8556[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1463501.	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 GRCh37: Chr1:83923008-104816539 GRCh38: Chr1:83457325-104273917	ABCA4, ABCD3, AGL, ALG14, ALG14-AS1, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ARHGAP29, BARHL2, BCAR3, BCAR3-AS1, BCL10, BCL10-AS1, BRDT, BTBD8, C1orf146, C1orf52, CCDC18, CCDC18-AS1, CCN1, CDC14A, CDC7, CLCA1, CLCA2, CLCA4, CLCA4-AS1, CNN3, CNN3-DT, COL11A1, COL24A1, CTBS, DBT, DDAH1, DIPK1A, DNAI3, DNASE2B, DNTTIP2, DPH5, DPH5-DT, DPYD, DPYD-AS1, DPYD-AS2, DR1, EPHX4, EVI5, EXTL2, F3, FNBP1L, FRRS1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GFI1, GLMN, GNG5, GPR88, GTF2B, HFM1, HS2ST1, KYAT3, LINC01140, LINC01307, LINC01349, LINC01364, LINC01461, LINC01555, LINC01650, LINC01708, LINC01709, LINC01725, LINC01760, LINC01761, LINC01763, LINC01776, LINC01787, LINC01930, LINC02607, LINC02609, LINC02787, LINC02788, LINC02790, LINC02795, LINC02801, LMO4, LOC101927560, LOC107457601, LOC110120602, LOC110120664, LOC110120716, LOC110120739, LOC110120776, LOC110120795, LOC110120959, LOC110120990, LOC110121010, LOC110121023, LOC110121031, LOC111556158, LOC112590824, LOC112590826, LOC112590827, LOC112590828, LOC113939989, LOC115801431, LOC115801432, LOC115801433, LOC115801434, LOC115801435, LOC115801436, LOC120893144, LOC120893145, LOC120893146, LOC120893147, LOC120893148, LOC121725035, LOC121725036, LOC121725037, LOC121725038, LOC121725039, LOC121725040, LOC121725041, LOC121725042, LOC122094856, LOC122094857, LOC122094858, LOC122094859, LOC122094860, LOC122094861, LOC122094862, LOC122094863, LOC122094864, LOC122094865, LOC122094866, LOC122094867, LOC122094868, LOC122094869, LOC122094870, LOC122094871, LOC122094872, LOC122094873, LOC122094874, LOC122094875, LOC122094876, LOC122094877, LOC122094878, LOC122094879, LOC122094880, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC126805775, LOC126805776, LOC126805777, LOC126805778, LOC126805779, LOC126805780, LOC126805781, LOC126805782, LOC126805783, LOC126805784, LOC126805785, LOC126805786, LOC126805787, LOC126805788, LOC126805789, LOC126805790, LOC126805791, LOC126805792, LOC126805793, LOC126805794, LOC126805795, LOC126805796, LOC126805797, LOC126805798, LOC126805799, LOC126805800, LOC126805801, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC128092251, LPAR3, LRRC39, LRRC8B, LRRC8C, LRRC8C-DT, LRRC8D, MCOLN2, MCOLN3, MFSD14A, MIG7, MIR12133, MIR137, MIR137HG, MIR2682, MIR378G, MIR4423, MIR553, MIR760, MIR7856, MTF2, ODF2L, OLFM3, PALMD, PKN2, PKN2-AS1, PLPPR4, PLPPR5, PLPPR5-AS1, PRKACB, PTBP2, RBMXL1, RNPC3, RNPC3-DT, RPAP2, RPF1, RPL5, RTCA, RTCA-AS1, RWDD3, RWDD3-DT, S1PR1, S1PR1-DT, SAMD13, SASS6, SELENOF, SETSIP, SH3GLB1, SLC30A7, SLC35A3, SLC44A3, SLC44A3-AS1, SNORA66, SNORD21, SNORD3G, SNX7, SPATA1, SSX2IP, SYDE2, TGFBR3, TLCD4, TLCD4-RWDD3, TMED5, TRC-GCA7-1, TRMT13, TRR-TCT1-1, TTLL7, TTLL7-IT1, VCAM1, ZNF326, ZNF644, ZNHIT6		See cases	Pathogenic (Feb 18, 2011)	no assertion criteria provided
