5530[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1517141.	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 GRCh37: Chr4:93531564-102443148 GRCh38: Chr4:92610413-101521991	LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC129992866, LOC129992867, LOC129992868, LOC129992869, LOC129992870, LOC129992871, LOC129992872, LOC132088988, LOC132090708, METAP1, MIR1255A, MIR3684, MIR8066, MTTP, PDHA2, PDLIM5, PPP3CA, RAP1GDS1, SMARCAD1, SMARCAD1-DT, SNORA101A, STPG2, STPG2-AS1, TRMT10A, TSPAN5, TSPAN5-DT, UNC5C, UNC5C-AS1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, ATOH1, BMPR1B, BMPR1B-DT, C4orf17, C4orf54, DAPP1, DDIT4L, DDIT4L-AS1, DNAJB14, EIF4E, EMCN, FLJ20021, GRID2, H2AZ1, H2AZ1-DT, HPGDS, LAMTOR3, LINC01216, LINC01217, LINC01218, LINC02267, LOC100507053, LOC110121104, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC112935970, LOC112997547, LOC116158504, LOC116158505, LOC121053189, LOC121725179, LOC121725180, LOC123477788, LOC123477789, LOC123477790, LOC123477791, LOC123477792, LOC123477793, LOC123477794, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC129992848, LOC129992849		See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 580332.	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, AP1AR-DT, ARHGEF38, ARHGEF38-IT1, ARSJ, BANK1, BBS12, BBS7, BBS7-DT, 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, GAR1-DT, 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, LINC02503, LINC02516, LINC02615, LINC02945, LOC100507053, LOC101927259, LOC101929577, LOC101929621, LOC101929762, LOC102723704, LOC102725220, LOC105377352, LOC105377366, LOC105377438, 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, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129389230, LOC129389231, LOC129389232, LOC129389233, LOC129389234, LOC129389235, LOC129389236, LOC129389237, LOC129389238, LOC129992847, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC129992866, LOC129992867, LOC129992868, LOC129992869, LOC129992870, LOC129992871, LOC129992872, LOC129992873, LOC129992874, LOC129992875, LOC129992876, LOC129992877, LOC129992878, LOC129992879, LOC129992880, LOC129992881, LOC129992882, LOC129992883, LOC129992884, LOC129992885, LOC129992886, LOC129992887, LOC129992888, LOC129992889, LOC129992890, LOC129992891, LOC129992892, LOC129992893, LOC129992894, LOC129992895, LOC129992896, LOC129992897, LOC129992898, LOC129992899, LOC129992900, LOC129992901, LOC129992902, LOC129992903, LOC129992904, LOC129992905, LOC129992906, LOC129992907, LOC129992908, LOC129992909, LOC129992910, LOC129992911, LOC129992912, LOC129992913, LOC129992914, LOC129992915, LOC129992916, LOC129992917, LOC129992918, LOC129992919, LOC129992920, LOC129992921, LOC129992922, LOC129992923, LOC129992924, LOC129992925, LOC129992926, LOC129992927, LOC129992928, LOC129992929, LOC129992930, LOC129992931, LOC129992932, LOC129992933, LOC129992934, LOC129992935, LOC129992936, LOC129992937, LOC129992938, LOC129992939, LOC129992940, LOC129992941, LOC129992942, LOC129992943, LOC129992944, LOC129992945, LOC129992946, LOC129992947, LOC129992948, LOC129992949, LOC129992950, LOC129992951, LOC129992952, LOC129992953, LOC129992954, LOC129992955, LOC129992956, LOC129992957, LOC129992958, LOC129992959, LOC129992960, LOC129992961, LOC129992962, LOC129992963, LOC129992964, LOC129992965, LOC129992966, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC129992992, LOC129992993, LOC129992994, LOC129992995, LOC129992996, LOC129992997, LOC129992998, LOC129992999, LOC129993000, LOC129993001, LOC129993002, LOC129993003, LOC129993004, LOC129993005, LOC129993006, LOC129993007, LOC129993008, LOC129993009, LOC129993010, LOC129993011, LOC129993012, LOC129993013, LOC129