PITX2[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 580331.	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 GRCh37: Chr4:97014044-137331362 GRCh38: Chr4:96092893-136410207	ABHD18, ADAD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFG2A, AIMP1, ALPK1, ANK2, ANKRD50, ANXA5, AP1AR, ARHGEF38, ARHGEF38-IT1, ARSJ, BANK1, BBS12, BBS7, BDH2, BLTP1, C4orf17, C4orf3, C4orf33, C4orf54, CAMK2D, CASP6, CCNA2, CENPE, CFI, CISD2, COL25A1, COL25A1-DT, CXXC4, CXXC4-AS1, CYP2U1, CYP2U1-AS1, DAPP1, DDIT4L, DDIT4L-AS1, DKK2, DNAJB14, EGF, EIF4E, ELOVL6, EMCN, ENPEP, ETNPPL, EXOSC9, FABP2, FAM241A, FAT4, FGF2, FLJ20021, GAR1, GIMD1, GSTCD, GSTCD-AS1, H2AZ1, H2AZ1-DT, HADH, HSPA4L, IL2, IL21, IL21-AS1, INTS12, INTU, JADE1, LAMTOR3, LARP1B, LARP7, LEF1, LEF1-AS1, LINC00613, LINC01061, LINC01091, LINC01216, LINC01217, LINC01218, LINC01256, LINC01365, LINC01378, LINC02173, LINC02262, LINC02263, LINC02264, LINC02267, LINC02377, LINC02379, LINC02428, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02502, LINC02516, LINC02615, LOC100507053, LOC101929577, LOC101929621, LOC101929762, LOC102723704, LOC105377621, LOC107986192, LOC109113863, LOC110120634, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC110120975, LOC110121089, LOC110121129, LOC110121138, LOC110121150, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111413048, LOC111591508, LOC112935970, LOC112935971, LOC112935972, LOC112935973, LOC112935974, LOC112935975, LOC112935976, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC116158504, LOC116158505, LOC116158506, LOC116158507, LOC121053189, LOC121053190, LOC121053191, LOC121053192, LOC121056741, LOC121056742, LOC121056743, LOC121725179, LOC121725180, LOC121725181, LOC121725182, LOC121725183, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC123477791, LOC123477792, LOC123477793, LOC123477794, LOC123477795, LOC123477796, LOC123477797, LOC123477798, LOC123477799, LOC123477800, LOC123477801, LOC123477802, LOC123477803, LOC123477804, LOC123477805, LOC123477806, LOC123477807, LOC123477808, LOC123477809, LOC123477810, LOC123480920, LOC123480921, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC126807125, LOC126807126, LOC126807127, LOC126807128, LOC126807129, LOC126807130, LOC126807131, LOC126807132, LOC126807133, LOC126807134, LOC126807135, LOC126807136, LOC126807137, LOC126807138, LOC126807139, LOC126807140, LOC126807141, LOC126807142, LOC126807143, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LRIT3, MAD2L1, MAD2L1-DT, MANBA, MCUB, METAP1, METTL14, METTL14-DT, MFSD8, MIR1243, MIR1255A, MIR1973, MIR2054, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, MIR3684, MIR576, MIR577, MIR8066, MIR8082, MTTP, MYOZ2, NDNF, NDNF-AS1, NDST3, NDST4, NEUROG2, NEUROG2-AS1, NFKB1, NPNT, NUDT6, OSTC, PABPC4L, PANCR, PAPSS1, PCDH10, PCDH10-DT, PDE5A, PGRMC2, PITX2, PLA2G12A, PLK4, PP12613, PPA2, PPP3CA, PRDM5, PRSS12, QRFPR, RAP1GDS1, RPL34, RPL34-DT, RRH, SCLT1, SEC24B, SEC24B-AS1, SEC24D, SGMS2, SLC25A31, SLC39A8, SLC9B1, SLC9B2, SMIM43, SNHG27, SNHG8, SNORA101A, SNORA24, SPRY1, STPG2, STPG2-AS1, SYNPO2, TACR3, TBCK, TET2, TET2-AS1, TIFA, TNIP3, TRAM1L1, TRC-GCA2-1, TRMT10A, TRPC3, TSPAN5, TSPAN5-DT, UBE2D3, UBE2D3-AS1, UGT8, USP53, ZGRF1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 9013462.	NM_000325.6(PITX2):c.*696A>C GRCh37: Chr4:111538585 GRCh38: Chr4:110617429	PITX2		Ring dermoid of cornea, Irido-corneo-trabecular dysgenesis, Cataract, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities, Hypoplasia of the iris	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9013473.	NM_000325.6(PITX2):c.