Select item 1460072.	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 GRCh37: Chr1:97737905-109435760 GRCh38: Chr1:97272349-108893138	AGL, AKNAD1, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, CDC14A, COL11A1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS1, DPYD-AS2, EEIG2, EXTL2, FNDC7, FRRS1, GPR88, GPSM2, HENMT1, LINC01307, LINC01349, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC111556158, LOC112577470, LOC115801437, LOC120893148, LOC120893149, LOC120893150, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LRRC39, MFSD14A, MIR137, MIR137HG, MIR2682, MIR553, MIR7852, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PRPF38B, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SASS6, SLC25A24, SLC30A7, SLC35A3, SNX7, SPATA42, STXBP3, TRMT13, VAV3, VAV3-AS1, VCAM1		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 600053.	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 GRCh37: Chr1:97876158-111213132 GRCh38: Chr1:97410602-110670510	AGL, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, CDC14A, CELSR2, CFAP276, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS2, EEIG2, ELAPOR1, EPS8L3, EXTL2, FNDC7, FRRS1, GNAI3, GNAT2, GPR61, GPR88, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01307, LINC01349, LINC01397, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC110121283, LOC110121285, LOC111556158, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC115801437, LOC115801438, LOC120893148, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LRRC39, MFSD14A, MIR137, MIR137HG, MIR197, MIR2682, MIR553, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SARS1, SASS6, SCARNA2, SLC16A4, SLC25A24, SLC30A7, SLC35A3, SLC6A17, SLC6A17-AS1, SNX7, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TRMT13, UBL4B, VAV3, VAV3-AS1, VCAM1, WDR47		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 11869244.	NM_001319211.2(CDC14A):c.-125-1565G>A GRCh37: Chr1:100817753 GRCh38: Chr1:100352197	CDC14A		not provided	Likely benign (Mar 28, 2019)	criteria provided, single submitter
Select item 11897795.	NM_001319211.2(CDC14A):c.-125-1564C>G GRCh37: Chr1:100817754 GRCh38: Chr1:100352198	CDC14A		not provided	Likely benign (Mar 28, 2019)	criteria provided, single submitter
Select item 11972616.	NM_003672.3(CDC14A):c.-470A>G GRCh37: Chr1:100818041 GRCh38: Chr1:100352485	CDC14A		not provided	Likely benign (Mar 3, 2019)	criteria provided, single submitter
Select item 12347937.	NM_003672.4(CDC14A):c.-333G>C GRCh37: Chr1:100818178 GRCh38: Chr1:100352622	CDC14A		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 12947308.	NM_003672.4(CDC14A):c.-225A>T GRCh37: Chr1:100818286 GRCh38: Chr1:100352730	CDC14A		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 11927119.	NM_003672.4(CDC14A):c.-47T>C GRCh37: Chr1:100818464 GRCh38: Chr1:100352908	CDC14A		Autosomal recessive nonsyndromic hearing loss 32	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 50814910.	NM_003672.4(CDC14A):c.-47= GRCh37: Chr1:100818464 GRCh38: Chr1:100352908	CDC14A		not specified	Likely benign (Nov 10, 2017)	criteria provided, single submitter
Select item 51374211.	NM_003672.4(CDC14A):c.-14del GRCh37: Chr1:100818497 GRCh38: Chr1:100352941	CDC14A		not specified	Likely benign (Dec 4, 2017)	criteria provided, single submitter
Select item 66680212.	NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg) GRCh37: Chr1:100818538 GRCh38: Chr1:100352982	CDC14A	G10R	not specified, not provided	Conflicting interpretations of pathogenicity (Mar 11, 2019)	criteria provided, conflicting interpretations