993014, LOC129993015, LOC129993016, LOC129993017, LOC129993018, LOC129993019, LOC129993020, LOC129993021, LOC129993022, LOC129993023, LOC129993024, LOC129993025, LOC129993026, LOC129993027, LOC129993028, LOC129993029, LOC129993030, LOC129993031, LOC129993032, LOC129993033, LOC129993034, LOC129993035, LOC129993036, LOC129993037, LOC129993038, LOC129993039, LOC129993040, LOC129993041, LOC129993042, LOC129993043, LOC129993044, LOC129993045, LOC129993046, LOC129993047, LOC129993048, LOC129993049, LOC129993050, LOC129993051, LOC129993052, LOC129993053, LOC129993054, LOC129993055, LOC129993056, LOC129993057, LOC129993058, LOC129993059, LOC129993060, LOC129993061, LOC129993062, LOC129993063, LOC129993064, LOC129993065, LOC129993066, LOC129993067, LOC129993068, LOC129993069, LOC129993070, LOC129993071, LOC129993072, LOC129993073, LOC129993074, LOC129993075, LOC129993076, LOC129993077, LOC129993078, LOC129993079, LOC129993080, LOC129993081, LOC129993082, LOC129993083, LOC129993084, LOC129993085, LOC129993086, LOC129993087, LOC132088988, LOC132088989, LOC132088990, LOC132088991, LOC132088992, LOC132088993, LOC132088994, LOC132088995, LOC132088996, LOC132088997, LOC132088998, LOC132088999, LOC132089000, LOC132089001, LOC132089002, LOC132089003, LOC132089004, LOC132089005, LOC132089006, LOC132089007, LOC132089008, LOC132089009, LOC132089010, LOC132089011, LOC132089012, LOC132089013, LOC132089014, LOC132089015, LOC132089016, LOC132089017, LOC132089018, LOC132089019, LOC132089020, LOC132089021, LOC132089022, LOC132089023, LOC132089024, LOC132089025, LOC132089026, LOC132089027, LOC132089028, LOC132089029, LOC132089030, LOC132089031, LOC132089032, LOC132089033, LOC132089034, LOC132089035, LOC132089036, LOC132089037, LOC132089038, LOC132089039, LOC132089040, LOC132089041, LOC132090708, LOC132090709, LOC132090710, LOC132090711, LOC132090712, LOC132090713, LOC132090714, 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, TACR3-AS1, 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 1515313.	GRCh38/hg38 4q24(chr4:100579010-101522050)x1 GRCh37: Chr4:101500167-102443207 GRCh38: Chr4:100579010-101522050	FLJ20021, LINC01216, LINC01217, LINC01218, LOC121725180, LOC123477793, LOC123477794, LOC129992864, LOC129992865, LOC129992866, LOC129992867, LOC129992868, LOC129992869, LOC129992870, LOC129992871, LOC129992872, LOC132088988, LOC132090708, MIR1255A, MIR8066, PPP3CA		See cases	Uncertain significance (Jan 25, 2013)	no assertion criteria provided
Select item 12476684.	NM_000944.5(PPP3CA):c.*74A>G GRCh37: Chr4:101946948 GRCh38: Chr4:101025791	PPP3CA		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 12893105.	NM_000944.5(PPP3CA):c.*44del GRCh37: Chr4:101946978 GRCh38: Chr4:101025821	PPP3CA		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 12735306.	NM_000944.5(PPP3CA):c.43_44del GRCh37: Chr4:101946978-101946979 GRCh38: Chr4:101025821-101025822	PPP3CA		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 12295917.	NM_000944.5(PPP3CA):c.42_44del GRCh37: Chr4:101946978-101946980 GRCh38: Chr4:101025821-101025823	PPP3CA		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 16951018.	NM_000944.5(PPP3CA):c.*7C>A GRCh37: Chr4:101947015 GRCh38: Chr4:101025858	PPP3CA		not provided	Benign (Oct 1, 2023)	criteria provided, single submitter
Select item 19691039.	NM_000944.5(PPP3CA):c.1563G>A (p.Gln521=) GRCh37: Chr4:101947025 GRCh38: Chr4:101025868	PPP3CA		not provided	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 171956110.	NM_000944.5(PPP3CA):c.1560T>G (p.Ile520Met) GRCh37: Chr4:101947028 GRCh38: Chr4:101025871	PPP3CA	I468M, I510M, I520M	not provided	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 135694311.	NM_000944.5(PPP3CA):c.1559T>G (p.Ile520Ser) GRCh37: Chr4:101947029 GRCh38: Chr4:101025872	PPP3CA	I520S, I510S, I468S	not provided	Uncertain significance (Oct 4, 2021)	criteria provided, single submitter