*687A>G GRCh37: Chr4:111538594 GRCh38: Chr4:110617438	PITX2		Ring dermoid of cornea, Irido-corneo-trabecular dysgenesis, Cataract, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities, Hypoplasia of the iris	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3472884.	NM_000325.6(PITX2):c.*611A>G GRCh37: Chr4:111538670 GRCh38: Chr4:110617514	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3472895.	NM_000325.6(PITX2):c.*572T>C GRCh37: Chr4:111538709 GRCh38: Chr4:110617553	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3472906.	NM_000325.6(PITX2):c.*522T>C GRCh37: Chr4:111538759 GRCh38: Chr4:110617603	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3472917.	NM_000325.6(PITX2):c.*471G>A GRCh37: Chr4:111538810 GRCh38: Chr4:110617654	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 1832538.	NM_000325.6(PITX2):c.*454C>T GRCh37: Chr4:111538827 GRCh38: Chr4:110617671	PITX2		PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, not provided, Cataract, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Anterior segment dysgenesis 1, Hypoplasia of the iris	Benign (May 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9028509.	NM_000325.6(PITX2):c.*440C>T GRCh37: Chr4:111538841 GRCh38: Chr4:110617685	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 4, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 34729210.	NM_000325.6(PITX2):c.*373GTT[1] GRCh37: Chr4:111538903-111538905 GRCh38: Chr4:110617747-110617749	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Axenfeld-Rieger syndrome, PITX2-Related Eye Abnormalities, Ring dermoid of cornea, Anterior segment dysgenesis 4, Anterior segment dysgenesis 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34729311.	NM_000325.6(PITX2):c.*370G>C GRCh37: Chr4:111538911 GRCh38: Chr4:110617755	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34729412.	NM_000325.6(PITX2):c.*340A>G GRCh37: Chr4:111538941 GRCh38: Chr4:110617785	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Hypoplasia of the iris, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 34729513.	NM_000325.6(PITX2):c.*264A>C GRCh37: Chr4:111539017 GRCh38: Chr4:110617861	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Hypoplasia of the iris, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34729614.	NM_000325.6(PITX2):c.*176A>T GRCh37: Chr4:111539105 GRCh38: Chr4:110617949	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Hypoplasia of the iris, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90036015.	NM_000325.6(PITX2):c.*173G>A GRCh37: Chr4:111539108 GRCh38: Chr4:110617952	PITX2		Ring dermoid of cornea, Irido-corneo-trabecular dysgenesis, Cataract, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities, Hypoplasia of the iris	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34729716.	NM_000325.6(PITX2):c.*119T>A GRCh37: Chr4:111539162 GRCh38: Chr4:110618006	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90151417.	NM_000325.6(PITX2):c.*107A>C GRCh37: Chr4:111539174 GRCh38: Chr4:110618018	PITX2		Ring dermoid of cornea, Irido-corneo-trabecular dysgenesis, Cataract, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities, Hypoplasia of the iris	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 37544318.	NC_000004.12:g.(?_110618049)_(110622472_?)del GRCh37: Chr4:111539205-111543628 GRCh38: Chr4:110618049-110622472	PITX2		Axenfeld-Rieger syndrome type 1	Pathogenic (Jul 31, 2015)	no assertion criteria provided
Select item 232858119.	NM_000325.6(PITX2):c.958G>A (p.Val320Met) GRCh37: Chr4:111539298 GRCh38: Chr4:110618142	PITX2	V320M, V313M, V267M	Inborn genetic diseases	Uncertain significance (Nov 21, 2022)	criteria provided, single submitter
