ClinVar for MedGen (Select 811487) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236118	NM_000325.6(PITX2):c.391C>G (p.Leu131Val)	PITX2 (L124V +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GUncertain significance
Select item 2954309	NM_000325.6(PITX2):c.425A>G (p.Asn142Ser)	PITX2 (N142S +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GUncertain significance
Select item 2950646	NM_000325.6(PITX2):c.250G>T (p.Glu84Ter)	PITX2 (E84* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 2942566	NM_000325.6(PITX2):c.376G>C (p.Ala126Pro)	PITX2 (A119P +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 2939839	NM_000325.6(PITX2):c.634C>T (p.Leu212=)	PITX2	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 4 +1 more	GLikely benign
Select item 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 2203569	NM_000325.6(PITX2):c.350C>G (p.Pro117Arg)	PITX2 (P117R +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 2193679	NM_000325.6(PITX2):c.927G>A (p.Pro309=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 2155411	NM_000325.6(PITX2):c.489C>T (p.Phe163=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 2154825	NM_000325.6(PITX2):c.242T>G (p.Val81Gly)	PITX2 (V28G +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GUncertain significance
Select item 2057598	NM_000325.6(PITX2):c.697A>G (p.Met233Val)	PITX2 (M226V +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GUncertain significance
Select item 2048618	NM_000325.6(PITX2):c.588A>C (p.Leu196=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 2019449	NM_000325.6(PITX2):c.470_476dup (p.Cys159Ter)	PITX2 (C159* +2 more)	Duplication (nonsense)	Anterior segment dysgenesis 4 +1 more	GPathogenic
Select item 2007681	NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)	PITX2 (P120S +2 more)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 4 +1 more	GUncertain significance
Select item 1998487	NM_000325.6(PITX2):c.287_288delinsCA (p.Arg96Pro)	PITX2 (R89P +2 more)	Indel (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GUncertain significance
Select item 1972588	NM_000325.6(PITX2):c.633C>T (p.Pro211=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 1693156	NM_000325.6(PITX2):c.412-1G>A	PITX2	Single nucleotide variant (splice acceptor variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693146	NM_000325.6(PITX2):c.384G>A (p.Trp128Ter)	PITX2 (W121* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693136	NM_000325.6(PITX2):c.302_303del (p.Ser101fs)	PITX2 (S101fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693135	NM_000325.6(PITX2):c.428G>C (p.Arg143Pro)	PITX2 (R136P +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693134	NM_000325.6(PITX2):c.418T>C (p.Phe140Leu)	PITX2 (F133L +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1693133	NM_000325.6(PITX2):c.417G>T (p.Trp139Cys)	PITX2 (W132C +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693132	NM_000325.6(PITX2):c.406G>T (p.Val136Phe)	PITX2 (V129F +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1693131	NM_000325.6(PITX2):c.296T>C (p.Phe99Ser)	PITX2 (F46S +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1693130	NM_000325.6(PITX2):c.293dup (p.His98fs)	PITX2 (H45fs +2 more)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693129	NM_000325.6(PITX2):c.867_889del (p.Ser290fs)	PITX2 (S237fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693128	NM_000325.6(PITX2):c.791_792dup (p.Pro265fs)	PITX2 (P212fs +2 more)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693127	NM_000325.6(PITX2):c.790del (p.Val264fs)	PITX2 (V211fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693126	NM_000325.6(PITX2):c.663del (p.Asn222fs)	PITX2 (N169fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693125	NM_000325.6(PITX2):c.557G>A (p.Trp186Ter)	PITX2 (W133* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693124	NM_000325.6(PITX2):c.525del (p.Asp175fs)	PITX2 (D122fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693123	NM_000325.6(PITX2):c.515del (p.Gln172fs)	PITX2 (Q119fs +2 more)	Deletion (frameshift variant)	Anterior segment dysgenesis 4 +1 more	GPathogenic
Select item 1693122	NM_000325.6(PITX2):c.503_506del (p.Asn168fs)	PITX2 (N115fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693121	NM_000325.6(PITX2):c.220C>T (p.Gln74Ter)	PITX2 (Q21* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1660721	NM_000325.6(PITX2):c.816G>A (p.Ala272=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 1659615	NM_000325.6(PITX2):c.592A>T (p.Thr198Ser)	PITX2 (T145S +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 1511354	NM_000325.6(PITX2):c.376G>A (p.Ala126Thr)	PITX2 (A73T +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GUncertain significance
Select item 1458040	NM_000325.6(PITX2):c.448_449del (p.Arg150fs)	PITX2 (R97fs +2 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1456258	NC_000004.11:g.(?_111539281)_(111554154_?)del	PITX2	Deletion	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 1455159	NM_000325.6(PITX2):c.700_716dup (p.Thr239_Gly240insCysProGlnGlnTer)	PITX2	Duplication (nonsense +1 more)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 1449912	NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter)	PITX2 (Y167* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1398374	NM_000325.6(PITX2):c.316G>T (p.Glu106Ter)	PITX2 (E53* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 1339732	NM_000325.6(PITX2):c.208A>T (p.Lys70Ter)	PITX2 (K17* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1184588	NM_000325.6(PITX2):c.347_378del (p.Tyr116fs)	PITX2 (Y109fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1071052	NM_000325.6(PITX2):c.286C>T (p.Arg96Trp)	PITX2 (R43W +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +2 more	GPathogenic/Likely pathogenic
Select item 1068355	NM_000325.6(PITX2):c.430C>T (p.Arg144Trp)	PITX2 (R137W +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely pathogenic
Select item 1066859	NC_000004.11:g.(?_111539261)_(111543636_?)del	PITX2	Deletion	Axenfeld-Rieger syndrome type 1 +1 more	GLikely pathogenic
Select item 946640	NM_000325.6(PITX2):c.383G>A (p.Trp128Ter)	PITX2 (W128* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 937285	NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer)	PITX2	Indel (nonsense)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 903410	NM_153427.2(PITX2):c.-1068C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +7 more	GBenign