Select item 250585212.	NM_000944.5(PPP3CA):c.1550GCA[1] (p.Ser518del) GRCh37: Chr4:101947033-101947035 GRCh38: Chr4:101025876-101025878	PPP3CA	S466del, S508del, S518del	not provided	Uncertain significance (Dec 14, 2022)	criteria provided, single submitter
Select item 134317813.	NM_000944.5(PPP3CA):c.1544G>A (p.Ser515Asn) GRCh37: Chr4:101947044 GRCh38: Chr4:101025887	PPP3CA	S463N, S505N, S515N	Developmental disorder	Likely benign (Mar 4, 2021)	criteria provided, single submitter
Select item 210896614.	NM_000944.5(PPP3CA):c.1532_1540dup (p.Asn513_Gly514insAspSerAsn) GRCh37: Chr4:101947047-101947048 GRCh38: Chr4:101025890-101025891	PPP3CA		not provided	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 243007615.	NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs) GRCh37: Chr4:101947050-101947051 GRCh38: Chr4:101025893-101025894	PPP3CA	N461fs, N503fs, N513fs	Autism spectrum disorder	Likely benign (Nov 19, 2020)	criteria provided, single submitter
Select item 147432516.	NM_000944.5(PPP3CA):c.1538A>G (p.Asn513Ser) GRCh37: Chr4:101947050 GRCh38: Chr4:101025893	PPP3CA	N513S, N461S, N503S	Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159748317.	NM_000944.5(PPP3CA):c.1530G>A (p.Thr510=) GRCh37: Chr4:101947058 GRCh38: Chr4:101025901	PPP3CA		not provided	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 144520018.	NM_000944.5(PPP3CA):c.1529C>T (p.Thr510Met) GRCh37: Chr4:101947059 GRCh38: Chr4:101025902	PPP3CA	T458M, T500M, T510M	not provided	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 212429219.	NM_000944.5(PPP3CA):c.1528A>T (p.Thr510Ser) GRCh37: Chr4:101947060 GRCh38: Chr4:101025903	PPP3CA	T510S, T500S, T458S	not provided	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 212265820.	NM_000944.5(PPP3CA):c.1527C>T (p.Gly509=) GRCh37: Chr4:101947061 GRCh38: Chr4:101025904	PPP3CA		not provided	Uncertain significance (May 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218788921.	NM_000944.5(PPP3CA):c.1525G>A (p.Gly509Ser) GRCh37: Chr4:101947063 GRCh38: Chr4:101025906	PPP3CA	G457S, G499S, G509S	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 161900722.	NM_000944.5(PPP3CA):c.1524C>T (p.Asn508=) GRCh37: Chr4:101947064 GRCh38: Chr4:101025907	PPP3CA		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 190492223.	NM_000944.5(PPP3CA):c.1509C>T (p.Leu503=) GRCh37: Chr4:101947079 GRCh38: Chr4:101025922	PPP3CA		not provided	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 196951424.	NM_000944.5(PPP3CA):c.1497C>T (p.Ile499=) GRCh37: Chr4:101947091 GRCh38: Chr4:101025934	PPP3CA		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 142428625.	NM_000944.5(PPP3CA):c.1492T>A (p.Ser498Thr) GRCh37: Chr4:101947096 GRCh38: Chr4:101025939	PPP3CA	S446T, S488T, S498T	not provided	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 257732926.	NM_000944.5(PPP3CA):c.1491C>A (p.Asn497Lys) GRCh37: Chr4:101947097 GRCh38: Chr4:101025940	PPP3CA	N445K, N487K, N497K	not specified	Uncertain significance (Jul 3, 2023)	criteria provided, single submitter
