53904[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1494071.	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 GRCh37: Chr10:224406-26628907 GRCh38: Chr10:90205-26339978	ACBD7, ACBD7-DCLRE1CP1, ADARB2, ADARB2-AS1, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8, AKR1E2, ANKRD16, ARHGAP21, ARL5B, ARMC3, ASB13, ATP5F1C, BEND7, BEND7-DT, BMI1, C10orf113, C10orf67, C10orf67-AS1, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, COMMD3, COMMD3-BMI1, CUBN, DCLRE1C, DHTKD1, DIP2C, DIP2C-AS1, DNAJC1, EBLN1, ECHDC3, ENKUR, FAM107B, FAM171A1, FBH1, FRMD4A, GAD2, GATA3, GATA3-AS1, GDI2, GPR158, GPR158-AS1, GTPBP4, HACD1, HSPA14, IDI1, IDI2, IDI2-AS1, IL15RA, IL2RA, ITGA8, ITIH2, ITIH5, KIAA1217, KIN, KLF6, LARP4B, LARP4B-DT, LASTR, LINC00200, LINC00700, LINC00701, LINC00702, LINC00703, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC00836, LINC01516, LINC02561, LINC02639, LINC02642, LINC02643, LINC02645, LINC02648, LINC02649, LINC02654, LINC02656, LINC02660, LINC02662, LINC02665, LINC02668, LINC02669, LINC02670, LINC02676, LINC02677, LINC02678, LINC03027, LINP1, LOC100130992, LOC101928051, LOC101928272, LOC101928453, LOC101928834, LOC101929073, LOC101930421, LOC105376350, LOC105376353, LOC105376360, LOC105376384, LOC105376387, LOC105376390, LOC105376398, LOC105376420, LOC106783505, LOC106783507, LOC106783576, LOC107275222, LOC107275223, LOC107275226, LOC107984195, LOC108348022, LOC108353817, LOC108353819, LOC108903148, LOC108903149, LOC110121355, LOC110121449, LOC110121467, LOC110121476, LOC111464994, LOC111501766, LOC111589206, LOC111589212, LOC111818965, LOC111832674, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC111946234, LOC111946236, LOC111946241, LOC111946242, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC116216105, LOC116216106, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366037, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, LOC121366046, LOC121366047, LOC121366048, LOC121811723, LOC121811724, LOC121811725, LOC121811726, LOC121811727, LOC121811728, LOC121811729, LOC124403897, LOC124403898, LOC124403899, LOC124403900, LOC124403901, LOC124403902, LOC124403903, LOC124403904, LOC124403905, LOC124403906, LOC124403907, LOC124403908, LOC124403909, LOC124403910, LOC124403911, LOC124403912, LOC124403913, LOC124403914, LOC124403915, LOC124403916, LOC124403917, LOC124403918, LOC124403919, LOC124403920, LOC124403921, LOC124403922, LOC124403923, LOC126860802, LOC126860803, LOC126860804, LOC126860805, LOC126860806, LOC126860807, LOC126860808, LOC126860809, LOC126860810, LOC126860811, LOC126860812, LOC126860813, LOC126860814, LOC126860815, LOC126860816, LOC126860817, LOC126860818, LOC126860819, LOC126860820, LOC126860821, LOC126860822, LOC126860823, LOC126860824, LOC126860825, LOC126860826, LOC126860827, LOC126860828, LOC126860829, LOC126860830, LOC126860831, LOC126860832, LOC126860833, LOC126860834, LOC126860835, LOC126860836, LOC126860837, LOC126860838, LOC126860839, LOC126860840, LOC126860841, LOC126860842, LOC126860843, LOC126860844, LOC126860845, LOC126860846, LOC126860847, LOC126860848, LOC126860849, LOC126860850, LOC126860851, LOC126860852, LOC126860853, LOC126860854, LOC126860855, LOC126860856, LOC126860857, LOC126860858, LOC126860859, LOC126860860, LOC126860861, LOC126860862, LOC126860863, LOC126860864, LOC126860865, LOC126860866, LOC126860867, LOC126860868, LOC126860869, LOC126860870, LOC126860871, LOC126860872, LOC126860873, LOC126860874, LOC126860875, LOC126860876, LOC126860877, LOC126860878, LOC126860879, LOC126860880, LOC126860881, LOC126860882, LOC126860883, LOC126860884, LOC126860885, LOC126860886, LOC126860887, LOC126860888, LOC126860889, LOC128462383, LOC128462384, LOC128462385, LOC128462386, LOC128462408, LOC128854703, LOC128854704, MALRD1, MANCR, MCM10, MEIG1, MINDY3, MIR1265, MIR1915, MIR1915