Select item 84972920.	NM_000325.6(PITX2):c.941G>A (p.Ser314Asn) GRCh37: Chr4:111539315 GRCh38: Chr4:110618159	PITX2	S314N, S307N, S261N	Inborn genetic diseases, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 219367921.	NM_000325.6(PITX2):c.927G>A (p.Pro309_Ala310=) GRCh37: Chr4:111539329 GRCh38: Chr4:110618173	PITX2		Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 47400922.	NC_000004.12:g.(?_110618181)_(110621345_?)del GRCh37: Chr4:111539337-111542501 GRCh38: Chr4:110618181-110621345	PITX2		Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Likely pathogenic (Mar 25, 2017)	criteria provided, single submitter
Select item 64832623.	NM_000325.6(PITX2):c.916G>A (p.Val306Met) GRCh37: Chr4:111539340 GRCh38: Chr4:110618184	PITX2	V253M, V299M, V306M	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 59190924.	NM_000325.6(PITX2):c.902T>G (p.Phe301Cys) GRCh37: Chr4:111539354 GRCh38: Chr4:110618198	PITX2	F248C, F294C, F301C	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 169312925.	NM_000325.6(PITX2):c.867_889del (p.Ser290fs) GRCh37: Chr4:111539367-111539389 GRCh38: Chr4:110618211-110618233	PITX2	S237fs, S283fs, S290fs	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 34729826.	NM_000325.6(PITX2):c.862C>T (p.Leu288=) GRCh37: Chr4:111539394 GRCh38: Chr4:110618238	PITX2		Irido-corneo-trabecular dysgenesis, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Cataract, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Conflicting interpretations of pathogenicity (Aug 1, 2022)	criteria provided, conflicting interpretations
Select item 171034027.	NM_000325.6(PITX2):c.839del (p.Tyr280fs) GRCh37: Chr4:111539417 GRCh38: Chr4:110618261	PITX2	Y227fs, Y273fs, Y280fs	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	Pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 16747228.	NM_000325.6(PITX2):c.819G>A (p.Pro273=) GRCh37: Chr4:111539437 GRCh38: Chr4:110618281	PITX2		Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, not specified, Cataract, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Anterior segment dysgenesis 1, Hypoplasia of the iris	Benign/Likely benign (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166072129.	NM_000325.6(PITX2):c.816G>A (p.Ala272=) GRCh37: Chr4:111539440 GRCh38: Chr4:110618284	PITX2		Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Likely benign (Sep 23, 2021)	criteria provided, single submitter
Select item 87111230.	NM_000325.6(PITX2):c.813_814insT (p.Ala272fs) GRCh37: Chr4:111539442-111539443 GRCh38: Chr4:110618286-110618287	PITX2	A265fs, A272fs, A219fs	not provided	Pathogenic (Oct 1, 2019)	criteria provided, single submitter
Select item 9652131.	NM_000325.6(PITX2):c.812A>T (p.Tyr271Phe) GRCh37: Chr4:111539444 GRCh38: Chr4:110618288	PITX2	Y218F, Y264F, Y271F	not provided	Uncertain significance (Aug 20, 2013)	criteria provided, single submitter
Select item 37544232.	NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) GRCh37: Chr4:111539449 GRCh38: Chr4:110618293	PITX2	C216, C262, C269*	Axenfeld-Rieger syndrome type 1	Pathogenic	no assertion criteria provided
Select item 77269133.	NM_000325.6(PITX2):c.795G>T (p.Pro265=) GRCh37: Chr4:111539461 GRCh38: Chr4:110618305	PITX2		not provided	Likely benign (May 11, 2018)	criteria provided, single submitter
Select item 169312834.	NM_000325.6(PITX2):c.791_792dup (p.Pro265fs) GRCh37: Chr4:111539463-111539464 GRCh38: Chr4:110618307-110618308	PITX2	P212fs, P258fs, P265fs	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 169312735.	NM_000325.6(PITX2):c.790del (p.Val264fs) GRCh37: Chr4:111539466 GRCh38: Chr4:110618310	PITX2	V211fs, V257fs, V264fs	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 37544136.	NM_000325.6(PITX2):c.784_785del (p.Ser262fs) GRCh37: Chr4:111539471-111539472 GRCh38: Chr4:110618315-110618316	PITX2	S255fs, S262fs, S209fs	Axenfeld-Rieger syndrome type 1	Pathogenic (Nov 24, 2009)	no assertion criteria provided
