ClinVar for Gene (Select 5076) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235023	NM_000278.5(PAX2):c.190T>C (p.Cys64Arg)	PAX2 (C64R +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GUncertain significance
Select item 3208975	NM_000278.5(PAX2):c.710A>G (p.Gln237Arg)	PAX2 (Q268R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208974	NM_000278.5(PAX2):c.363G>C (p.Glu121Asp)	PAX2 (E121D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3208972	NM_000278.5(PAX2):c.1096C>T (p.Pro366Ser)	PAX2 (P397S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068134	NM_000278.5(PAX2):c.389C>G (p.Pro130Arg)	PAX2 (P130R +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GLikely pathogenic
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 3064859	NM_000278.5(PAX2):c.495del (p.Ile165fs)	PAX2 (I165fs +1 more)	Deletion (frameshift variant)	Renal coloboma syndrome	GLikely pathogenic
Select item 3064194	NM_000278.5(PAX2):c.1109-2A>G	PAX2	Single nucleotide variant (splice acceptor variant +1 more)	Renal coloboma syndrome	GLikely pathogenic
Select item 3063946	NC_000010.10:g.(?_102505338)_(102510649_102539254)del	PAX2	Deletion	PAX2-related disorder	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
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 3049110	NM_001304569.2(PAX2):c.25+6A>T	PAX2	Single nucleotide variant (intron variant)	PAX2-related disorder	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 3032426	NM_000278.5(PAX2):c.616+5568T>C	LOC110120845, PAX2	Single nucleotide variant (intron variant)	PAX2-related disorder	GLikely benign
Select item 3031569	NM_000278.5(PAX2):c.195C>G (p.Val65=)	PAX2	Single nucleotide variant (synonymous variant)	PAX2-related disorder	GLikely benign
Select item 3031030	NM_000278.5(PAX2):c.602G>A (p.Arg201Lys)	PAX2 (R201K +1 more)	Single nucleotide variant (missense variant)	PAX2-related disorder	GUncertain significance
Select item 3030807	NM_000278.5(PAX2):c.722del (p.Leu241fs)	PAX2 (L241fs +2 more)	Deletion (frameshift variant)	PAX2-related disorder	GPathogenic
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 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 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 2953077	NM_000278.5(PAX2):c.326T>C (p.Met109Thr)	PAX2 (M109T +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2948019	NM_000278.5(PAX2):c.212+5G>A	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
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 2944069	NM_000278.5(PAX2):c.959C>G (p.Pro320Arg)	PAX2 (P320R +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2943646	NM_000278.5(PAX2):c.213-11T>C	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2943052	NM_000278.5(PAX2):c.510C>T (p.Ala170=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2943032	NM_000278.5(PAX2):c.919+20G>T	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2942339	NM_000278.5(PAX2):c.1023G>T (p.Gly341=)	PAX2 (G369V)	Single nucleotide variant (synonymous variant +1 more)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 2942077	NM_000278.5(PAX2):c.562A>G (p.Asn188Asp)	PAX2 (N188D +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 2941888	NM_000278.5(PAX2):c.496+8G>C	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2940263	NM_000278.5(PAX2):c.204C>T (p.Ile68=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
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 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 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 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 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 2936667	NM_000278.5(PAX2):c.751C>T (p.Pro251Ser)	PAX2 (P251S +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2936539	NM_000278.5(PAX2):c.551C>A (p.Ser184Tyr)	PAX2 (S215Y +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2932901	NM_000278.5(PAX2):c.917C>T (p.Thr306Ile)	PAX2 (T306I +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
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
Select item 2930550	NM_000278.5(PAX2):c.496+15G>C	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2928797	NM_000278.5(PAX2):c.234C>A (p.Ile78=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
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 2927709	NM_000278.5(PAX2):c.732C>T (p.Val244=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2926262	NM_000278.5(PAX2):c.496+7G>A	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2925258	NM_000278.5(PAX2):c.587C>T (p.Ser196Phe)	PAX2 (S196F +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2924756	NM_000278.5(PAX2):c.607C>T (p.Arg203Cys)	PAX2 (R203C +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2924528	NM_000278.5(PAX2):c.923G>A (p.Arg308His)	PAX2 (R308H +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2923942	NM_000278.5(PAX2):c.497-9C>G	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2922540	NM_000278.5(PAX2):c.608G>A (p.Arg203His)	PAX2 (R203H +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