HG, MIR3155A, MIR3155B, MIR4293, MIR4480, MIR4481, MIR4675, MIR511, MIR548AK, MIR548Q, MIR5699, MIR603, MIR6072, MIR6078, MLLT10, MRC1, MSANTD7, MSRB2, MYO3A, NEBL, NEBL-AS1, NET1, NMT2, NSUN6, NUDT5, OLAH, OPTN, OTUD1, PFKFB3, PFKP, PFKP-DT, PHYH, PIP4K2A, PITRM1, PITRM1-AS1, PLXDC2, PRINS, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PRTFDC1, PTER, PTF1A, RBM17, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SLC39A12-AS1, SNORD129, SNORD142, SPAG6, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, SUV39H2-DT, TAF3, TASOR2, THNSL1, TMEM236, TRDMT1, TRN-GTT2-3, TRV-TAC3-1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WDR37, ZMYND11		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 1529982.	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 GRCh37: Chr10:4646926-47531169 GRCh38: Chr10:4604734-48074662	ABI1, ACBD5, ACBD7, ACBD7-DCLRE1CP1, AGAP10, AGAP4, AGAP9, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C8, AKR1E2, ALOX5, ANKRD16, ANKRD26, ANKRD30A, ANTXRL, ANXA8, ANXA8L1, APBB1IP, ARHGAP12, ARHGAP21, ARL5B, ARMC3, ASB13, ATP5F1C, BAMBI, BEND7, BEND7-DT, BMI1, BMS1, C10orf113, C10orf126, C10orf67, C10orf67-AS1, C1QL3, CACNB2, CALML3, CALML3-AS1, CALML5, CAMK1D, CCDC3, CCDC7, CCNY, CDC123, CDNF, CELF2, CELF2-AS1, CELF2-AS2, CELF2-DT, COMMD3, COMMD3-BMI1, CREM, CSGALNACT2, CSGALNACT2-DT, CUBN, CUL2, CXCL12, DCLRE1C, DEPP1, DHTKD1, DNAJC1, EBLN1, ECHDC3, ENKUR, EPC1, EPC1-AS1, FAM107B, FAM171A1, FAM238A, FAM238B, FAM238C, FAM245B, FAM25C, FAM25E, FAM25G, FBH1, FRMD4A, FXYD4, FZD8, GAD2, GATA3, GATA3-AS1, GDF10, GDF2, GDI2, GJD4, GPR158, GPR158-AS1, GPRIN2, HACD1, HNRNPF, HSPA14, IATPR, IL15RA, IL2RA, ITGA8, ITGB1, ITGB1-DT, ITIH2, ITIH5, JCAD, KIAA1217, KIF5B, KIN, LASTR, LINC00619, LINC00705, LINC00706, LINC00707, LINC00708, LINC00709, LINC00710, LINC00836, LINC00837, LINC00838, LINC00839, LINC00840, LINC00841, LINC00842, LINC00993, LINC00999, LINC01264, LINC01516, LINC01517, LINC01518, LINC02561, LINC02623, LINC02628, LINC02629, LINC02630, LINC02632, LINC02634, LINC02637, LINC02642, LINC02643, LINC02644, LINC02648, LINC02649, LINC02652, LINC02654, LINC02656, LINC02658, LINC02659, LINC02664, LINC02665, LINC02670, LINC02673, LINC02676, LINC02677, LINC02678, LINC02881, LINC02916, LINC03027, LINC03028, LINC03029, LINP1, LOC100130992, LOC100505502, LOC101928051, LOC101928272, LOC101928453, LOC101928834, LOC101929073, LOC101929279, LOC101929431, LOC102724323, LOC102724593, LOC105376384, LOC105376387, LOC105376390, LOC105376398, LOC105376420, LOC105378269, LOC105378289, LOC105378577, LOC106736614, LOC106783505, LOC106783576, LOC107001062, LOC107275222, LOC107275223, LOC107275226, LOC108004524, LOC108353817, LOC108353819, LOC108903148, LOC108903149, LOC110121348, LOC110121355, LOC110121399, LOC110121405, LOC110121406, LOC110121476, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111464994, LOC111501766, LOC111589212, LOC111818964, LOC111818965, LOC111818966, LOC111818967, LOC111946222, LOC111946223, LOC111946224, LOC111946225, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC111946232, LOC111946234, LOC111946236, LOC111946237, LOC111946238, LOC111946239, LOC111946241, LOC111946242, LOC111946244, LOC111946245, LOC111946246, LOC111946251, LOC111946252, LOC114827857, LOC116216107, LOC116216108, LOC116216109, LOC116216110, LOC116216111, LOC116216112, LOC121366038, LOC121366039, LOC121366040, LOC121366041, LOC121366042, LOC121366043, LOC121366044, LOC121366045, LOC121366046, LOC121366047, LOC121366048, LOC121366049, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC121811723, LOC121811724, LOC121811725, LOC121811726, LOC121811727, LOC121811728, LOC121811729, LOC121811730, LOC124403905, LOC124403906, LOC124403907, LOC124403908, LOC124403909, LOC124403910, LOC124403911, LOC124403912, LOC124403913, LOC124403914, LOC124