Select item 37544037.	NM_000325.6(PITX2):c.714_735del (p.Thr239fs) GRCh37: Chr4:111539521-111539542 GRCh38: Chr4:110618365-110618386	PITX2	T232fs, T239fs, T186fs	Axenfeld-Rieger syndrome type 1	Pathogenic (May 11, 2015)	no assertion criteria provided
Select item 145515938.	NM_000325.6(PITX2):c.700_716dup (p.Thr239_Gly240insCysProGlnGlnTer) GRCh37: Chr4:111539539-111539540 GRCh38: Chr4:110618383-110618384	PITX2		Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Pathogenic (Nov 4, 2021)	criteria provided, single submitter
Select item 205759839.	NM_000325.6(PITX2):c.697A>G (p.Met233Val) GRCh37: Chr4:111539559 GRCh38: Chr4:110618403	PITX2	M226V, M180V, M233V	Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 90041540.	NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) GRCh37: Chr4:111539561 GRCh38: Chr4:110618405	PITX2	S179N, S232N, S225N	Ring dermoid of cornea, Irido-corneo-trabecular dysgenesis, Cataract, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, PITX2-Related Eye Abnormalities, Hypoplasia of the iris	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 226566441.	NM_000325.6(PITX2):c.681G>A (p.Met227Ile) GRCh37: Chr4:111539575 GRCh38: Chr4:110618419	PITX2	M220I, M227I, M174I	Inborn genetic diseases	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 169312642.	NM_000325.6(PITX2):c.663del (p.Asn222fs) GRCh37: Chr4:111539593 GRCh38: Chr4:110618437	PITX2	N169fs, N215fs, N222fs	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 229374843.	NM_000325.6(PITX2):c.651G>C (p.Met217Ile) GRCh37: Chr4:111539605 GRCh38: Chr4:110618449	PITX2	M210I, M164I, M217I	Inborn genetic diseases	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 28338344.	NM_000325.6(PITX2):c.639A>T (p.Ser213=) GRCh37: Chr4:111539617 GRCh38: Chr4:110618461	PITX2		Cataract, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Anterior segment dysgenesis 1, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 197258845.	NM_000325.6(PITX2):c.633C>T (p.Pro211_Leu212=) GRCh37: Chr4:111539623 GRCh38: Chr4:110618467	PITX2		Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 55959346.	NM_000325.6(PITX2):c.619A>G (p.Met207Val) GRCh37: Chr4:111539637 GRCh38: Chr4:110618481	PITX2	M154V, M207V, M200V	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, Cataract, Irido-corneo-trabecular dysgenesis, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Ring dermoid of cornea	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 26271847.	NM_000325.6(PITX2):c.618T>G (p.Ser206=) GRCh37: Chr4:111539638 GRCh38: Chr4:110618482	PITX2		Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Hypoplasia of the iris, Ring dermoid of cornea, Anterior segment dysgenesis 1, PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, not specified, Axenfeld-Rieger syndrome type 1, not provided, Cataract ...see more	Benign/Likely benign (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165961548.	NM_000325.6(PITX2):c.592A>T (p.Thr198Ser) GRCh37: Chr4:111539664 GRCh38: Chr4:110618508	PITX2	T145S, T191S, T198S	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 204861849.	NM_000325.6(PITX2):c.588A>C (p.Leu196_Ser197=) GRCh37: Chr4:111539668 GRCh38: Chr4:110618512	PITX2		Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 16156950.	NM_000325.6(PITX2):c.580G>A (p.Ala194Thr) GRCh37: Chr4:111539676 GRCh38: Chr4:110618520	PITX2	A141T, A187T, A194T	Malignant tumor of prostate	Uncertain significance	no assertion criteria provided
