 more	GLikely benign
Select item 1579084	NM_000278.5(PAX2):c.411-11C>T	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 1066591	NM_000278.5(PAX2):c.418C>T (p.Arg140Trp)	PAX2 (R140W +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic
Select item 735366	NM_000278.5(PAX2):c.450G>A (p.Thr150=)	PAX2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1405898	NM_000278.5(PAX2):c.452C>A (p.Pro151Gln)	PAX2 (P182Q +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 1299920	NM_000278.5(PAX2):c.477C>T (p.Thr159=)	PAX2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1351546	NM_000278.5(PAX2):c.483del (p.Gly162fs)	PAX2 (G193fs +1 more)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic/Likely pathogenic
Select item 1025376	NM_000278.5(PAX2):c.491C>A (p.Thr164Asn)	PAX2 (T164N +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +3 more	GUncertain significance
Select item 1090718	NM_000278.5(PAX2):c.496+9G>T	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 1584878	NM_000278.5(PAX2):c.528C>T (p.Ser176=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 1524244	NM_000278.5(PAX2):c.529G>A (p.Ala177Thr)	PAX2 (A208T +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +2 more	GUncertain significance
Select item 862725	NM_000278.5(PAX2):c.563A>G (p.Asn188Ser)	PAX2 (N188S +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 1034942	NM_000278.5(PAX2):c.584G>A (p.Arg195His)	PAX2 (R195H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 419700	NM_000278.5(PAX2):c.616+5648T>C	LOC110120845, PAX2	Single nucleotide variant (intron variant +1 more)	Renal coloboma syndrome +2 more	GPathogenic/Likely pathogenic
Select item 424189	NM_000278.5(PAX2):c.641A>G (p.Asn214Ser)	PAX2 (N237S +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +3 more	GUncertain significance
Select item 156294	NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)	PAX2 (R229* +2 more)	Single nucleotide variant (nonsense)	Renal coloboma syndrome +2 more	GPathogenic
Select item 1571359	NM_000278.5(PAX2):c.735T>C (p.Phe245=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 1519609	NM_000278.5(PAX2):c.739C>T (p.Arg247Cys)	PAX2 (R247C +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 534187	NM_000278.5(PAX2):c.740G>A (p.Arg247His)	PAX2 (R247H +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 1184398	NM_000278.5(PAX2):c.757G>A (p.Val253Ile)	PAX2 (V253I +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 1333293	NM_000278.5(PAX2):c.791del (p.Gln264fs)	PAX2 (Q264fs +2 more)	Deletion (frameshift variant)	Renal coloboma syndrome +1 more	GLikely pathogenic
Select item 1169947	NM_000278.5(PAX2):c.792+9G>A	PAX2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 156298	NM_000278.5(PAX2):c.798C>T (p.Asn266=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +3 more	GBenign
Select item 772959	NM_000278.5(PAX2):c.819G>C (p.Leu273=)	PAX2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1416472	NM_000278.5(PAX2):c.845C>T (p.Ser282Leu)	PAX2 (S282L +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 1572468	NM_000278.5(PAX2):c.954C>T (p.Tyr318=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 1164491	NM_000278.5(PAX2):c.963C>T (p.His321=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GBenign/Likely benign
Select item 1159680	NM_000278.5(PAX2):c.1021+137C>T	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 1179209	GRCh37/hg19 10q24.31(chr10:102568846-102589718)	PAX2	Copy number loss	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic

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Items: 39