ClinVar for MedGen (Select 576337) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064412	NM_001368894.2(PAX6):c.1211_1225+1del	PAX6	Deletion (splice donor variant +1 more)	Aniridia 1	GUncertain significance
Select item 3062147	NM_001368894.2(PAX6):c.1253del (p.Pro418fs)	ELP4, PAX6 (P203fs +13 more)	Deletion (3 prime UTR variant +2 more)	Aniridia 1	Gnot provided
Select item 2954102	NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)	PAX6 (A38P +2 more)	Single nucleotide variant (missense variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely pathogenic
Select item 2953553	NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)	PAX6 (E195D +8 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2953082	NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)	PAX6 (W121S +9 more)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2952741	NM_001368894.2(PAX6):c.469dup (p.Tyr157fs)	PAX6 (Y157fs +8 more)	Duplication (frameshift variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2952137	NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)	PAX6 (R140G +7 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2951389	NM_001368894.2(PAX6):c.565+17C>T	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2951089	NM_001368894.2(PAX6):c.9_10insTACT (p.Ser4delinsTyrTer)	PAX6 (Q37fs)	Insertion (nonsense +4 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2951088	NM_001368894.2(PAX6):c.102del (p.His34fs)	PAX6 (H115fs +2 more)	Deletion (frameshift variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2950676	NM_001368894.2(PAX6):c.725-8T>A	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2950549	NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)	PAX6 (G76E +5 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2949750	NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)	PAX6 (I123L +2 more)	Single nucleotide variant (missense variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2949032	NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)	PAX6 (Q148K +8 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2948890	NM_001368894.2(PAX6):c.959-3_959-2del	PAX6	Deletion (splice acceptor variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely pathogenic
Select item 2947995	NM_001368894.2(PAX6):c.735A>G (p.Arg245=)	PAX6	Single nucleotide variant (synonymous variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2947947	NM_001368894.2(PAX6):c.42C>T (p.Val14=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2947946	NM_001368894.2(PAX6):c.47del (p.Val16fs)	PAX6 (V17fs +2 more)	Deletion (frameshift variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2947394	NM_001368894.2(PAX6):c.237C>T (p.Ser79=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2946855	NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)	PAX6 (Q178K +8 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2946495	NM_001368894.2(PAX6):c.1226-7C>T	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2945215	NM_001368894.2(PAX6):c.257G>C (p.Gly86Ala)	PAX6 (G72A +5 more)	Single nucleotide variant (missense variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2944355	NM_001368894.2(PAX6):c.255C>T (p.Ile85=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2943693	NM_001368894.2(PAX6):c.724+1G>A	PAX6	Single nucleotide variant (splice donor variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely pathogenic
Select item 2942092	NM_001368894.2(PAX6):c.1038dup (p.Pro347fs)	PAX6 (P280fs +9 more)	Duplication (frameshift variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2942049	NM_001368894.2(PAX6):c.274G>C (p.Val92Leu)	PAX6 (V117L +5 more)	Single nucleotide variant (missense variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2941845	NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)	PAX6 (C112Y +5 more)	Single nucleotide variant (missense variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2941417	NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)	PAX6 (E124K +5 more)	Single nucleotide variant (missense variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2940886	NM_001368894.2(PAX6):c.992dup (p.Thr332fs)	PAX6 (T117fs +9 more)	Duplication (frameshift variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2940883	NM_001368894.2(PAX6):c.1075-3C>A	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2940725	NM_001368894.2(PAX6):c.184-5T>C	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2938939	NM_001368894.2(PAX6):c.10+11C>A	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2937422	NM_001368894.2(PAX6):c.808-19T>C	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2936611	NM_001368894.2(PAX6):c.11-20T>C	PAX6	Single nucleotide variant (5 prime UTR variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2936426	NM_001368894.2(PAX6):c.33C>T (p.Leu11=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2936372	NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)	PAX6 (P330L +9 more)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2934868	NM_001368894.2(PAX6):c.724+20T>C	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2933414	NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)	PAX6 (M180I +8 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2933344	NM_001368894.2(PAX6):c.58C>T (p.Pro20Ser)	PAX6 (P21S +2 more)	Single nucleotide variant (missense variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2931697	NM_001368894.2(PAX6):c.808-18G>A	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2930384	NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)	PAX6 (P345S +8 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2930281	NM_001368894.2(PAX6):c.399C>T (p.Ser133=)	PAX6	Single nucleotide variant (intron variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2930163	NM_001368894.2(PAX6):c.724+7G>C	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2929355	NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)	PAX6 (G198V +8 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2928123	NM_001368894.2(PAX6):c.725-14A>G	PAX6	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2925471	NM_001368894.2(PAX6):c.44_45del (p.Phe15fs)	PAX6 (F15fs +2 more)	Deletion (frameshift variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2925470	NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)	PAX6 (Q167* +8 more)	Single nucleotide variant (nonsense +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2925469	NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)	PAX6 (G141* +8 more)	Single nucleotide variant (nonsense +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2923612	NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2922392	NM_001368894.2(PAX6):c.591G>A (p.Gly197=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Irido-corneo-trabecular dysgenesis +2 more	GLikely benign
Select item 2922273	NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)	PAX6 (S360N +9 more)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2921397	NM_001368894.2(PAX6):c.270G>A (p.Pro90=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Irido-corneo-trabecular dysgenesis +1 more	GLikely benign
Select item 2641700	NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)	PAX6 (D129E +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +2 more	GUncertain significance
Select item 2626933	NM_001368894.2(PAX6):c.1072C>T (p.Gln358Ter)	PAX6 (Q143* +9 more)	Single nucleotide variant (nonsense +1 more)	Aniridia 1	GPathogenic
Select item 2480424	NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)	PAX6 (T373A +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2443076	NM_001368894.2(PAX6):c.1277_1284dup (p.Ser429fs)	ELP4, PAX6 (S214fs +8 more)	Duplication (3 prime UTR variant +4 more)	Aniridia 1	GPathogenic
Select item 2443075	NM_001368894.2(PAX6):c.1018dup (p.Tyr340fs)	PAX6 (Y125fs +9 more)	Duplication (frameshift variant +1 more)	Aniridia 1	GPathogenic
Select item 2442044	NM_001368894.2(PAX6):c.50_60dup (p.Leu21fs)	PAX6 (L102fs +2 more)	Duplication (frameshift variant +3 more)	Aniridia 1	GLikely pathogenic
Select item 2422796	NC_000011.9:g.(?_31804921)_(31816356_?)del	ELP4, PAX6	Deletion	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2422795	NC_000011.9:g.(?_31822233)_(31823148_?)del	PAX6	Deletion	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2422794	NC_000011.9:g.(?_31814966)_(31816356_?)del	PAX6	Deletion	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2422793	NC_000011.9:g.(?_31625295)_(31822424_?)del	ELP4, PAX6	Deletion	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2422792	NC_000011.9:g.(?_31815560)_(31824402_?)del	PAX6	Deletion	Irido-corneo-trabecular dysgenesis +1 more	GPathogenic
Select item 2414487	NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)	PAX6 (S126G +9 more)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2413900	NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)	PAX6 (T120S +8 more)	Single nucleotide variant (missense variant +2 more)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 2197206	NM_001368894.2(PAX6):c.399+18A>G	PAX6	Single nucleotide variant (5 prime UTR variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2193971	NM_001368894.2(PAX6):c.741T>C (p.His247=)	PAX6	Single nucleotide variant (synonymous variant)	Aniridia 1 +1 more	GLikely benign
Select item 2193207	NM_001368894.2(PAX6):c.225C>T (p.Tyr75=)	PAX6	Single nucleotide variant (synonymous variant +3 more)	Aniridia 1 +1 more	GLikely benign