Select item 112011313.	NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr) GRCh37: Chr1:100818541 GRCh38: Chr1:100352985	CDC14A	A11T	not specified, not provided	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 120287214.	NM_003672.4(CDC14A):c.49+135A>G GRCh37: Chr1:100818694 GRCh38: Chr1:100353138	CDC14A		not provided	Likely benign (Feb 14, 2019)	criteria provided, single submitter
Select item 127844015.	NM_003672.4(CDC14A):c.49+169T>G GRCh37: Chr1:100818728 GRCh38: Chr1:100353172	CDC14A		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 68296516.	NM_003672.4(CDC14A):c.50-45T>C GRCh37: Chr1:100819273 GRCh38: Chr1:100353717	CDC14A		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 129931217.	NM_003672.4(CDC14A):c.50-1G>T GRCh37: Chr1:100819317 GRCh38: Chr1:100353761	CDC14A		Autosomal recessive nonsyndromic hearing loss 32	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 153121618.	NM_003672.4(CDC14A):c.60T>C (p.Tyr20=) GRCh37: Chr1:100819328 GRCh38: Chr1:100353772	CDC14A		not provided	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 147249819.	NM_003672.4(CDC14A):c.98A>G (p.Asn33Ser) GRCh37: Chr1:100819366 GRCh38: Chr1:100353810	CDC14A	N33S	not provided	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 120706820.	NM_003672.4(CDC14A):c.140+281C>G GRCh37: Chr1:100819689 GRCh38: Chr1:100354133	CDC14A		not provided	Likely benign (Jan 2, 2019)	criteria provided, single submitter
Select item 121255621.	NM_003672.4(CDC14A):c.141-293T>C GRCh37: Chr1:100842809 GRCh38: Chr1:100377253	CDC14A		not provided	Likely benign (Jan 25, 2019)	criteria provided, single submitter
Select item 124237522.	NM_003672.4(CDC14A):c.141-229G>T GRCh37: Chr1:100842873 GRCh38: Chr1:100377317	CDC14A		not provided	Benign (Dec 23, 2018)	criteria provided, single submitter
Select item 51757123.	NM_003672.4(CDC14A):c.192C>T (p.Cys64=) GRCh37: Chr1:100843153 GRCh38: Chr1:100377597	CDC14A		not specified, not provided	Likely benign (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241099424.	NM_003672.4(CDC14A):c.203A>G (p.Asn68Ser) GRCh37: Chr1:100843164 GRCh38: Chr1:100377608	CDC14A	N68S, N10S	Inborn genetic diseases	Uncertain significance (Dec 2, 2022)	criteria provided, single submitter
Select item 138828125.	NM_003672.4(CDC14A):c.214A>G (p.Lys72Glu) GRCh37: Chr1:100843175 GRCh38: Chr1:100377619	CDC14A	K14E, K72E	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 125127826.	NM_003672.4(CDC14A):c.217-263T>A GRCh37: Chr1:100856025 GRCh38: Chr1:100390469	CDC14A		not provided	Benign (Dec 23, 2018)	criteria provided, single submitter
Select item 191763227.	NM_003672.4(CDC14A):c.217-20T>A GRCh37: Chr1:100856268 GRCh38: Chr1:100390712	CDC14A		not provided	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 202647128.	NM_003672.4(CDC14A):c.217-7T>C GRCh37: Chr1:100856281 GRCh38: Chr1:100390725	CDC14A		not provided	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 169712529.	NM_003672.4(CDC14A):c.251A>G (p.Tyr84Cys) GRCh37: Chr1:100856322 GRCh38: Chr1:100390766	CDC14A	Y26C, Y84C	not provided	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 230022730.	NM_003672.4(CDC14A):c.254C>G (p.Thr85Ser) GRCh37: Chr1:100856325 GRCh38: Chr1:100390769	CDC14A	T27S, T85S	Inborn genetic diseases	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 205992931.	NM_003672.4(CDC14A):c.302C>G (p.Ala101Gly) GRCh37: Chr1:100856373 GRCh38: Chr1:100390817	CDC14A	A43G, A101G	not provided	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 50603532.	NM_003672.4(CDC14A):c.309A>C (p.Ala103=) GRCh37: Chr1:100856380 GRCh38: Chr1:100390824	CDC14A		not provided, not specified	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118137733.	NM_003672.4(CDC14A):c.309+99C>T GRCh37: Chr1:100856479 GRCh38: Chr1:100390923	CDC14A		not provided	Benign (Jun 24, 2018)	criteria provided, single submitter