Select item 19788451.	NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) GRCh37: Chr4:111539694 GRCh38: Chr4:110618538	PITX2	A135T, A181T, A188T	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, not specified, not provided, Cataract, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Ring dermoid of cornea, Hypoplasia of the iris ...see more	Benign/Likely benign (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 808852.	NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) GRCh37: Chr4:111539698 GRCh38: Chr4:110618542	PITX2	W133, W179, W186*	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 169312553.	NM_000325.6(PITX2):c.557G>A (p.Trp186Ter) GRCh37: Chr4:111539699 GRCh38: Chr4:110618543	PITX2	W133, W179, W186*	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 63945654.	NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) GRCh37: Chr4:111539722 GRCh38: Chr4:110618566	PITX2	Y171, Y125, Y178*	Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 169312455.	NM_000325.6(PITX2):c.525del (p.Asp175fs) GRCh37: Chr4:111539731 GRCh38: Chr4:110618575	PITX2	D122fs, D168fs, D175fs	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 93728556.	NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer) GRCh37: Chr4:111539733-111539734 GRCh38: Chr4:110618577-110618578	PITX2		Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 144991257.	NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) GRCh37: Chr4:111539734 GRCh38: Chr4:110618578	PITX2	Y167, Y174, Y121*	Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1	Pathogenic/Likely pathogenic (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 200768158.	NM_000325.6(PITX2):c.517C>T (p.Pro173Ser) GRCh37: Chr4:111539739 GRCh38: Chr4:110618583	PITX2	P120S, P173S, P166S	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 169312359.	NM_000325.6(PITX2):c.515del (p.Gln172fs) GRCh37: Chr4:111539741 GRCh38: Chr4:110618585	PITX2	Q119fs, Q165fs, Q172fs	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 169312260.	NM_000325.6(PITX2):c.503_506del (p.Asn168fs) GRCh37: Chr4:111539750-111539753 GRCh38: Chr4:110618594-110618597	PITX2	N115fs, N161fs, N168fs	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 93228961.	NM_000325.6(PITX2):c.500dup (p.Asn168fs) GRCh37: Chr4:111539755-111539756 GRCh38: Chr4:110618599-110618600	PITX2	N115fs, N168fs, N161fs	Anterior segment dysgenesis	Pathogenic (Mar 31, 2020)	no assertion criteria provided
Select item 72577162.	NM_000325.6(PITX2):c.495G>T (p.Pro165=) GRCh37: Chr4:111539761 GRCh38: Chr4:110618605	PITX2		not provided	Likely benign (Nov 20, 2017)	criteria provided, single submitter
Select item 215541163.	NM_000325.6(PITX2):c.489C>T (p.Phe163_Gly164=) GRCh37: Chr4:111539767 GRCh38: Chr4:110618611	PITX2		Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 201944964.	NM_000325.6(PITX2):c.470_476dup (p.Cys159Ter) GRCh37: Chr4:111539779-111539780 GRCh38: Chr4:110618623-110618624	PITX2	C159, C106, C152*	Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Pathogenic (Jul 24, 2022)	criteria provided, single submitter
Select item 145804065.	NM_000325.6(PITX2):c.448_449del (p.Arg150fs) GRCh37: Chr4:111539807-111539808 GRCh38: Chr4:110618651-110618652	PITX2	R97fs, R143fs, R150fs	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37543966.	NM_000325.6(PITX2):c.433G>C (p.Ala145Pro) GRCh37: Chr4:111539823 GRCh38: Chr4:110618667	PITX2	A92P, A138P, A145P	Axenfeld-Rieger syndrome type 1	Uncertain significance (Nov 7, 2014)	no assertion criteria provided
Select item 19788367.	NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) GRCh37: Chr4:111539825 GRCh38: Chr4:110618669	PITX2	R91Q, R144Q, R137Q	Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1, not provided	Conflicting interpretations of pathogenicity (Jun 23, 2022)	criteria provided, conflicting interpretations