403915, LOC124403916, LOC124403917, LOC124403918, LOC124403919, LOC124403920, LOC124403921, LOC124403922, LOC124403923, LOC124403924, LOC124403925, LOC124403926, LOC124403927, LOC124403928, LOC124403929, LOC124403930, LOC124403931, LOC124403932, LOC124403933, LOC124403934, LOC124403935, LOC124403936, LOC124403937, LOC124403938, LOC124403939, LOC124403940, LOC124403941, LOC124403942, LOC124403943, LOC124403944, LOC124403945, LOC124403946, LOC124403948, LOC124403949, LOC126860845, LOC126860846, LOC126860847, LOC126860848, LOC126860849, LOC126860850, LOC126860851, LOC126860852, LOC126860853, LOC126860854, LOC126860855, LOC126860856, LOC126860857, LOC126860858, LOC126860859, LOC126860860, LOC126860861, LOC126860862, LOC126860863, LOC126860864, LOC126860865, LOC126860866, LOC126860867, LOC126860868, LOC126860869, LOC126860870, LOC126860871, LOC126860872, LOC126860873, LOC126860874, LOC126860875, LOC126860876, LOC126860877, LOC126860878, LOC126860879, LOC126860880, LOC126860881, LOC126860882, LOC126860883, LOC126860884, LOC126860885, LOC126860886, LOC126860887, LOC126860888, LOC126860889, LOC126860890, LOC126860891, LOC126860892, LOC126860893, LOC126860894, LOC126860895, LOC126860896, LOC126860897, LOC126860898, LOC126860899, LOC126860900, LOC126860901, LOC126860902, LOC126860903, LOC126860904, LOC126860905, LOC126860906, LOC126860907, LOC126860908, LOC126860909, LOC126860910, LOC126860911, LOC126860912, LOC126860913, LOC126860914, LOC126860915, LOC126860916, LOC126860917, LOC126860918, LOC126860919, LOC126860920, LOC126860921, LOC126860922, LOC126860923, LOC126860924, LOC126860925, LOC126860926, LOC126860927, LOC126860928, LOC126860929, LOC128462383, LOC128462384, LOC128462385, LOC128462386, LOC128462408, LOC283028, LYZL1, LYZL2, MACORIS, MALRD1, MANCR, MAP3K8, MARCHF8, MASTL, MCM10, MCS+9.7, MEIG1, MINDY3, MIR1265, MIR1915, MIR1915HG, MIR3155A, MIR3155B, MIR3156-1, MIR3611, MIR4293, MIR4480, MIR4481, MIR4675, MIR4683, MIR5100, MIR511, MIR548AK, MIR548Q, MIR603, MIR604, MIR7162, MIR8086, MIR938, MKX, MKX-AS1, MLLT10, MPP7, MRC1, MSANTD7, MSMB, MSRB2, MTPAP, MTRNR2L7, MYO3A, NCOA4, NEBL, NEBL-AS1, NET1, NMT2, NPY4R, NPY4R2, NRP1, NSUN6, NUDT5, ODAD2, OLAH, OPTN, OR13A1, OTUD1, PARD3, PARD3-DT, PCAT5, PDSS1, PFKFB3, PHYH, PIP4K2A, PLXDC2, PRINS, PRKCQ, PRKCQ-AS1, PROSER2, PROSER2-AS1, PRPF18, PRTFDC1, PTCHD3, PTER, PTF1A, PTPN20, RAB18, RASGEF1A, RASSF4, RBM17, RBP3, RET, RPP38, RPP38-DT, RSU1, SEC61A2, SEPHS1, SFMBT2, SKIDA1, SLC39A12, SLC39A12-AS1, SNORA74C-1, SNORA86, SNORD129, SNORD130, SNORD3J, SPAG6, ST8SIA6, ST8SIA6-AS1, STAM, STAM-DT, SUV39H2, SUV39H2-DT, SVIL, SVIL-AS1, SYT15, SYT15-AS1, SYT15B, TAF3, TASOR2, THNSL1, TIMM23, TMEM236, TMEM72, TMEM72-AS1, TRDMT1, TRN-GTT2-3, TRV-TAC3-1, TUBAL3, UCMA, UCN3, UPF2, USP6NL, USP6NL-AS1, VIM, VIM-AS1, WAC, WAC-AS1, WASHC2C, YME1L1, ZEB1, ZEB1-AS1, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF33A, ZNF33B, ZNF37A, ZNF438, ZNF485, ZNF487, ZNF488		See cases	Benign (Feb 4, 2013)	no assertion criteria provided
Select item 1506003.	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 GRCh37: Chr10:19377090-33021221 GRCh38: Chr10:19088161-32732293	ABI1, ACBD5, ANKRD26, APBB1IP, ARHGAP12, ARHGAP21, ARMC3, BAMBI, BMI1, C10orf113, C10orf126, C10orf67, C10orf67-AS1, CCDC7, COMMD3, COMMD3-BMI1, DNAJC1, EBLN1, ENKUR, EPC1, EPC1-AS1, FAM238A, FAM238B, FAM238C, GAD2, GPR158, GPR158-AS1, JCAD, KIAA1217, KIF5B, LINC00836, LINC00837, LINC01516, LINC01517, LINC01552, LINC02643, LINC02644, LINC02652, LINC02664, LINC02673, LINC03027, LINC03028, LOC100130992, LOC100505502, LOC101928834, LOC101929073, LOC101929279, LOC101929431, LOC106783576, LOC108004524, LOC108353817, LOC110121476, LOC111464994, LOC111818964, LOC111946226, LOC111946227, LOC111946228, LOC111946229, LOC111946230, LOC111946231, LOC121366046, LOC121366