Select item 125805034.	NM_003672.4(CDC14A):c.309+145A>G GRCh37: Chr1:100856525 GRCh38: Chr1:100390969	CDC14A		not provided	Benign (Dec 12, 2020)	criteria provided, single submitter
Select item 126001035.	NM_003672.4(CDC14A):c.309+267A>T GRCh37: Chr1:100856647 GRCh38: Chr1:100391091	CDC14A		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 154121236.	NM_003672.4(CDC14A):c.310-9450A>T GRCh37: Chr1:100880328 GRCh38: Chr1:100414772	CDC14A		not provided	Benign (Oct 28, 2022)	criteria provided, single submitter
Select item 125257437.	NM_003672.4(CDC14A):c.310-18A>G GRCh37: Chr1:100889760 GRCh38: Chr1:100424204	CDC14A		not provided	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 254039638.	NM_003672.4(CDC14A):c.340G>A (p.Ala114Thr) GRCh37: Chr1:100889808 GRCh38: Chr1:100424252	CDC14A	A114T, A56T	Inborn genetic diseases	Uncertain significance (Apr 25, 2023)	criteria provided, single submitter
Select item 171211639.	NM_003672.4(CDC14A):c.349G>A (p.Ala117Thr) GRCh37: Chr1:100889817 GRCh38: Chr1:100424261	CDC14A	A117T, A59T	not provided	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 219719440.	NM_003672.4(CDC14A):c.375del (p.Tyr126fs) GRCh37: Chr1:100889837 GRCh38: Chr1:100424281	CDC14A	Y68fs, Y126fs	not provided	Pathogenic (Dec 20, 2021)	criteria provided, single submitter
Select item 170861541.	NM_003672.4(CDC14A):c.370C>G (p.Pro124Ala) GRCh37: Chr1:100889838 GRCh38: Chr1:100424282	CDC14A	P124A, P66A	not provided	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 257179042.	NM_003672.4(CDC14A):c.374C>T (p.Pro125Leu) GRCh37: Chr1:100889842 GRCh38: Chr1:100424286	CDC14A	P125L, P67L	not provided	Uncertain significance (Jun 26, 2023)	criteria provided, single submitter
Select item 237395543.	NM_003672.4(CDC14A):c.374C>A (p.Pro125His) GRCh37: Chr1:100889842 GRCh38: Chr1:100424286	CDC14A	P125H, P67H	not provided, Inborn genetic diseases	Uncertain significance (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66680144.	NM_003672.4(CDC14A):c.374C>G (p.Pro125Arg) GRCh37: Chr1:100889842 GRCh38: Chr1:100424286	CDC14A	P67R, P125R	not specified	Uncertain significance (Nov 20, 2018)	criteria provided, single submitter
Select item 55943745.	NM_003672.4(CDC14A):c.376del (p.Tyr126fs) GRCh37: Chr1:100889844 GRCh38: Chr1:100424288	CDC14A	Y126fs, Y68fs	Autosomal recessive nonsyndromic hearing loss 32	Pathogenic (Aug 3, 2018)	no assertion criteria provided
Select item 121721846.	NM_003672.4(CDC14A):c.390-142G>A GRCh37: Chr1:100905346 GRCh38: Chr1:100439790	CDC14A		not provided	Likely benign (Nov 10, 2018)	criteria provided, single submitter
Select item 119651047.	NM_003672.4(CDC14A):c.390-83C>T GRCh37: Chr1:100905405 GRCh38: Chr1:100439849	CDC14A		not provided	Likely benign (Sep 29, 2018)	criteria provided, single submitter
