ClinVar for Gene (Select 5308) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246704	NC_000004.11:g.(?_110481494)_(111554154_?)dup	CASP6, CFI +9 more	Duplication	not provided	GUncertain significance
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 3213317	NM_000325.6(PITX2):c.257C>T (p.Pro86Leu)	PITX2 (P79L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213316	NM_000325.6(PITX2):c.728G>A (p.Gly243Asp)	PITX2 (G190D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213313	NM_000325.6(PITX2):c.656C>G (p.Ser219Cys)	PITX2 (S166C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213312	NM_000325.6(PITX2):c.631C>A (p.Pro211Thr)	PITX2 (P211T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213311	NM_000325.6(PITX2):c.551A>G (p.Asn184Ser)	PITX2 (N177S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213310	NM_000325.6(PITX2):c.389A>G (p.Asn130Ser)	PITX2 (N130S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3055043	NM_153427.3(PITX2):c.24G>A (p.Leu8=)	PITX2	Single nucleotide variant (synonymous variant)	PITX2-related disorder	GLikely benign
Select item 3050047	NM_153427.3(PITX2):c.24G>T (p.Leu8=)	PITX2	Single nucleotide variant (synonymous variant)	PITX2-related disorder	GLikely benign
Select item 3046062	NM_000325.6(PITX2):c.429T>A (p.Arg143=)	PITX2	Single nucleotide variant (synonymous variant)	PITX2-related disorder	GLikely benign
Select item 3038286	NM_000325.6(PITX2):c.929C>A (p.Ala310Asp)	PITX2 (A257D +2 more)	Single nucleotide variant (missense variant)	PITX2-related disorder	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
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 2655026	NM_000325.6(PITX2):c.180C>G (p.Ser60=)	PITX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655025	NM_000325.6(PITX2):c.411+225C>T	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637269	NM_000325.6(PITX2):c.308A>G (p.Gln103Arg)	PITX2 (Q103R +2 more)	Single nucleotide variant (missense variant)	PITX2-related disorder	GLikely pathogenic
Select item 2628512	NM_000325.6(PITX2):c.124G>A (p.Gly42Ser)	PITX2 (G42S)	Single nucleotide variant (missense variant +1 more)	PITX2-related disorder	GUncertain significance
Select item 2581089	NM_000325.6(PITX2):c.522C>A (p.Tyr174Ter)	PITX2 (Y121* +2 more)	Single nucleotide variant (nonsense)	Pituitary stalk interruption syndrome	GUncertain significance
Select item 2578057	NM_000325.6(PITX2):c.559del (p.Ala187fs)	PITX2 (A134fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2571212	NM_153426.2(PITX2):c.-915_-914dup	PITX2	Duplication (intron variant)	not provided	GBenign
Select item 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 2431138	NM_000325.6(PITX2):c.412-283C>A	PITX2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2328581	NM_000325.6(PITX2):c.958G>A (p.Val320Met)	PITX2 (V320M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303857	NM_000325.6(PITX2):c.241G>A (p.Val81Met)	PITX2 (V28M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293748	NM_000325.6(PITX2):c.651G>C (p.Met217Ile)	PITX2 (M210I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265664	NM_000325.6(PITX2):c.681G>A (p.Met227Ile)	PITX2 (M220I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Axenfeld-Rieger syndrome type 1 +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 1710340	NM_000325.6(PITX2):c.839del (p.Tyr280fs)	PITX2 (Y227fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	GPathogenic
Select item 1707318	NM_001204398.1(PITX2):c.-11+173G>C	PITX2	Single nucleotide variant (intron variant)	not provided	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)	Axenfeld-Rieger syndrome type 1 +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 1676338	NC_000004.12:g.110642266G>A	PITX2	Single nucleotide variant	not provided	GLikely benign
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 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
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 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	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 1296541	NM_000325.6(PITX2):c.411+196C>T	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296530	NM_000325.6(PITX2):c.-388_-387del	PITX2	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1288511	NM_000325.6(PITX2):c.206-62C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285802	NM_153426.3(PITX2):c.-10-30T>C	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282123	NM_001204398.1(PITX2):c.-11+78G>T	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274006	NM_000325.6(PITX2):c.205+71A>G	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271698	NM_153426.3(PITX2):c.-11+77C>G	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271627	NM_153426.3(PITX2):c.185-1779G>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262456	NM_153426.3(PITX2):c.47-61C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262121	NM_000325.6(PITX2):c.-387del	PITX2	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1259982	NM_153426.3(PITX2):c.-10-105A>C	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255120	NM_153426.3(PITX2):c.184+166T>C	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247429	NM_153426.3(PITX2):c.185-2070A>T	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243059	NM_153426.3(PITX2):c.47-105C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238490	NM_000325.6(PITX2):c.411+166C>T	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233854	NM_000325.6(PITX2):c.206-102G>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229303	NM_000325.6(PITX2):c.205+89G>C	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222383	NM_153426.3(PITX2):c.47-62C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218185	NM_000325.6(PITX2):c.412-102G>A	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209417	NM_000325.6(PITX2):c.-328G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1200825	NM_000325.6(PITX2):c.412-271T>C	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197022	NM_153426.3(PITX2):c.-10-118A>T	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190280	NM_000325.6(PITX2):c.206-173C>A	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1183846	NM_000325.6(PITX2):c.-594C>G	PITX2, LOC129992966	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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

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