PAX2[gene] - ClinVar - NCBI

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	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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148599	GRCh38/hg38 10q24.31(chr10:100677717-100764519)x1	LOC130004535, PAX2	Copy number loss	See cases	GPathogenic
Select item 2640758	NM_001304569.2(PAX2):c.13G>A (p.Ala5Thr)	PAX2 (A5T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049110	NM_001304569.2(PAX2):c.25+6A>T	PAX2	Single nucleotide variant (intron variant)	PAX2-related disorder	GLikely benign
Select item 1326988	NM_001304569.2(PAX2):c.25+31A>G	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GBenign
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 3035825	NM_000278.5(PAX2):c.-37G>T	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	PAX2-related disorder	GLikely benign
Select item 3029745	NM_000278.5(PAX2):c.-4C>T	PAX2	Single nucleotide variant (5 prime UTR variant +1 more)	PAX2-related disorder	GLikely benign
Select item 599177	NM_000278.5(PAX2):c.1A>G (p.Met1Val)	PAX2 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 7	GUncertain significance
Select item 2040039	NM_000278.5(PAX2):c.8T>C (p.Met3Thr)	PAX2 (M3T +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 1379778	NM_000278.5(PAX2):c.8T>A (p.Met3Lys)	PAX2 (M34K +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
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 1323415	NM_000278.5(PAX2):c.34_43+26delinsTGT	PAX2	Indel (splice donor variant)	not provided	GPathogenic
Select item 2928517	NM_000278.5(PAX2):c.36G>C (p.Ala12=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
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 2937238	NM_000278.5(PAX2):c.43+3G>A	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 807455	NM_000278.5(PAX2):c.43+5G>A	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GConflicting classifications of pathogenicity
Select item 235286	NM_000278.5(PAX2):c.43+5G>T	PAX2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1631272	NM_000278.5(PAX2):c.43+9C>A	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2938694	NM_000278.5(PAX2):c.43+10G>A	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 94387	NM_000278.5(PAX2):c.43+10G>C	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +3 more	GBenign
Select item 2938695	NM_000278.5(PAX2):c.43+12C>G	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2938355	NM_000278.5(PAX2):c.43+12C>A	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 1604036	NM_000278.5(PAX2):c.43+13G>T	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GBenign
Select item 2140991	NM_000278.5(PAX2):c.43+20T>C	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 1257133	NM_000278.5(PAX2):c.43+43C>A	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +2 more	GBenign
Select item 3066355	NM_000278.5(PAX2):c.43+934G>C	PAX2	Single nucleotide variant (3 prime UTR variant +1 more)	Renal coloboma syndrome	GUncertain significance
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 930167	NM_000278.5(PAX2):c.44-12_44-8dup	PAX2	Duplication (intron variant)	Focal segmental glomerulosclerosis 7 +2 more	GUncertain significance
Select item 2921811	NM_000278.5(PAX2):c.44-8C>G	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 156292	NM_000278.3(PAX2):c.44_46delCAG	PAX2	Microsatellite (genic downstream transcript variant)	not provided	Gnot provided
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 1107795	NM_000278.5(PAX2):c.48G>A (p.Gly16=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2084767	NM_000278.5(PAX2):c.54G>T (p.Gly18=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 217288	NM_000278.5(PAX2):c.58_64dup (p.Gln22fs)	PAX2 (Q53fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 156293	NM_000278.5(PAX2):c.59del (p.Val20fs)	PAX2 (V51fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 156295	NM_000278.5(PAX2):c.68del (p.Leu23fs)	PAX2 (L23fs +1 more)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 2922215	NM_000278.5(PAX2):c.69C>T (p.Leu23=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 1879142	NM_000278.5(PAX2):c.69del (p.Val26fs)	PAX2 (V26fs +1 more)	Deletion (frameshift variant)	not provided	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 13802	NM_000278.5(PAX2):c.75_76dup (p.Val26fs)	PAX2 (V26fs +1 more)	Duplication (frameshift variant)	Renal coloboma syndrome	GPathogenic
Select item 1479027	NM_000278.5(PAX2):c.70G>A (p.Gly24Arg)	PAX2 (G55R +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely pathogenic
Select item 974525	NM_000278.5(PAX2):c.70G>T (p.Gly24Trp)	PAX2 (G24W +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GLikely pathogenic