Select item 190964327.	NM_000944.5(PPP3CA):c.1490A>T (p.Asn497Ile) GRCh37: Chr4:101947098 GRCh38: Chr4:101025941	PPP3CA	N487I, N497I, N445I	not provided	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 143137228.	NM_000944.5(PPP3CA):c.1489A>T (p.Asn497Tyr) GRCh37: Chr4:101947099 GRCh38: Chr4:101025942	PPP3CA	N497Y, N445Y, N487Y	not provided	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 190850729.	NM_000944.5(PPP3CA):c.1484A>G (p.Asn495Ser) GRCh37: Chr4:101947104 GRCh38: Chr4:101025947	PPP3CA	N485S, N495S, N443S	not provided	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 148761530.	NM_000944.5(PPP3CA):c.1480G>T (p.Ala494Ser) GRCh37: Chr4:101947108 GRCh38: Chr4:101025951	PPP3CA	A442S, A494S, A484S	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 158008431.	NM_000944.5(PPP3CA):c.1479C>T (p.Asp493=) GRCh37: Chr4:101947109 GRCh38: Chr4:101025952	PPP3CA		not provided	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 81218432.	NM_000944.5(PPP3CA):c.1477G>A (p.Asp493Asn) GRCh37: Chr4:101947111 GRCh38: Chr4:101025954	PPP3CA	D493N, D483N, D441N	Epileptic encephalopathy, infantile or early childhood, 1	Likely pathogenic (Dec 11, 2019)	criteria provided, single submitter
Select item 162014533.	NM_000944.5(PPP3CA):c.1473C>G (p.Pro491=) GRCh37: Chr4:101947115 GRCh38: Chr4:101025958	PPP3CA		not provided	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 257999034.	NM_000944.5(PPP3CA):c.1457G>A (p.Arg486His) GRCh37: Chr4:101947131 GRCh38: Chr4:101025974	PPP3CA	R434H, R476H, R486H	not provided	Uncertain significance (Mar 3, 2023)	criteria provided, single submitter
Select item 160437535.	NM_000944.5(PPP3CA):c.1452G>A (p.Pro484=) GRCh37: Chr4:101947136 GRCh38: Chr4:101025979	PPP3CA		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 243523336.	NM_000944.5(PPP3CA):c.1445_1447dup (p.Arg482_Met483insArg) GRCh37: Chr4:101947140-101947141 GRCh38: Chr4:101025983-101025984	PPP3CA		not provided	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 149488437.	NM_000944.5(PPP3CA):c.1433G>A (p.Arg478Gln) GRCh37: Chr4:101947155 GRCh38: Chr4:101025998	PPP3CA	R468Q, R426Q, R478Q	Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161737638.	NM_000944.5(PPP3CA):c.1428A>G (p.Leu476=) GRCh37: Chr4:101947160 GRCh38: Chr4:101026003	PPP3CA		Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1, not provided	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170571739.	NM_000944.5(PPP3CA):c.1427T>C (p.Leu476Ser) GRCh37: Chr4:101947161 GRCh38: Chr4:101026004	PPP3CA	L424S, L466S, L476S	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 155673340.	NM_000944.5(PPP3CA):c.1425C>T (p.Gly475=) GRCh37: Chr4:101947163 GRCh38: Chr4:101026006	PPP3CA		not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243044741.	NM_000944.5(PPP3CA):c.1421A>C (p.Lys474Thr) GRCh37: Chr4:101947167 GRCh38: Chr4:101026010	PPP3CA	K422T, K464T, K474T	not provided	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 106470342.	NM_000944.5(PPP3CA):c.1417G>T (p.Ala473Ser) GRCh37: Chr4:101947171 GRCh38: Chr4:101026014	PPP3CA	A421S, A463S, A473S	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Pathogenic (Jan 29, 2021)	criteria provided, single submitter
Select item 59924143.	NM_000944.5(PPP3CA):c.1417G>A (p.Ala473Thr) GRCh37: Chr4:101947171 GRCh38: Chr4:101026014	PPP3CA	A473T, A421T, A463T	not provided	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 250446844.	NM_000944.5(PPP3CA):c.1411G>A (p.Glu471Lys) GRCh37: Chr4:101947177 GRCh38: Chr4:101026020	PPP3CA	E419K, E461K, E471K	not provided	Uncertain significance (Nov 25, 2022)	criteria provided, single submitter
Select item 226557045.	NM_000944.5(PPP3CA):c.1410C>G (p.Phe470Leu) GRCh37: Chr4:101947178 GRCh38: Chr4:101026021	PPP3CA	F418L, F470L, F460L	Inborn genetic diseases	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 154625146.	NM_000944.5(PPP3CA):c.1410C>T (p.Phe470=) GRCh37: Chr4:101947178 GRCh38: Chr4:101026021	PPP3CA		not provided	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 59924047.	NM_000944.5(PPP3CA):c.1408T>C (p.Phe470Leu) GRCh37: Chr4:101947180 GRCh38: Chr4:101026023	PPP3CA	F470L, F418L, F460L	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Pathogenic (Jan 2, 2019)	no assertion criteria provided