Select item 2190352	NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)	PAX6 (V111I +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2189555	NM_001368894.2(PAX6):c.960T>C (p.Val320=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2189197	NM_001368894.2(PAX6):c.918C>T (p.Ser306=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2185907	NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)	PAX6 (R38P +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GLikely pathogenic
Select item 2184293	NM_001368894.2(PAX6):c.534G>A (p.Pro178=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2179829	NM_001368894.2(PAX6):c.400-18T>G	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 2167926	NM_001368894.2(PAX6):c.141+19C>T	PAX6 (P54S)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2153006	NM_001368894.2(PAX6):c.1017C>T (p.Thr339=)	PAX6	Single nucleotide variant (synonymous variant +1 more)	Aniridia 1 +1 more	GLikely benign
Select item 2152105	NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)	PAX6 (R38Q +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GPathogenic/Likely pathogenic
Select item 2141898	NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)	PAX6 (R231W +8 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2141893	NM_001368894.2(PAX6):c.621C>T (p.Asn207=)	PAX6	Single nucleotide variant (synonymous variant +2 more)	Aniridia 1 +1 more	GLikely benign
Select item 2140339	NM_001368894.2(PAX6):c.808-15C>T	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GLikely benign
Select item 2137047	NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)	PAX6 (Q2* +1 more)	Single nucleotide variant (nonsense +4 more)	Aniridia 1 +1 more	GPathogenic
Select item 2137046	NM_001368894.2(PAX6):c.10+1G>A	PAX6	Single nucleotide variant (splice donor variant +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 2137045	NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)	PAX6 (G99W +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GLikely pathogenic
Select item 2137044	NM_001368894.2(PAX6):c.114_117dup (p.Cys40fs)	PAX6 (C121fs +2 more)	Duplication (frameshift variant +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 2137042	NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)	PAX6 (V67L +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GLikely pathogenic
Select item 2137041	NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser)	PAX6 (G87S +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 2137040	NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter)	PAX6 (E132* +5 more)	Single nucleotide variant (nonsense +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 2137034	NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs)	PAX6 (T253fs +9 more)	Microsatellite (frameshift variant +1 more)	Aniridia 1 +1 more	GPathogenic
Select item 2134911	NM_001368894.2(PAX6):c.10+5G>T	PAX6	Single nucleotide variant (intron variant)	Aniridia 1 +1 more	GUncertain significance
Select item 2129723	NM_001368894.2(PAX6):c.518G>A (p.Arg173His)	PAX6 (R106H +8 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2126627	NM_001368894.2(PAX6):c.787_807+102del	PAX6	Deletion (splice donor variant)	Aniridia 1 +1 more	GPathogenic
Select item 2120967	NM_001368894.2(PAX6):c.478C>G (p.Leu160Val)	PAX6 (L171V +8 more)	Single nucleotide variant (missense variant +1 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2119553	NM_001368894.2(PAX6):c.-120_-118dup	PAX6	Duplication (5 prime UTR variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2118995	NM_001368894.2(PAX6):c.566-1G>T	PAX6	Single nucleotide variant (splice acceptor variant)	Aniridia 1 +1 more	GPathogenic
Select item 2118874	NM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter)	PAX6 (Y301* +8 more)	Duplication (nonsense +2 more)	Aniridia 1 +1 more	GPathogenic
Select item 2116185	NM_001368894.2(PAX6):c.807G>A (p.Gln269=)	PAX6	Single nucleotide variant (synonymous variant)	Aniridia 1 +1 more	GLikely pathogenic
Select item 2113548	NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)	PAX6 (V129G +5 more)	Single nucleotide variant (missense variant +2 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2111741	NM_001368894.2(PAX6):c.114del (p.Pro39fs)	PAX6 (P120fs +2 more)	Deletion (frameshift variant +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 2108729	NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala)	PAX6 (T94A +5 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GUncertain significance
Select item 2106337	NM_001368894.2(PAX6):c.1074+6T>C	PAX6	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance

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