Select item 836075	NM_000278.5(PAX2):c.70G>C (p.Gly24Arg)	PAX2 (G24R +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 13801	NM_000278.5(PAX2):c.76del (p.Val26fs)	PAX2 (V26fs +1 more)	Deletion (frameshift variant)	Renal coloboma syndrome +2 more	GPathogenic
Select item 2953821	NM_000278.5(PAX2):c.71G>T (p.Gly24Val)	PAX2 (G24V +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GLikely pathogenic
Select item 2606086	NM_000278.5(PAX2):c.71G>A (p.Gly24Glu)	PAX2 (G55E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1060180	NM_000278.5(PAX2):c.71G>C (p.Gly24Ala)	PAX2 (G24A +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1104901	NM_000278.5(PAX2):c.72G>A (p.Gly24=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 1607428	NM_000278.5(PAX2):c.75G>T (p.Gly25=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2048050	NM_000278.5(PAX2):c.76G>A (p.Val26Met)	PAX2 (V26M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1480878	NM_000278.5(PAX2):c.76G>C (p.Val26Leu)	PAX2 (V26L +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 1409546	NM_000278.5(PAX2):c.76G>T (p.Val26Leu)	PAX2 (V26L +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2110963	NM_000278.5(PAX2):c.92G>A (p.Arg31Gln)	PAX2 (R62Q +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
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 1609814	NM_000278.5(PAX2):c.96C>G (p.Pro32=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +2 more	GLikely benign
Select item 2159251	NM_000278.5(PAX2):c.102C>T (p.Pro34=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 1930128	NM_000278.5(PAX2):c.103G>C (p.Asp35His)	PAX2 (D66H +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 1377007	NM_000278.5(PAX2):c.103G>A (p.Asp35Asn)	PAX2 (D66N +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 562362	NM_000278.5(PAX2):c.113G>A (p.Arg38Lys)	PAX2 (R38K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3051092	NM_000278.5(PAX2):c.114G>A (p.Arg38=)	PAX2	Single nucleotide variant (synonymous variant)	PAX2-related disorder	GLikely benign
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 2633496	NM_000278.5(PAX2):c.115C>T (p.Gln39Ter)	PAX2 (Q39* +1 more)	Single nucleotide variant (nonsense)	PAX2-related disorder	GLikely pathogenic
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 156290	NM_000278.5(PAX2):c.115_120del (p.Gln39_Arg40del)	PAX2	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 1424374	NM_000278.5(PAX2):c.117G>T (p.Gln39His)	PAX2 (Q39H +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 217286	NM_000278.5(PAX2):c.119_120del (p.Arg40fs)	PAX2 (R40fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3208973	NM_000278.5(PAX2):c.118C>T (p.Arg40Cys)	PAX2 (R40C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1437935	NM_000278.5(PAX2):c.120C>T (p.Arg40=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 1610499	NM_000278.5(PAX2):c.123C>T (p.Ile41=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2444301	NM_000278.5(PAX2):c.125T>C (p.Val42Ala)	PAX2 (V42A +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GUncertain significance
Select item 722676	NM_000278.5(PAX2):c.129G>A (p.Glu43=)	PAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13797	NM_000278.5(PAX2):c.131_152del (p.Leu44fs)	PAX2 (L75fs +1 more)	Deletion (frameshift variant)	Renal coloboma syndrome	GPathogenic
Select item 2938192	NM_000278.5(PAX2):c.144T>C (p.Gly48=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2046758	NM_000278.5(PAX2):c.148C>A (p.Arg50=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 829843	NM_000278.5(PAX2):c.148C>T (p.Arg50Trp)	PAX2 (R81W +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GLikely pathogenic
Select item 3236379	NM_000278.5(PAX2):c.157G>A (p.Asp53Asn)	PAX2 (D53N +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GUncertain significance
Select item 1137804	NM_000278.5(PAX2):c.159C>T (p.Asp53=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 1446053	NM_000278.5(PAX2):c.165C>T (p.Ser55=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 155929	NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)	PAX2 (R56Q +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GPathogenic
Select item 2946747	NM_000278.5(PAX2):c.168G>A (p.Arg56=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 1538679	NM_000278.5(PAX2):c.174G>A (p.Leu58=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 1333274	NM_000278.5(PAX2):c.175C>T (p.Arg59Trp)	PAX2 (R59W +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic
Select item 2931601	NM_000278.5(PAX2):c.177G>A (p.Arg59=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign

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