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 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 2684617	GRCh37/hg19 10q24.31(chr10:102205412-102516321)x3	HIF1AN, NDUFB8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2683957	NM_000278.5(PAX2):c.212G>T (p.Arg71Met)	PAX2 (R102M +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic
Select item 2682638	NM_000278.5(PAX2):c.1021+167C>T	PAX2 (P346S)	Single nucleotide variant (missense variant +1 more)	Renal coloboma syndrome +1 more	GUncertain significance
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 2640758	NM_001304569.2(PAX2):c.13G>A (p.Ala5Thr)	PAX2 (A5T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637357	NM_000278.5(PAX2):c.*70C>G	PAX2	Single nucleotide variant (3 prime UTR variant)	PAX2-related disorder	GUncertain significance
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 2632522	NM_000278.5(PAX2):c.221_226del (p.Glu74_Thr75del)	PAX2	Deletion (inframe_deletion)	PAX2-related disorder	GUncertain significance
Select item 2631749	NM_000278.5(PAX2):c.182G>T (p.Ser61Ile)	PAX2 (S61I +1 more)	Single nucleotide variant (missense variant)	PAX2-related disorder	GLikely pathogenic
Select item 2628762	NM_000278.5(PAX2):c.491C>G (p.Thr164Ser)	PAX2 (T164S +1 more)	Single nucleotide variant (missense variant)	PAX2-related disorder +2 more	GUncertain significance
Select item 2628450	NM_000278.5(PAX2):c.203T>A (p.Ile68Asn)	PAX2 (I68N +1 more)	Single nucleotide variant (missense variant)	PAX2-related disorder	GUncertain significance
Select item 2627542	NM_000278.5(PAX2):c.793-1G>A	PAX2	Single nucleotide variant (splice acceptor variant)	Renal coloboma syndrome	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 2584792	NM_000278.5(PAX2):c.188G>A (p.Gly63Asp)	PAX2 (G63D +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome	GUncertain significance
Select item 2581031	NM_000278.5(PAX2):c.832G>T (p.Asp278Tyr)	PAX2 (D278Y +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2572592	NM_000278.5(PAX2):c.871G>T (p.Glu291Ter)	PAX2 (E291* +2 more)	Single nucleotide variant (nonsense)	Renal coloboma syndrome	GLikely pathogenic
Select item 2537542	NM_000278.5(PAX2):c.929T>A (p.Met310Lys)	PAX2 (M310K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2434580	NM_000278.5(PAX2):c.728G>C (p.Arg243Pro)	PAX2 (R243P +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +3 more	GUncertain significance
Select item 2431765	NM_000278.5(PAX2):c.358dup (p.Ala120fs)	PAX2 (A120fs +1 more)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 7	GLikely pathogenic
Select item 2424804	NC_000010.10:g.(?_102283594)_(102510668_?)del	NDUFB8, HIF1AN +1 more	Deletion	Renal coloboma syndrome +1 more	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 2420636	NM_000278.5(PAX2):c.797_798inv (p.Asn266Ser)	PAX2 (N266S +2 more)	Inversion (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2384438	NM_000278.5(PAX2):c.451C>G (p.Pro151Ala)	PAX2 (P182A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2354341	NM_000278.5(PAX2):c.590A>G (p.Asn197Ser)	PAX2 (N228S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301582	NM_000278.5(PAX2):c.808C>T (p.Leu270Phe)	PAX2 (L293F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298503	NM_000278.5(PAX2):c.344G>A (p.Arg115Gln)	PAX2 (R115Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257001	NM_000278.5(PAX2):c.910G>A (p.Val304Ile)	PAX2 (V304I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205234	NM_000278.5(PAX2):c.674G>A (p.Arg225Gln)	PAX2 (R248Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198054	NM_000278.5(PAX2):c.793-15TC[3]	PAX2	Microsatellite (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2194764	NM_000278.5(PAX2):c.449C>T (p.Thr150Met)	PAX2 (T150M +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 2194633	NM_000278.5(PAX2):c.273G>C (p.Ala91=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2178803	NM_000278.5(PAX2):c.858A>G (p.Ala286=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2178352	NM_000278.5(PAX2):c.680A>G (p.His227Arg)	PAX2 (H227R +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2170607	NM_000278.5(PAX2):c.686G>A (p.Arg229Gln)	PAX2 (R252Q +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +2 more	GUncertain significance
Select item 2161712	NM_000278.5(PAX2):c.273G>A (p.Ala91=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2160988	NM_000278.5(PAX2):c.1021+243A>G	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
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 2157908	NM_000278.5(PAX2):c.213-16G>A	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2153901	NM_000278.5(PAX2):c.432G>T (p.Gln144His)	PAX2 (Q175H +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 2152617	NM_000278.5(PAX2):c.350G>A (p.Arg117Gln)	PAX2 (R117Q +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
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 2149606	NM_000278.5(PAX2):c.1140_1142= (p.Arg380_Gly381=)	PAX2	Variation (no sequence alteration)	Renal coloboma syndrome +1 more	GBenign
Select item 2149087	NM_000278.5(PAX2):c.410+3G>A	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GUncertain significance

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