047, LOC121366048, LOC121366049, LOC121811729, LOC124403918, LOC124403919, LOC124403920, LOC124403921, LOC124403922, LOC124403923, LOC124403924, LOC124403925, LOC124403926, LOC124403927, LOC124403928, LOC124403929, LOC124403930, LOC124403931, LOC124403932, LOC126860875, LOC126860876, LOC126860877, LOC126860878, LOC126860879, LOC126860880, LOC126860881, LOC126860882, LOC126860883, LOC126860884, LOC126860885, LOC126860886, LOC126860887, LOC126860888, LOC126860889, LOC126860890, LOC126860891, LOC126860892, LOC126860893, LOC126860894, LOC126860895, LOC126860896, LOC126860897, LOC126860898, LOC126860899, LOC126860900, LOC126860901, LOC126860902, LOC126860903, LOC126860904, LOC126860905, LOC126860906, LOC126860907, LOC126860908, LYZL1, LYZL2, MACORIS, MALRD1, MAP3K8, MASTL, MIR1254-2, MIR1915, MIR1915HG, MIR4675, MIR603, MIR604, MIR7162, MIR8086, MIR938, MKX, MKX-AS1, MLLT10, MPP7, MSRB2, MTPAP, MYO3A, NEBL, NEBL-AS1, ODAD2, OTUD1, PDSS1, PIP4K2A, PLXDC2, PRINS, PRTFDC1, PTCHD3, PTF1A, RAB18, SKIDA1, SNORD130, SPAG6, SVIL, SVIL-AS1, THNSL1, TRN-GTT2-3, WAC, WAC-AS1, YME1L1, ZEB1, ZEB1-AS1, ZNF438		See cases	Likely pathogenic (Aug 14, 2012)	no assertion criteria provided
Select item 596664.	GRCh38/hg38 10p12.1(chr10:25484473-26963308)x3 GRCh37: Chr10:25773402-27252237 GRCh38: Chr10:25484473-26963308	ABI1, ANKRD26, APBB1IP, FAM238A, FAM238B, FAM238C, GAD2, GPR158, LINC00836, LINC03028, LOC101929073, LOC121366048, LOC126860888, LOC126860889, MYO3A, PDSS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 2996355.	NM_017433.4(MYO3A):c.-312G>A GRCh37: Chr10:26223050 GRCh38: Chr10:25934121	MYO3A		Nonsyndromic Hearing Loss, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 2996366.	NM_017433.4(MYO3A):c.-302G>C GRCh37: Chr10:26223060 GRCh38: Chr10:25934131	MYO3A		Nonsyndromic Hearing Loss, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 2996377.	NM_017433.4(MYO3A):c.-215A>G GRCh37: Chr10:26223147 GRCh38: Chr10:25934218	MYO3A		Nonsyndromic Hearing Loss, Recessive	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 2996388.	NM_017433.5(MYO3A):c.-189C>G GRCh37: Chr10:26223173 GRCh38: Chr10:25934244	MYO3A		Autosomal recessive nonsyndromic hearing loss 30	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 8797089.	NM_017433.5(MYO3A):c.-146G>A GRCh37: Chr10:26223216 GRCh38: Chr10:25934287	MYO3A		Autosomal recessive nonsyndromic hearing loss 30	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29963910.	NM_017433.5(MYO3A):c.-132A>G GRCh37: Chr10:26223230 GRCh38: Chr10:25934301	MYO3A		Autosomal recessive nonsyndromic hearing loss 30	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87970911.	NM_017433.5(MYO3A):c.-109C>T GRCh37: Chr10:26223253 GRCh38: Chr10:25934324	MYO3A		Autosomal recessive nonsyndromic hearing loss 30	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29964012.	NM_017433.5(MYO3A):c.-104-14del GRCh37: Chr10:26224659 GRCh38: Chr10:25935730	MYO3A		Nonsyndromic Hearing Loss, Recessive	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29964113.	NM_017433.5(MYO3A):c.-50A>G GRCh37: Chr10:26224727 GRCh38: Chr10:25935798	MYO3A		Autosomal recessive nonsyndromic hearing loss 30	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29964214.	NM_017433.5(MYO3A):c.-37A>G GRCh37: Chr10:26224740 GRCh38: Chr10:25935811	MYO3A		Autosomal recessive nonsyndromic hearing loss 30	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87776615.	NM_017433.5(MYO3A):c.-30A>G GRCh37: Chr10:26224747 GRCh38: Chr10:25935818	MYO3A		Autosomal recessive nonsyndromic hearing loss 30	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29964316.	NM_017433.5(MYO3A):c.-18G>A GRCh37: Chr10:26224759 GRCh38: Chr10:25935830	MYO3A		Autosomal recessive nonsyndromic hearing loss 30	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 68272217.	NM_017433.5(MYO3A):c.-17-79C>T GRCh37: Chr10:26240944 GRCh38: Chr10:25952015	MYO3A		not provided	Likely benign (Jun 16, 2018)	criteria provided, single submitter