Select item 93006448.	NM_003672.4(CDC14A):c.394G>T (p.Ala132Ser) GRCh37: Chr1:100905492 GRCh38: Chr1:100439936	CDC14A	A74S, A132S	not specified	Uncertain significance (May 22, 2019)	criteria provided, single submitter
Select item 63829049.	NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter) GRCh37: Chr1:100905515 GRCh38: Chr1:100439959	CDC14A	Y139, Y81	Autosomal recessive nonsyndromic hearing loss 32	Pathogenic (Nov 5, 2018)	criteria provided, single submitter
Select item 139296750.	NM_003672.4(CDC14A):c.456G>A (p.Lys152=) GRCh37: Chr1:100905554 GRCh38: Chr1:100439998	CDC14A		not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 123493051.	NM_003672.4(CDC14A):c.456+15C>G GRCh37: Chr1:100905569 GRCh38: Chr1:100440013	CDC14A		not provided	Benign (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118161552.	NM_003672.4(CDC14A):c.456+15C>T GRCh37: Chr1:100905569 GRCh38: Chr1:100440013	CDC14A		not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121169253.	NM_003672.4(CDC14A):c.456+111A>G GRCh37: Chr1:100905665 GRCh38: Chr1:100440109	CDC14A		not provided	Likely benign (Jun 20, 2019)	criteria provided, single submitter
Select item 121764854.	NM_003672.4(CDC14A):c.456+208G>A GRCh37: Chr1:100905762 GRCh38: Chr1:100440206	CDC14A		not provided	Likely benign (Feb 14, 2019)	criteria provided, single submitter
Select item 124296655.	NM_003672.4(CDC14A):c.457-166A>G GRCh37: Chr1:100908324 GRCh38: Chr1:100442768	CDC14A		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 66708456.	NM_003672.4(CDC14A):c.457-6T>C GRCh37: Chr1:100908484 GRCh38: Chr1:100442928	CDC14A		not provided, not specified, Autosomal recessive nonsyndromic hearing loss 32	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164938357.	NM_003672.4(CDC14A):c.471A>C (p.Gly157=) GRCh37: Chr1:100908504 GRCh38: Chr1:100442948	CDC14A		not provided	Benign (Aug 15, 2022)	criteria provided, single submitter
Select item 138331258.	NM_003672.4(CDC14A):c.476T>A (p.Phe159Tyr) GRCh37: Chr1:100908509 GRCh38: Chr1:100442953	CDC14A	F101Y, F159Y	not provided	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 140558759.	NM_003672.4(CDC14A):c.512A>T (p.His171Leu) GRCh37: Chr1:100908545 GRCh38: Chr1:100442989	CDC14A	H113L, H171L	not provided	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126061460.	NM_003672.4(CDC14A):c.519+25A>T GRCh37: Chr1:100908577 GRCh38: Chr1:100443021	CDC14A		not provided	Benign (Jun 24, 2018)	criteria provided, single submitter
Select item 127305361.	NM_003672.4(CDC14A):c.519+82T>C GRCh37: Chr1:100908634 GRCh38: Chr1:100443078	CDC14A		not provided	Benign (Jul 23, 2018)	criteria provided, single submitter
Select item 128091962.	NM_003672.4(CDC14A):c.519+126G>T GRCh37: Chr1:100908678 GRCh38: Chr1:100443122	CDC14A		not provided	Benign (Dec 12, 2018)	criteria provided, single submitter
Select item 128576863.	NM_003672.4(CDC14A):c.519+174A>G GRCh37: Chr1:100908726 GRCh38: Chr1:100443170	CDC14A		not provided	Benign (Dec 23, 2018)	criteria provided, single submitter
Select item 120158264.	NM_003672.4(CDC14A):c.520-60C>T GRCh37: Chr1:100920901 GRCh38: Chr1:100455345	CDC14A		not provided	Likely benign (Jul 28, 2018)	criteria provided, single submitter
Select item 119620165.	NM_003672.4(CDC14A):c.520-16T>C GRCh37: Chr1:100920945 GRCh38: Chr1:100455389	CDC14A		not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66736766.	NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter) GRCh37: Chr1:100920961 GRCh38: Chr1:100455405	CDC14A	R116, R174	Rare genetic deafness	Likely pathogenic (Aug 8, 2018)	criteria provided, single submitter
