ClinVar for MedGen (Select 863362) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236800	NM_000278.5(PAX2):c.616+5649A>C	LOC110120845, PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7	GUncertain significance
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 3235236	NM_000278.5(PAX2):c.393C>G (p.Ser131Arg)	PAX2 (S131R +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7	GUncertain significance
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 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 2628762	NM_000278.5(PAX2):c.491C>G (p.Thr164Ser)	PAX2 (T164S +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +2 more	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 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	HIF1AN, NDUFB8 +1 more	Deletion	Focal segmental glomerulosclerosis 7 +1 more	GPathogenic
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 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
Select item 2146198	NM_000278.5(PAX2):c.461C>T (p.Ala154Val)	PAX2 (A154V +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2141103	NM_000278.5(PAX2):c.886G>A (p.Val296Met)	PAX2 (V296M +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +2 more	GUncertain significance
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 2129979	NM_000278.5(PAX2):c.242del (p.Gly81fs)	PAX2 (G112fs +1 more)	Deletion (frameshift variant)	Renal coloboma syndrome +1 more	GPathogenic
Select item 2128010	NM_000278.5(PAX2):c.1001C>A (p.Thr334Asn)	PAX2 (T365N +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 2127643	NM_000278.5(PAX2):c.793-14del	PAX2	Deletion (intron variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 2127614	NM_000278.5(PAX2):c.1021+210A>G	PAX2 (E360G)	Single nucleotide variant (missense variant +1 more)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 2123246	NM_000278.5(PAX2):c.659G>A (p.Gly220Asp)	PAX2 (G220D +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
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 2111907	NM_000278.5(PAX2):c.920-4C>T	PAX2	Single nucleotide variant (intron 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 2103162	NM_000278.5(PAX2):c.213-13T>C	PAX2	Single nucleotide variant (intron variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2100277	NM_000278.5(PAX2):c.792+16T>C	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2098640	NM_000278.5(PAX2):c.194T>C (p.Val65Ala)	PAX2 (V65A +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2097635	NM_000278.5(PAX2):c.1021+236G>C	PAX2	Single nucleotide variant (intron variant +1 more)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2093327	NM_000278.5(PAX2):c.311G>A (p.Arg104Gln)	PAX2 (R104Q +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 2089151	NM_000278.5(PAX2):c.520G>A (p.Val174Ile)	PAX2 (V205I +1 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	GUncertain significance
Select item 2087854	NM_000278.5(PAX2):c.198C>G (p.Ser66Arg)	PAX2 (S97R +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2086943	NM_000278.5(PAX2):c.1087T>G (p.Phe363Val)	PAX2 (D390E +3 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
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 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 2080403	NM_000278.5(PAX2):c.933G>A (p.Ala311=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2077901	NM_000278.5(PAX2):c.212+18G>A	PAX2	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2075006	NM_000278.5(PAX2):c.1021+196G>A	PAX2	Single nucleotide variant (synonymous variant +1 more)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2066628	NM_000278.5(PAX2):c.888G>T (p.Val296=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2062547	NM_000278.5(PAX2):c.310C>A (p.Arg104=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GLikely benign
Select item 2060792	NM_000278.5(PAX2):c.361G>A (p.Glu121Lys)	PAX2 (E121K +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2053115	NM_000278.5(PAX2):c.656G>C (p.Ser219Thr)	PAX2 (S219T +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2051034	NM_000278.5(PAX2):c.550T>A (p.Ser184Thr)	PAX2 (S184T +1 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2048788	NM_000278.5(PAX2):c.879C>A (p.Gly293=)	PAX2	Single nucleotide variant (synonymous variant)	Renal coloboma syndrome +1 more	GLikely benign
Select item 2048058	NM_000278.5(PAX2):c.*52C>G	PAX2 (I429M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	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 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 2043515	NM_000278.5(PAX2):c.975T>A (p.Thr325=)	PAX2	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance
Select item 2042685	NM_000278.5(PAX2):c.922C>T (p.Arg308Cys)	PAX2 (R308C +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 7 +2 more	GUncertain significance
Select item 2040807	NM_000278.5(PAX2):c.812C>G (p.Pro271Arg)	PAX2 (P294R +2 more)	Single nucleotide variant (missense variant)	Renal coloboma syndrome +1 more	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 2040019	NM_000278.5(PAX2):c.225C>T (p.Thr75=)	PAX2	Single nucleotide variant (synonymous variant)	PAX2-related disorder +2 more	GLikely benign
Select item 2038243	NM_000278.5(PAX2):c.1021+192C>T	PAX2 (P354L)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 7 +1 more	GUncertain significance

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