Select item 4579118.	NM_017433.5(MYO3A):c.-15T>A GRCh37: Chr10:26241025 GRCh38: Chr10:25952096	MYO3A		not specified, Autosomal recessive nonsyndromic hearing loss 30	Benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 17898919.	NM_017433.5(MYO3A):c.1A>G (p.Met1Val) GRCh37: Chr10:26241040 GRCh38: Chr10:25952111	MYO3A	M1V	not specified	Uncertain significance (Jun 18, 2013)	criteria provided, single submitter
Select item 130234520.	NM_017433.5(MYO3A):c.35A>T (p.Asp12Val) GRCh37: Chr10:26241074 GRCh38: Chr10:25952145	MYO3A	D12V	not provided	Uncertain significance (Jun 29, 2020)	criteria provided, single submitter
Select item 187881621.	NM_017433.5(MYO3A):c.76_77delinsTA (p.Thr26Ter) GRCh37: Chr10:26241115-26241116 GRCh38: Chr10:25952186-25952187	MYO3A	T26*	not provided	Pathogenic/Likely pathogenic (Jan 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 130746422.	NM_017433.5(MYO3A):c.83G>A (p.Gly28Asp) GRCh37: Chr10:26241122 GRCh38: Chr10:25952193	MYO3A	G28D	not provided	Uncertain significance (Sep 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 258067023.	NM_017433.5(MYO3A):c.103G>A (p.Val35Ile) GRCh37: Chr10:26241142 GRCh38: Chr10:25952213	MYO3A	V35I	not provided	Uncertain significance (Mar 21, 2023)	criteria provided, single submitter
Select item 257586724.	NM_017433.5(MYO3A):c.112G>T (p.Val38Leu) GRCh37: Chr10:26241151 GRCh38: Chr10:25952222	MYO3A	V38L	not provided	Uncertain significance (Feb 14, 2023)	criteria provided, single submitter
Select item 119964425.	NM_017433.5(MYO3A):c.113T>C (p.Val38Ala) GRCh37: Chr10:26241152 GRCh38: Chr10:25952223	MYO3A	V38A	Autosomal recessive nonsyndromic hearing loss 30, not provided	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29964426.	NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn) GRCh37: Chr10:26241191 GRCh38: Chr10:25952262	MYO3A	I51N	Inborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 30, Hearing impairment	Uncertain significance (Aug 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 61874827.	NM_017433.5(MYO3A):c.154C>G (p.Leu52Val) GRCh37: Chr10:26241193 GRCh38: Chr10:25952264	MYO3A	L52V	not provided	Uncertain significance (Jan 10, 2018)	criteria provided, single submitter
Select item 22897728.	NM_017433.5(MYO3A):c.168C>T (p.His56=) GRCh37: Chr10:26241207 GRCh38: Chr10:25952278	MYO3A		not specified	Uncertain significance (May 12, 2015)	criteria provided, single submitter
Select item 257284329.	NM_017433.5(MYO3A):c.168+1G>T GRCh37: Chr10:26241208 GRCh38: Chr10:25952279	MYO3A		not provided	Likely pathogenic (Jan 12, 2023)	criteria provided, single submitter
Select item 244656430.	NM_017433.5(MYO3A):c.168+1G>A GRCh37: Chr10:26241208 GRCh38: Chr10:25952279	MYO3A		not provided	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 112013031.	NM_017433.5(MYO3A):c.168+3_168+4del GRCh37: Chr10:26241210-26241211 GRCh38: Chr10:25952281-25952282	MYO3A		not specified	Uncertain significance (Aug 14, 2020)	criteria provided, single submitter
Select item 122485832.	NM_017433.5(MYO3A):c.168+249G>A GRCh37: Chr10:26241456 GRCh38: Chr10:25952527	MYO3A		not provided	Benign (Nov 12, 2018)	criteria provided, single submitter
Select item 124469433.	NM_017433.5(MYO3A):c.169-200G>T GRCh37: Chr10:26243603 GRCh38: Chr10:25954674	MYO3A		not provided	Benign (Dec 21, 2018)	criteria provided, single submitter
Select item 129372034.	NM_017433.5(MYO3A):c.169-93A>C GRCh37: Chr10:26243710 GRCh38: Chr10:25954781	MYO3A		not provided	Benign (Jun 22, 2018)	criteria provided, single submitter