Select item 808768.	NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) GRCh37: Chr4:111539825 GRCh38: Chr4:110618669	PITX2	R91P, R144P, R137P	Inborn genetic diseases, Axenfeld-Rieger syndrome type 1	Pathogenic/Likely pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106835569.	NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) GRCh37: Chr4:111539826 GRCh38: Chr4:110618670	PITX2	R137W, R144W, R91W	Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1	Likely pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37543870.	NM_000325.6(PITX2):c.430C>G (p.Arg144Gly) GRCh37: Chr4:111539826 GRCh38: Chr4:110618670	PITX2	R91G, R137G, R144G	Axenfeld-Rieger syndrome type 1	Uncertain significance (Nov 21, 2014)	no assertion criteria provided
Select item 169313571.	NM_000325.6(PITX2):c.428G>C (p.Arg143Pro) GRCh37: Chr4:111539828 GRCh38: Chr4:110618672	PITX2	R136P, R143P, R90P	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 3019772.	NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) GRCh37: Chr4:111539835 GRCh38: Chr4:110618679	PITX2	K88E, K141E, K134E	Axenfeld-Rieger syndrome type 1	Pathogenic (Mar 1, 2003)	no assertion criteria provided
Select item 169313473.	NM_000325.6(PITX2):c.418T>C (p.Phe140Leu) GRCh37: Chr4:111539838 GRCh38: Chr4:110618682	PITX2	F133L, F140L, F87L	Axenfeld-Rieger syndrome type 1	Likely pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 169313374.	NM_000325.6(PITX2):c.417G>T (p.Trp139Cys) GRCh37: Chr4:111539839 GRCh38: Chr4:110618683	PITX2	W132C, W139C, W86C	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 64739475.	NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) GRCh37: Chr4:111539840 GRCh38: Chr4:110618684	PITX2	W139S, W86S, W132S	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169315676.	NM_000325.6(PITX2):c.412-1G>A GRCh37: Chr4:111539845 GRCh38: Chr4:110618689	PITX2		Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 47401177.	NM_000325.6(PITX2):c.412-2A>G GRCh37: Chr4:111539846 GRCh38: Chr4:110618690	PITX2		Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Pathogenic/Likely pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 809178.	NM_000325.6(PITX2):c.412-2A>T GRCh37: Chr4:111539846 GRCh38: Chr4:110618690	PITX2		ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE	Pathogenic (Feb 1, 1999)	no assertion criteria provided
Select item 89941479.	NM_000325.6(PITX2):c.412-7C>T GRCh37: Chr4:111539851 GRCh38: Chr4:110618695	PITX2		Cataract, PITX2-Related Eye Abnormalities, Hypoplasia of the iris, Anterior segment dysgenesis 4, Ring dermoid of cornea, Irido-corneo-trabecular dysgenesis, Axenfeld-Rieger syndrome type 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34729980.	NM_000325.6(PITX2):c.412-11del GRCh37: Chr4:111539855 GRCh38: Chr4:110618699	PITX2		Irido-corneo-trabecular dysgenesis, Cataract, Axenfeld-Rieger syndrome, PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 4, Ring dermoid of cornea, Anterior segment dysgenesis 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 808681.	NM_000325.6(PITX2):c.412-11A>G GRCh37: Chr4:111539855 GRCh38: Chr4:110618699	PITX2		Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, not provided, Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121818582.	NM_000325.6(PITX2):c.412-102G>A GRCh37: Chr4:111539946 GRCh38: Chr4:110618790	PITX2		not provided	Likely benign (Jul 31, 2018)	criteria provided, single submitter
Select item 120082583.	NM_000325.6(PITX2):c.412-271T>C GRCh37: Chr4:111540115 GRCh38: Chr4:110618959	PITX2		not provided	Likely benign (Aug 18, 2019)	criteria provided, single submitter
