"GeneDx"[submitter] AND "PAX2"[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 1277635	NM_001304569.2(PAX2):c.26-803A>T	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190550	NM_000278.5(PAX2):c.-679A>G	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1245518	NM_000278.5(PAX2):c.-659C>A	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1218939	NM_000278.5(PAX2):c.-556C>T	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1188097	NM_000278.5(PAX2):c.-555G>T	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1210888	NM_000278.5(PAX2):c.-414C>T	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1175431	NM_000278.5(PAX2):c.-375C>A	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1250881	NM_000278.5(PAX2):c.-203A>G	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1256887	NM_000278.5(PAX2):c.-160G>T	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1223183	NM_000278.5(PAX2):c.-94C>T	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1311980	NM_000278.5(PAX2):c.26C>G (p.Pro9Arg)	PAX2 (P40R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 94387	NM_000278.5(PAX2):c.43+10G>C	PAX2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1257133	NM_000278.5(PAX2):c.43+43C>A	PAX2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1198436	NM_000278.5(PAX2):c.44-280C>T	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274301	NM_000278.5(PAX2):c.44-228A>C	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216116	NM_000278.5(PAX2):c.44-216C>A	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279205	NM_000278.5(PAX2):c.44-180T>C	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223864	NM_000278.5(PAX2):c.44-48G>C	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3252765	NM_000278.5(PAX2):c.59T>G (p.Val20Gly)	PAX2 (V20G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3252667	NM_000278.5(PAX2):c.89G>A (p.Gly30Asp)	PAX2 (G30D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368778	NM_000278.5(PAX2):c.140A>C (p.Gln47Pro)	PAX2 (Q47P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224175	NM_000278.5(PAX2):c.212+300C>T	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267595	NM_000278.5(PAX2):c.213-157G>A	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 636659	NM_000278.5(PAX2):c.226G>C (p.Gly76Arg)	PAX2 (G76R +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +3 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 419192	NM_000278.5(PAX2):c.240_244dup (p.Val82fs)	PAX2 (V113fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3364987	NM_000278.5(PAX2):c.274_288del (p.Thr92_Val96del)	PAX2	Deletion	not provided	GUncertain significance
Select item 3373263	NM_000278.5(PAX2):c.286G>C (p.Val96Leu)	PAX2 (V127L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340588	NM_000278.5(PAX2):c.331G>A (p.Ala111Thr)	PAX2 (A111T +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 94386	NM_000278.5(PAX2):c.360C>T (p.Ala120=)	PAX2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 817231	NM_000278.5(PAX2):c.364_365dup (p.Ile123fs)	PAX2 (I154fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3340714	NM_000278.5(PAX2):c.410+1G>A	PAX2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1223772	NM_000278.5(PAX2):c.410+204G>T	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2663416	NM_000278.5(PAX2):c.418C>G (p.Arg140Gly)	PAX2 (R140G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304559	NM_000278.5(PAX2):c.419G>A (p.Arg140Gln)	PAX2 (R140Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely 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 1189782	NM_000278.5(PAX2):c.496+88G>A	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246835	NM_000278.5(PAX2):c.496+89C>G	PAX2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1278745	NM_000278.5(PAX2):c.497-232del	PAX2	Deletion (intron variant)	not provided	GBenign
Select item 860696	NM_000278.5(PAX2):c.616+6G>C	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +2 more	GUncertain significance
Select item 515521	NM_000278.5(PAX2):c.616+12G>A	PAX2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1191206	NM_000278.5(PAX2):c.616+272C>T	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261290	NM_000278.5(PAX2):c.616+326G>A	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191768	NM_000278.5(PAX2):c.616+5275G>T	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230388	NM_000278.5(PAX2):c.616+5337C>T	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1218007	NM_000278.5(PAX2):c.617-96T>G	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1499630	NM_000278.5(PAX2):c.656G>A (p.Ser219Asn)	PAX2 (S250N +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +2 more	GUncertain significance
Select item 2502607	NM_000278.5(PAX2):c.692A>G (p.Asp231Gly)	PAX2 (D231G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169947	NM_000278.5(PAX2):c.792+9G>A	PAX2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1301179	NM_000278.5(PAX2):c.792+42G>A	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239223	NM_000278.5(PAX2):c.792+152T>C	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280921	NM_000278.5(PAX2):c.792+162T>A	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254716	NM_000278.5(PAX2):c.792+169G>A	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229007	NM_000278.5(PAX2):c.792+229T>C	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216996	NM_000278.5(PAX2):c.793-282G>A	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257545	NM_000278.5(PAX2):c.793-41G>A	PAX2	Single nucleotide variant (intron variant)	not provided	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 534188	NM_000278.5(PAX2):c.867C>G (p.Asn289Lys)	PAX2 (N312K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 156300	NM_000278.5(PAX2):c.909A>C (p.Pro303=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +3 more	GBenign
Select item 1222944	NM_000278.5(PAX2):c.919+248C>T	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289243	NM_000278.5(PAX2):c.920-294AC[22]	PAX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1287716	NM_000278.5(PAX2):c.920-294AC[23]	PAX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1238655	NM_000278.5(PAX2):c.920-294AC[24]	PAX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1236452	NM_000278.5(PAX2):c.920-294AC[26]	PAX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1231172	NM_000278.5(PAX2):c.920-294AC[25]	PAX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1238789	NM_000278.5(PAX2):c.920-294AC[18]	PAX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1196351	NM_000278.5(PAX2):c.920-211G>A	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 156301	NM_000278.5(PAX2):c.932C>T (p.Ala311Val)	PAX2 (A311V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1063392	NM_000278.5(PAX2):c.976G>A (p.Gly326Ser)	PAX2 (G326S +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +2 more	GUncertain significance
Select item 1228920	NM_000278.5(PAX2):c.1021+91G>A	PAX2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1254018	NM_000278.5(PAX2):c.1022-116G>C	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233985	NM_000278.5(PAX2):c.1022-43T>C	PAX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215258	NM_000278.5(PAX2):c.1022-33G>A	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211864	NM_000278.5(PAX2):c.1108+37G>A	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200819	NM_000278.5(PAX2):c.1109-138C>T	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201683	NM_000278.5(PAX2):c.1109-82T>A	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3365096	NM_000278.5(PAX2):c.1157C>A (p.Ala386Asp)	PAX2 (A386D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1205444	NM_000278.5(PAX2):c.*55C>G	PAX2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1252586	NM_000278.5(PAX2):c.*99C>T	PAX2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224267	NM_000278.5(PAX2):c.*198T>C	PAX2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1192969	NM_000278.5(PAX2):c.*223C>A	PAX2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1288961	NM_000278.5(PAX2):c.*224G>A	PAX2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3361073	NM_000278.5(PAX2):c.889T>G (p.Ser297Ala)	PAX2 (S297A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360969	NM_000278.5(PAX2):c.937_938del (p.Thr313fs)	PAX2 (T313fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 88