Select item 4580035.	NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) GRCh37: Chr10:26243804 GRCh38: Chr10:25954875	MYO3A	D57A	Inborn genetic diseases, not specified, not provided, Autosomal recessive nonsyndromic hearing loss 30, Hearing impairment	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 16460336.	NM_017433.5(MYO3A):c.177C>T (p.Asp59=) GRCh37: Chr10:26243811 GRCh38: Chr10:25954882	MYO3A		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 30	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 120122337.	NM_017433.5(MYO3A):c.202A>C (p.Ile68Leu) GRCh37: Chr10:26243836 GRCh38: Chr10:25954907	MYO3A	I68L	not provided	Uncertain significance (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170738738.	NM_017433.5(MYO3A):c.219T>G (p.Ser73=) GRCh37: Chr10:26243853 GRCh38: Chr10:25954924	MYO3A		not provided	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 171079539.	NM_017433.5(MYO3A):c.225C>A (p.His75Gln) GRCh37: Chr10:26243859 GRCh38: Chr10:25954930	MYO3A	H75Q	not provided	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 50619540.	NM_017433.5(MYO3A):c.230A>C (p.Asn77Thr) GRCh37: Chr10:26243864 GRCh38: Chr10:25954935	MYO3A	N77T	not specified, not provided	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87879541.	NM_017433.5(MYO3A):c.233T>G (p.Val78Gly) GRCh37: Chr10:26243867 GRCh38: Chr10:25954938	MYO3A	V78G	Autosomal recessive nonsyndromic hearing loss 30, Hearing impairment	Uncertain significance (Apr 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 217526242.	NM_017433.5(MYO3A):c.250A>T (p.Ile84Leu) GRCh37: Chr10:26243884 GRCh38: Chr10:25954955	MYO3A	I84L	not provided, Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206663243.	NM_017433.5(MYO3A):c.258T>C (p.Phe86=) GRCh37: Chr10:26243892 GRCh38: Chr10:25954963	MYO3A		not provided	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 220698244.	NM_017433.5(MYO3A):c.271G>T (p.Val91Leu) GRCh37: Chr10:26243905 GRCh38: Chr10:25954976	MYO3A	V91L	Inborn genetic diseases	Uncertain significance (Dec 15, 2022)	criteria provided, single submitter
Select item 134717945.	NM_017433.5(MYO3A):c.275A>G (p.Asn92Ser) GRCh37: Chr10:26243909 GRCh38: Chr10:25954980	MYO3A	N92S	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 66727746.	NM_017433.5(MYO3A):c.285G>T (p.Lys95Asn) GRCh37: Chr10:26243919 GRCh38: Chr10:25954990	MYO3A	K95N	not specified	Uncertain significance (Jan 4, 2019)	criteria provided, single submitter
Select item 22766447.	NM_017433.5(MYO3A):c.288G>A (p.Leu96=) GRCh37: Chr10:26243922 GRCh38: Chr10:25954993	MYO3A		not specified	Likely benign (Nov 16, 2015)	criteria provided, single submitter
Select item 257477048.	NM_017433.5(MYO3A):c.303+3_303+6del GRCh37: Chr10:26243938-26243941 GRCh38: Chr10:25955009-25955012	MYO3A		not provided	Uncertain significance (Feb 7, 2023)	criteria provided, single submitter
Select item 164412549.	NM_017433.5(MYO3A):c.303+13G>C GRCh37: Chr10:26243950 GRCh38: Chr10:25955021	MYO3A		not provided	Likely benign (Nov 6, 2021)	criteria provided, single submitter
Select item 127945250.	NM_017433.5(MYO3A):c.303+152T>A GRCh37: Chr10:26244089 GRCh38: Chr10:25955160	MYO3A		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 117433951.	NM_017433.5(MYO3A):c.303+159G>T GRCh37: Chr10:26244096 GRCh38: Chr10:25955167	MYO3A		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 124664652.	NM_017433.5(MYO3A):c.303+209A>G GRCh37: Chr10:26244146 GRCh38: Chr10:25955217	MYO3A		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 128781053.	NM_017433.5(MYO3A):c.303+287T>A GRCh37: Chr10:26244224 GRCh38: Chr10:25955295	MYO3A		not provided	Benign (Jan 13, 2019)	criteria provided, single submitter
Select item 128902854.	NM_017433.5(MYO3A):c.304-319G>A GRCh37: Chr10:26285100 GRCh38: Chr10:25996171	MYO3A		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 121139655.	NM_017433.5(MYO3A):c.304-287C>T GRCh37: Chr10:26285132 GRCh38: Chr10:25996203	MYO3A		not provided	Likely benign (Jan 2, 2019)	criteria provided, single submitter