Select item 205325148.	NM_000944.5(PPP3CA):c.1397A>C (p.Lys466Thr) GRCh37: Chr4:101947191 GRCh38: Chr4:101026034	PPP3CA	K466T, K456T, K414T	not provided	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 81714349.	NM_000944.5(PPP3CA):c.1394del (p.His465fs) GRCh37: Chr4:101947194 GRCh38: Chr4:101026037	PPP3CA	H413fs, H455fs, H465fs	not provided	Likely pathogenic (Jul 27, 2018)	criteria provided, single submitter
Select item 164950750.	NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=) GRCh37: Chr4:101947199 GRCh38: Chr4:101026042	PPP3CA		not provided, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Likely benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 71141351.	NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=) GRCh37: Chr4:101947202 GRCh38: Chr4:101026045	PPP3CA		Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1, not provided	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170314852.	NM_000944.5(PPP3CA):c.1370-8C>G GRCh37: Chr4:101947226 GRCh38: Chr4:101026069	PPP3CA		not provided	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 165527453.	NM_000944.5(PPP3CA):c.1370-8C>T GRCh37: Chr4:101947226 GRCh38: Chr4:101026069	PPP3CA		not provided	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 195592854.	NM_000944.5(PPP3CA):c.1369+18C>G GRCh37: Chr4:101950305 GRCh38: Chr4:101029148	PPP3CA		not provided	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 212164055.	NM_000944.5(PPP3CA):c.1369+17C>T GRCh37: Chr4:101950306 GRCh38: Chr4:101029149	PPP3CA		not provided	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 163955256.	NM_000944.5(PPP3CA):c.1369+15C>A GRCh37: Chr4:101950308 GRCh38: Chr4:101029151	PPP3CA		not provided	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 154003257.	NM_000944.5(PPP3CA):c.1369+13G>C GRCh37: Chr4:101950310 GRCh38: Chr4:101029153	PPP3CA		not provided	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 208023458.	NM_000944.5(PPP3CA):c.1366G>A (p.Glu456Lys) GRCh37: Chr4:101950326 GRCh38: Chr4:101029169	PPP3CA	E456K	not provided	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 169093959.	NM_000944.5(PPP3CA):c.1366G>T (p.Glu456Ter) GRCh37: Chr4:101950326 GRCh38: Chr4:101029169	PPP3CA	E456*	See cases, not provided	Pathogenic/Likely pathogenic (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214349360.	NM_000944.5(PPP3CA):c.1365T>C (p.Asp455=) GRCh37: Chr4:101950327 GRCh38: Chr4:101029170	PPP3CA		not provided	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 145101661.	NM_000944.5(PPP3CA):c.1354A>G (p.Ile452Val) GRCh37: Chr4:101950338 GRCh38: Chr4:101029181	PPP3CA	I452V	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 172222862.	NM_000944.5(PPP3CA):c.1352C>T (p.Ala451Val) GRCh37: Chr4:101950340 GRCh38: Chr4:101029183	PPP3CA	A451V	not provided	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 258452363.	NM_000944.5(PPP3CA):c.1341_1344del (p.Thr448fs) GRCh37: Chr4:101950348-101950351 GRCh38: Chr4:101029191-101029194	PPP3CA	T448fs	PPP3CA-related disorders	Likely pathogenic	criteria provided, single submitter
Select item 48871264.	NM_000944.5(PPP3CA):c.1340-2A>G GRCh37: Chr4:101950354 GRCh38: Chr4:101029197	PPP3CA		not provided	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 163677865.	NM_000944.5(PPP3CA):c.1340-15C>T GRCh37: Chr4:101950367 GRCh38: Chr4:101029210	PPP3CA		not provided	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 123547966.	NM_000944.5(PPP3CA):c.1340-178_1340-159del GRCh37: Chr4:101950511-101950530 GRCh38: Chr4:101029354-101029373	PPP3CA		not provided	Benign (May 20, 2021)	criteria provided, single submitter