Select item 902850	NM_000325.6(PITX2):c.*440C>T	PITX2	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 902615	NM_153427.2(PITX2):c.-1137G>A	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 902558	NM_153427.2(PITX2):c.-1024G>A	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GBenign/Likely benign
Select item 902484	NM_153427.2(PITX2):c.-793C>A	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GConflicting classifications of pathogenicity
Select item 902412	NM_153427.2(PITX2):c.-485C>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GBenign
Select item 902339	NM_153427.2(PITX2):c.-392G>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +7 more	GBenign/Likely benign
Select item 902274	NM_153427.3(PITX2):c.-211G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	PITX2-Related Eye Abnormalities +6 more	GConflicting classifications of pathogenicity
Select item 901637	NM_153427.2(PITX2):c.-1532C>A	PITX2	Single nucleotide variant (5 prime UTR variant)	PITX2-Related Eye Abnormalities +6 more	GConflicting classifications of pathogenicity
Select item 901582	NM_153427.2(PITX2):c.-1411C>T	PITX2	Single nucleotide variant (5 prime UTR variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 901581	NM_001204398.1(PITX2):c.-11+12T>C	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GConflicting classifications of pathogenicity
Select item 901514	NM_000325.6(PITX2):c.*107A>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 901347	NM_000325.6(PITX2):c.*687A>G	PITX2	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 901346	NM_000325.6(PITX2):c.*696A>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 901089	NM_153427.2(PITX2):c.-1491G>A	PITX2	Single nucleotide variant (5 prime UTR variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 901030	NM_153427.2(PITX2):c.-1335C>A	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GBenign/Likely benign
Select item 900960	NM_153427.2(PITX2):c.-1111C>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GBenign/Likely benign
Select item 900892	NM_153427.2(PITX2):c.-967C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GConflicting classifications of pathogenicity
Select item 900813	NM_153427.2(PITX2):c.-670C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900734	NM_153427.2(PITX2):c.-483C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900658	NM_153427.2(PITX2):c.-362C>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GBenign/Likely benign
Select item 900657	NM_153427.2(PITX2):c.-300A>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900591	NM_153427.3(PITX2):c.-79G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	PITX2-Related Eye Abnormalities +6 more	GConflicting classifications of pathogenicity
Select item 900537	NM_000325.6(PITX2):c.282G>T (p.Arg94=)	PITX2	Single nucleotide variant (synonymous variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900415	NM_000325.6(PITX2):c.695G>A (p.Ser232Asn)	PITX2 (S179N +2 more)	Single nucleotide variant (missense variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900360	NM_000325.6(PITX2):c.*173G>A	PITX2	Single nucleotide variant (3 prime UTR variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899914	NM_153427.2(PITX2):c.-1422C>A	PITX2	Single nucleotide variant (5 prime UTR variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899913	NM_153427.2(PITX2):c.-1421G>C	PITX2	Single nucleotide variant (5 prime UTR variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899851	NM_153427.2(PITX2):c.-1311G>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GBenign/Likely benign
Select item 899850	NM_153427.2(PITX2):c.-1209C>T	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899797	NM_153427.2(PITX2):c.-1092G>A	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899796	NM_153427.2(PITX2):c.-1078C>A	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899731	NM_153427.2(PITX2):c.-966A>G	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899730	NM_153427.2(PITX2):c.-920C>T	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899666	NM_153427.2(PITX2):c.-515C>T	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899665	NM_153427.2(PITX2):c.-501T>G	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899597	NM_153427.2(PITX2):c.-436G>C	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899596	NM_153427.2(PITX2):c.-429C>G	PITX2	Single nucleotide variant (intron variant)	Cataract +7 more	GConflicting classifications of pathogenicity
Select item 899520	NM_153427.2(PITX2):c.-270A>G	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899519	NM_153427.2(PITX2):c.-245G>A	PITX2	Single nucleotide variant (intron variant)	Cataract +6 more	GUncertain significance
Select item 899458	NM_153427.3(PITX2):c.-53G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract +6 more	GUncertain significance
Select item 899457	NM_153427.3(PITX2):c.-40G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract +6 more	GUncertain significance
Select item 899414	NM_000325.6(PITX2):c.412-7C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 849729	NM_000325.6(PITX2):c.941G>A (p.Ser314Asn)	PITX2 (S314N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 844916	NM_000325.6(PITX2):c.373del (p.Ile125fs)	PITX2 (I118fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 837823	NM_000325.6(PITX2):c.264del (p.Lys89fs)	PITX2 (K36fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 832808	NC_000004.12:g.(?_110618105)_(110633018_?)del	PITX2	Deletion	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 773996	NM_000325.6(PITX2):c.206-8G>C	PITX2	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 4 +1 more	GLikely benign
Select item 695068	NM_000325.6(PITX2):c.411+1G>A	PITX2	Single nucleotide variant (splice donor variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 662470	NM_000325.6(PITX2):c.411+2T>G	PITX2	Single nucleotide variant (splice donor variant)	Anterior segment dysgenesis 4 +1 more	GPathogenic
Select item 648326	NM_000325.6(PITX2):c.916G>A (p.Val306Met)	PITX2 (V253M +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GUncertain significance

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