Select item 126062356.	NM_017433.5(MYO3A):c.304-283T>C GRCh37: Chr10:26285136 GRCh38: Chr10:25996207	MYO3A		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 127074557.	NM_017433.5(MYO3A):c.304-171A>G GRCh37: Chr10:26285248 GRCh38: Chr10:25996319	MYO3A		not provided	Benign (Dec 17, 2018)	criteria provided, single submitter
Select item 123209158.	NM_017433.5(MYO3A):c.304-132A>C GRCh37: Chr10:26285287 GRCh38: Chr10:25996358	MYO3A		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 141755659.	NM_017433.5(MYO3A):c.304-11T>G GRCh37: Chr10:26285408 GRCh38: Chr10:25996479	MYO3A		not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 255088460.	NM_017433.5(MYO3A):c.311G>T (p.Ser104Ile) GRCh37: Chr10:26285426 GRCh38: Chr10:25996497	MYO3A	S104I	Inborn genetic diseases	Uncertain significance (May 24, 2023)	criteria provided, single submitter
Select item 43995861.	NM_017433.5(MYO3A):c.315del (p.Gly106fs) GRCh37: Chr10:26285430 GRCh38: Chr10:25996501	MYO3A	G106fs	not provided, not specified	Conflicting interpretations of pathogenicity (Feb 21, 2022)	criteria provided, conflicting interpretations
Select item 29964562.	NM_017433.5(MYO3A):c.332T>C (p.Leu111Pro) GRCh37: Chr10:26285447 GRCh38: Chr10:25996518	MYO3A	L111P	Autosomal recessive nonsyndromic hearing loss 30	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 61874563.	NM_017433.5(MYO3A):c.374C>T (p.Pro125Leu) GRCh37: Chr10:26285489 GRCh38: Chr10:25996560	MYO3A	P125L	not provided	Uncertain significance (Sep 22, 2017)	criteria provided, single submitter
Select item 118227764.	NM_017433.5(MYO3A):c.409-248T>G GRCh37: Chr10:26285840 GRCh38: Chr10:25996911	MYO3A		not provided	Likely benign (Dec 22, 2018)	criteria provided, single submitter
Select item 120189165.	NM_017433.5(MYO3A):c.409-242T>C GRCh37: Chr10:26285846 GRCh38: Chr10:25996917	MYO3A		not provided	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 16460466.	NM_017433.5(MYO3A):c.409-21TA[2] GRCh37: Chr10:26286067-26286068 GRCh38: Chr10:25997138-25997139	MYO3A		not specified, not provided	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164293467.	NM_017433.5(MYO3A):c.409-18A>G GRCh37: Chr10:26286070 GRCh38: Chr10:25997141	MYO3A		not provided	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 66839568.	NM_017433.5(MYO3A):c.409-9_409-5del GRCh37: Chr10:26286075-26286079 GRCh38: Chr10:25997146-25997150	MYO3A		not provided	Likely benign (Jun 4, 2018)	criteria provided, single submitter
Select item 210367569.	NM_017433.5(MYO3A):c.409-6T>C GRCh37: Chr10:26286082 GRCh38: Chr10:25997153	MYO3A		not provided	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 50463970.	NM_017433.5(MYO3A):c.424C>T (p.His142Tyr) GRCh37: Chr10:26286103 GRCh38: Chr10:25997174	MYO3A	H142Y	not specified, not provided	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 112789771.	NM_017433.5(MYO3A):c.426T>G (p.His142Gln) GRCh37: Chr10:26286105 GRCh38: Chr10:25997176	MYO3A	H142Q	not provided, Autosomal recessive nonsyndromic hearing loss 30	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 130445672.	NM_017433.5(MYO3A):c.457G>A (p.Gly153Ser) GRCh37: Chr10:26286136 GRCh38: Chr10:25997207	MYO3A	G153S	not provided	Uncertain significance (Jan 21, 2019)	criteria provided, single submitter
Select item 50519973.	NM_017433.5(MYO3A):c.472T>C (p.Leu158=) GRCh37: Chr10:26286151 GRCh38: Chr10:25997222	MYO3A		not specified, not provided	Likely benign (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141690474.	NM_017433.5(MYO3A):c.479C>T (p.Thr160Met) GRCh37: Chr10:26286158 GRCh38: Chr10:25997229	MYO3A	T160M	not provided	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 4581775.	NM_017433.5(MYO3A):c.480G>T (p.Thr160=) GRCh37: Chr10:26286159 GRCh38: Chr10:25997230	MYO3A		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 30	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241025876.	NM_017433.5(MYO3A):c.487G>A (p.Gly163Arg) GRCh37: Chr10:26286166 GRCh38: Chr10:25997237	MYO3A	G163R	Inborn genetic diseases	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 203112877.	NM_017433.5(MYO3A):c.508+2T>C GRCh37: Chr10:26286189 GRCh38: Chr10:25997260	MYO3A		not provided	Likely pathogenic (Oct 27, 2022)	criteria provided, single submitter