Select item 122905867.	NM_000944.5(PPP3CA):c.1340-184T>G GRCh37: Chr4:101950536 GRCh38: Chr4:101029379	PPP3CA		not provided	Benign (May 19, 2021)	criteria provided, single submitter
Select item 124391668.	NM_000944.5(PPP3CA):c.1339+102G>A GRCh37: Chr4:101953322 GRCh38: Chr4:101032165	LOC123477793, PPP3CA		not provided	Benign (May 14, 2021)	criteria provided, single submitter
Select item 159928769.	NM_000944.5(PPP3CA):c.1339+13_1339+15dup GRCh37: Chr4:101953408-101953409 GRCh38: Chr4:101032251-101032252	LOC123477793, PPP3CA		not provided, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142433170.	NM_000944.5(PPP3CA):c.1339+10C>T GRCh37: Chr4:101953414 GRCh38: Chr4:101032257	LOC123477793, PPP3CA		not provided	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 44127371.	NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr) GRCh37: Chr4:101953424 GRCh38: Chr4:101032267	PPP3CA	A447T, A405T	Epileptic encephalopathy, infantile or early childhood, 1, not provided	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158383672.	NM_000944.5(PPP3CA):c.1338C>T (p.Ser446=) GRCh37: Chr4:101953425 GRCh38: Chr4:101032268	PPP3CA		not provided	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 44127173.	NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter) GRCh37: Chr4:101953430 GRCh38: Chr4:101032273	PPP3CA	Q445, Q403	Epileptic encephalopathy, infantile or early childhood, 1	Pathogenic (Mar 15, 2021)	no assertion criteria provided
Select item 80208074.	NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs) GRCh37: Chr4:101953448-101953452 GRCh38: Chr4:101032291-101032295	PPP3CA	S438fs, S396fs	Epileptic encephalopathy, infantile or early childhood, 1	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 52280275.	NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs) GRCh37: Chr4:101953451-101953452 GRCh38: Chr4:101032294-101032295	PPP3CA	S438fs, S396fs	Epileptic encephalopathy, infantile or early childhood, 1	Pathogenic (Nov 26, 2017)	criteria provided, single submitter
Select item 145878576.	NM_000944.5(PPP3CA):c.1302C>T (p.Ser434=) GRCh37: Chr4:101953461 GRCh38: Chr4:101032304	PPP3CA		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 172170677.	NM_000944.5(PPP3CA):c.1301G>C (p.Ser434Thr) GRCh37: Chr4:101953462 GRCh38: Chr4:101032305	PPP3CA	S392T, S434T	not provided	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 106470278.	NM_000944.5(PPP3CA):c.1299dup (p.Ser434fs) GRCh37: Chr4:101953463-101953464 GRCh38: Chr4:101032306-101032307	PPP3CA	S392fs, S434fs	Epileptic encephalopathy, infantile or early childhood, 1	Pathogenic (Jan 29, 2021)	criteria provided, single submitter
Select item 119216179.	NM_000944.5(PPP3CA):c.1292T>C (p.Met431Thr) GRCh37: Chr4:101953471 GRCh38: Chr4:101032314	PPP3CA	M389T, M431T	not provided	Uncertain significance (Jul 3, 2019)	criteria provided, single submitter
Select item 59923980.	NM_000944.5(PPP3CA):c.1290dup (p.Met431fs) GRCh37: Chr4:101953472-101953473 GRCh38: Chr4:101032315-101032316	PPP3CA	M431fs, M389fs	Epileptic encephalopathy, infantile or early childhood, 1	Pathogenic (Mar 15, 2021)	no assertion criteria provided
Select item 93147581.	NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs) GRCh37: Chr4:101953479-101953480 GRCh38: Chr4:101032322-101032323	PPP3CA	T387fs, T429fs	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1, not provided	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62401682.	NM_000944.5(PPP3CA):c.1271_1274dup (p.Leu426fs) GRCh37: Chr4:101953488-101953489 GRCh38: Chr4:101032331-101032332	PPP3CA	L426fs, L384fs	not provided	Likely pathogenic (Jul 1, 2018)	criteria provided, single submitter