Select item 247562067.	NM_003672.4(CDC14A):c.523G>A (p.Val175Ile) GRCh37: Chr1:100920964 GRCh38: Chr1:100455408	CDC14A	V117I, V175I	Inborn genetic diseases	Uncertain significance (Jan 11, 2023)	criteria provided, single submitter
Select item 135285768.	NM_003672.4(CDC14A):c.542A>G (p.Asn181Ser) GRCh37: Chr1:100920983 GRCh38: Chr1:100455427	CDC14A	N181S, N123S	not provided	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 170725269.	NM_003672.4(CDC14A):c.581C>G (p.Pro194Arg) GRCh37: Chr1:100921022 GRCh38: Chr1:100455466	CDC14A	P136R, P194R	not provided	Likely pathogenic (Sep 15, 2022)	criteria provided, single submitter
Select item 144836070.	NM_003672.4(CDC14A):c.586C>T (p.Pro196Ser) GRCh37: Chr1:100921027 GRCh38: Chr1:100455471	CDC14A	P138S, P196S	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 157630271.	NM_003672.4(CDC14A):c.607+14dup GRCh37: Chr1:100921053-100921054 GRCh38: Chr1:100455497-100455498	CDC14A		not provided	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 68418572.	NM_003672.4(CDC14A):c.607+30C>A GRCh37: Chr1:100921078 GRCh38: Chr1:100455522	CDC14A		not provided	Likely benign (Jun 16, 2018)	criteria provided, single submitter
Select item 126528673.	NM_003672.4(CDC14A):c.607+142A>G GRCh37: Chr1:100921190 GRCh38: Chr1:100455634	CDC14A		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 120382574.	NM_003672.4(CDC14A):c.607+182A>T GRCh37: Chr1:100921230 GRCh38: Chr1:100455674	CDC14A		not provided	Likely benign (Jan 2, 2019)	criteria provided, single submitter
Select item 126033475.	NM_003672.4(CDC14A):c.608-152G>T GRCh37: Chr1:100928055 GRCh38: Chr1:100462499	CDC14A		not provided	Benign (Dec 23, 2018)	criteria provided, single submitter
Select item 50603676.	NM_003672.4(CDC14A):c.608-10G>A GRCh37: Chr1:100928197 GRCh38: Chr1:100462641	CDC14A		not specified, not provided	Benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171121977.	NM_003672.4(CDC14A):c.608-7C>A GRCh37: Chr1:100928200 GRCh38: Chr1:100462644	CDC14A		not provided	Likely benign (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193959578.	NM_003672.4(CDC14A):c.613C>T (p.Pro205Ser) GRCh37: Chr1:100928212 GRCh38: Chr1:100462656	CDC14A	P147S, P205S	not provided	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 135221479.	NM_003672.4(CDC14A):c.632C>G (p.Ala211Gly) GRCh37: Chr1:100928231 GRCh38: Chr1:100462675	CDC14A	A153G, A211G	not provided	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 145188580.	NM_003672.4(CDC14A):c.694del (p.Tyr232fs) GRCh37: Chr1:100928291 GRCh38: Chr1:100462735	CDC14A	Y174fs, Y232fs	not provided	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 146375481.	NM_003672.4(CDC14A):c.706C>T (p.Arg236Cys) GRCh37: Chr1:100928305 GRCh38: Chr1:100462749	CDC14A	R178C, R236C	not provided	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 120828582.	NM_003672.4(CDC14A):c.717C>T (p.Asp239=) GRCh37: Chr1:100928316 GRCh38: Chr1:100462760	CDC14A		not provided	Benign/Likely benign (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155358383.	NM_003672.4(CDC14A):c.748A>G (p.Ile250Val) GRCh37: Chr1:100928347 GRCh38: Chr1:100462791	CDC14A	I192V, I250V	not provided	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 122094484.	NM_003672.4(CDC14A):c.778G>A (p.Val260Met) GRCh37: Chr1:100928377 GRCh38: Chr1:100462821	CDC14A	V202M, V260M	not provided	Benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121428785.	NM_003672.4(CDC14A):c.780G>A (p.Val260=) GRCh37: Chr1:100928379 GRCh38: Chr1:100462823	CDC14A		not provided	Likely benign (Sep 10, 2018)	criteria provided, single submitter