Select item 243113884.	NM_000325.6(PITX2):c.412-283C>A GRCh37: Chr4:111540127 GRCh38: Chr4:110618971	PITX2		Lung adenocarcinoma	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 129654185.	NM_000325.6(PITX2):c.411+196C>T GRCh37: Chr4:111542124 GRCh38: Chr4:110620968	PITX2		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 123849086.	NM_000325.6(PITX2):c.411+166C>T GRCh37: Chr4:111542154 GRCh38: Chr4:110620998	PITX2		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 808487.	NM_000325.6(PITX2):c.411+5G>C GRCh37: Chr4:111542315 GRCh38: Chr4:110621159	PITX2		Axenfeld-Rieger syndrome type 1	Pathogenic (Dec 1, 1996)	no assertion criteria provided
Select item 66247088.	NM_000325.6(PITX2):c.411+2T>G GRCh37: Chr4:111542318 GRCh38: Chr4:110621162	PITX2		Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Pathogenic (Sep 12, 2018)	criteria provided, single submitter
Select item 69506889.	NM_000325.6(PITX2):c.411+1G>A GRCh37: Chr4:111542319 GRCh38: Chr4:110621163	PITX2		Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 808990.	NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) GRCh37: Chr4:111542322 GRCh38: Chr4:110621166	PITX2	R84W, R137W, R130W	Anterior segment dysgenesis 4, Anterior segment dysgenesis	Pathogenic (Mar 31, 2020)	no assertion criteria provided
Select item 169313291.	NM_000325.6(PITX2):c.406G>T (p.Val136Phe) GRCh37: Chr4:111542325 GRCh38: Chr4:110621169	PITX2	V129F, V136F, V83F	Axenfeld-Rieger syndrome type 1	Likely pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 809292.	NM_000325.6(PITX2):c.406G>C (p.Val136Leu) GRCh37: Chr4:111542325 GRCh38: Chr4:110621169	PITX2	V83L, V136L, V129L	Axenfeld-Rieger syndrome type 1	Pathogenic (Aug 1, 2001)	no assertion criteria provided
Select item 169314693.	NM_000325.6(PITX2):c.384G>A (p.Trp128Ter) GRCh37: Chr4:111542347 GRCh38: Chr4:110621191	PITX2	W121, W128, W75*	Axenfeld-Rieger syndrome type 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 94664094.	NM_000325.6(PITX2):c.383G>A (p.Trp128Ter) GRCh37: Chr4:111542348 GRCh38: Chr4:110621192	PITX2	W128, W121, W75*	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Pathogenic (Jul 6, 2019)	criteria provided, single submitter
Select item 118458895.	NM_000325.6(PITX2):c.347_378del (p.Tyr116fs) GRCh37: Chr4:111542353-111542384 GRCh38: Chr4:110621197-110621228	PITX2	Y109fs, Y116fs, Y63fs	Axenfeld-Rieger syndrome type 1	Likely pathogenic	no assertion criteria provided
Select item 151135496.	NM_000325.6(PITX2):c.376G>A (p.Ala126Thr) GRCh37: Chr4:111542355 GRCh38: Chr4:110621199	PITX2	A73T, A119T, A126T	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Uncertain significance (Aug 5, 2021)	criteria provided, single submitter
Select item 84491697.	NM_000325.6(PITX2):c.373del (p.Ile125fs) GRCh37: Chr4:111542358 GRCh38: Chr4:110621202	PITX2	I118fs, I125fs, I72fs	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 809098.	NM_000325.6(PITX2):c.365G>A (p.Arg122His) GRCh37: Chr4:111542366 GRCh38: Chr4:110621210	PITX2	R115H, R122H, R69H	not provided	Pathogenic (Jan 28, 2016)	criteria provided, single submitter
Select item 37543699.	NM_000325.6(PITX2):c.343_364del (p.Arg115fs) GRCh37: Chr4:111542367-111542388 GRCh38: Chr4:110621211-110621232	PITX2	R115fs, R108fs, R62fs	Axenfeld-Rieger syndrome type 1	Pathogenic (Oct 12, 2015)	no assertion criteria provided
Select item 474010100.	NM_000325.6(PITX2):c.361dup (p.Thr121fs) GRCh37: Chr4:111542369-111542370 GRCh38: Chr4:110621213-110621214	PITX2	T114fs, T121fs, T68fs	Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter

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