Select item 192991283.	NM_000944.5(PPP3CA):c.1266G>A (p.Thr422=) GRCh37: Chr4:101953497 GRCh38: Chr4:101032340	PPP3CA		not provided	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 148382184.	NM_000944.5(PPP3CA):c.1265C>T (p.Thr422Met) GRCh37: Chr4:101953498 GRCh38: Chr4:101032341	PPP3CA	T380M, T422M	Inborn genetic diseases, Epileptic encephalopathy, infantile or early childhood, 1, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, not provided	Uncertain significance (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164272185.	NM_000944.5(PPP3CA):c.1260G>A (p.Val420=) GRCh37: Chr4:101953503 GRCh38: Chr4:101032346	PPP3CA		not provided	Likely benign (Dec 21, 2020)	criteria provided, single submitter
Select item 49663686.	NM_000944.5(PPP3CA):c.1255_1256del (p.Ser419fs) GRCh37: Chr4:101953507-101953508 GRCh38: Chr4:101032350-101032351	PPP3CA	S377fs, S419fs	not provided	Pathogenic (Aug 30, 2023)	criteria provided, single submitter
Select item 136646487.	NM_000944.5(PPP3CA):c.1251_1254del (p.Ser417fs) GRCh37: Chr4:101953509-101953512 GRCh38: Chr4:101032352-101032355	PPP3CA	S417fs, S375fs	not provided	Pathogenic (May 5, 2021)	criteria provided, single submitter
Select item 170317388.	NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs) GRCh37: Chr4:101953511-101953512 GRCh38: Chr4:101032354-101032355	PPP3CA	S375fs, S417fs	Epileptic encephalopathy, infantile or early childhood, 1	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 203189389.	NM_000944.5(PPP3CA):c.1248G>A (p.Glu416=) GRCh37: Chr4:101953515 GRCh38: Chr4:101032358	PPP3CA		not provided	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 147683890.	NM_000944.5(PPP3CA):c.1245A>C (p.Glu415Asp) GRCh37: Chr4:101953518 GRCh38: Chr4:101032361	PPP3CA	E373D, E415D	not provided	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 202613291.	NM_000944.5(PPP3CA):c.1242-14_1242-12del GRCh37: Chr4:101953533-101953535 GRCh38: Chr4:101032376-101032378	PPP3CA		not provided	Uncertain significance (Apr 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 222565792.	NM_000944.5(PPP3CA):c.1242-13T>G GRCh37: Chr4:101953534 GRCh38: Chr4:101032377	PPP3CA		Inborn genetic diseases	Uncertain significance (Jul 2, 2020)	criteria provided, single submitter
Select item 192230893.	NM_000944.5(PPP3CA):c.1242-17C>A GRCh37: Chr4:101953538 GRCh38: Chr4:101032381	PPP3CA		not provided	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 193130194.	NM_000944.5(PPP3CA):c.1241+19T>C GRCh37: Chr4:101961620 GRCh38: Chr4:101040463	PPP3CA		not provided	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 164492395.	NM_000944.5(PPP3CA):c.1241+17T>C GRCh37: Chr4:101961622 GRCh38: Chr4:101040465	PPP3CA		not provided, Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Epileptic encephalopathy, infantile or early childhood, 1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160449496.	NM_000944.5(PPP3CA):c.1241+13G>A GRCh37: Chr4:101961626 GRCh38: Chr4:101040469	PPP3CA		not provided	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 153496797.	NM_000944.5(PPP3CA):c.1241+12C>T GRCh37: Chr4:101961627 GRCh38: Chr4:101040470	PPP3CA		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 196762898.	NM_000944.5(PPP3CA):c.1241+7G>A GRCh37: Chr4:101961632 GRCh38: Chr4:101040475	PPP3CA		not provided	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 147995799.	NM_000944.5(PPP3CA):c.1241+3G>T GRCh37: Chr4:101961636 GRCh38: Chr4:101040479	PPP3CA		not provided	Uncertain significance (Jan 28, 2021)	criteria provided, single submitter
Select item 1525729100.	NM_000944.5(PPP3CA):c.1240A>G (p.Arg414Gly) GRCh37: Chr4:101961640 GRCh38: Chr4:101040483	PPP3CA	R414G, R372G	not provided	Likely pathogenic (Jun 16, 2022)	criteria provided, single submitter

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