Select item 250722886.	NM_003672.4(CDC14A):c.781C>T (p.Arg261Ter) GRCh37: Chr1:100928380 GRCh38: Chr1:100462824	CDC14A	R203, R261	not provided	Pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 225588287.	NM_003672.4(CDC14A):c.782G>A (p.Arg261Gln) GRCh37: Chr1:100928381 GRCh38: Chr1:100462825	CDC14A	R203Q, R261Q	Inborn genetic diseases	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 219600788.	NM_003672.4(CDC14A):c.798C>T (p.Ile266=) GRCh37: Chr1:100928397 GRCh38: Chr1:100462841	CDC14A		not provided	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 205347489.	NM_003672.4(CDC14A):c.810C>T (p.Thr270=) GRCh37: Chr1:100928409 GRCh38: Chr1:100462853	CDC14A		not provided	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 218273890.	NM_003672.4(CDC14A):c.811G>A (p.Glu271Lys) GRCh37: Chr1:100928410 GRCh38: Chr1:100462854	CDC14A	E213K, E271K	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 50857191.	NM_003672.4(CDC14A):c.819C>G (p.Ala273=) GRCh37: Chr1:100928418 GRCh38: Chr1:100462862	CDC14A		not specified, not provided	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 92995092.	NM_003672.4(CDC14A):c.822C>T (p.Ile274=) GRCh37: Chr1:100928421 GRCh38: Chr1:100462865	CDC14A		not specified, not provided	Benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51753393.	NM_003672.4(CDC14A):c.825C>T (p.Ala275=) GRCh37: Chr1:100928424 GRCh38: Chr1:100462868	CDC14A		not specified, not provided	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121880894.	NM_003672.4(CDC14A):c.838+75C>G GRCh37: Chr1:100928512 GRCh38: Chr1:100462956	CDC14A		not provided	Likely benign (Apr 7, 2019)	criteria provided, single submitter
Select item 129684595.	NM_003672.4(CDC14A):c.838+158C>T GRCh37: Chr1:100928595 GRCh38: Chr1:100463039	CDC14A		not provided	Benign (Nov 29, 2018)	criteria provided, single submitter
Select item 126890996.	NM_003672.4(CDC14A):c.838+269C>T GRCh37: Chr1:100928706 GRCh38: Chr1:100463150	CDC14A		not provided	Benign (Dec 23, 2018)	criteria provided, single submitter
Select item 119271297.	NM_003672.4(CDC14A):c.839-124T>C GRCh37: Chr1:100933388 GRCh38: Chr1:100467832	CDC14A		Autosomal recessive nonsyndromic hearing loss 32, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118655198.	NM_003672.4(CDC14A):c.839-108T>C GRCh37: Chr1:100933404 GRCh38: Chr1:100467848	CDC14A		not provided	Likely benign (Jul 17, 2019)	criteria provided, single submitter
Select item 55943899.	NM_003672.4(CDC14A):c.839-3C>G GRCh37: Chr1:100933509 GRCh38: Chr1:100467953	CDC14A		Autosomal recessive nonsyndromic hearing loss 32	Pathogenic (Aug 3, 2018)	no assertion criteria provided
Select item 1903287100.	NM_003672.4(CDC14A):c.848G>C (p.Gly283Ala) GRCh37: Chr1:100933521 GRCh38: Chr1:100467965	CDC14A	G283A, G225A	not provided	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter

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