Select item 208990478.	NM_017433.5(MYO3A):c.508+19G>A GRCh37: Chr10:26286206 GRCh38: Chr10:25997277	MYO3A		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 67870279.	NM_017433.5(MYO3A):c.508+36A>T GRCh37: Chr10:26286223 GRCh38: Chr10:25997294	MYO3A		not provided	Likely benign (Jun 16, 2018)	criteria provided, single submitter
Select item 125075180.	NM_017433.5(MYO3A):c.508+180G>A GRCh37: Chr10:26286367 GRCh38: Chr10:25997438	MYO3A		not provided	Benign (Dec 21, 2018)	criteria provided, single submitter
Select item 123467581.	NM_017433.5(MYO3A):c.508+236C>T GRCh37: Chr10:26286423 GRCh38: Chr10:25997494	MYO3A		not provided	Benign (Jan 2, 2019)	criteria provided, single submitter
Select item 119431582.	NM_017433.5(MYO3A):c.508+237G>A GRCh37: Chr10:26286424 GRCh38: Chr10:25997495	MYO3A		not provided	Likely benign (May 1, 2019)	criteria provided, single submitter
Select item 120790983.	NM_017433.5(MYO3A):c.508+279G>A GRCh37: Chr10:26286466 GRCh38: Chr10:25997537	MYO3A		not provided	Likely benign (Aug 24, 2019)	criteria provided, single submitter
Select item 121940184.	NM_017433.5(MYO3A):c.508+283G>A GRCh37: Chr10:26286470 GRCh38: Chr10:25997541	MYO3A		not provided	Likely benign (Aug 24, 2019)	criteria provided, single submitter
Select item 122350085.	NM_017433.5(MYO3A):c.509-16T>C GRCh37: Chr10:26305733 GRCh38: Chr10:26016804	MYO3A		not provided	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87879686.	NM_017433.5(MYO3A):c.509-15T>C GRCh37: Chr10:26305734 GRCh38: Chr10:26016805	MYO3A		Autosomal recessive nonsyndromic hearing loss 30	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 131523087.	NM_017433.5(MYO3A):c.531T>G (p.Ser177Arg) GRCh37: Chr10:26305771 GRCh38: Chr10:26016842	MYO3A	S177R	not provided	Uncertain significance (Feb 4, 2020)	criteria provided, single submitter
Select item 4581988.	NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) GRCh37: Chr10:26305773 GRCh38: Chr10:26016844	MYO3A	T178I	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 30	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136056689.	NM_017433.5(MYO3A):c.535C>T (p.Arg179Trp) GRCh37: Chr10:26305775 GRCh38: Chr10:26016846	MYO3A	R179W	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Nov 22, 2022)	criteria provided, conflicting interpretations
Select item 51730790.	NM_017433.5(MYO3A):c.542G>A (p.Arg181His) GRCh37: Chr10:26305782 GRCh38: Chr10:26016853	MYO3A	R181H	not specified	Likely benign (Mar 29, 2017)	criteria provided, single submitter
Select item 17846091.	NM_017433.5(MYO3A):c.546G>T (p.Arg182=) GRCh37: Chr10:26305786 GRCh38: Chr10:26016857	MYO3A		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 30	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 63163192.	NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer) GRCh37: Chr10:26305794 GRCh38: Chr10:26016865	MYO3A		not provided, Autosomal recessive nonsyndromic hearing loss 30	Conflicting interpretations of pathogenicity (Jan 9, 2023)	criteria provided, conflicting interpretations
Select item 192657693.	NM_017433.5(MYO3A):c.567G>A (p.Pro189=) GRCh37: Chr10:26305807 GRCh38: Chr10:26016878	MYO3A		not provided	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 17915394.	NM_017433.5(MYO3A):c.568T>C (p.Phe190Leu) GRCh37: Chr10:26305808 GRCh38: Chr10:26016879	MYO3A	F190L	not specified	Uncertain significance (Apr 11, 2018)	criteria provided, single submitter
Select item 22898695.	NM_017433.5(MYO3A):c.585+3C>T GRCh37: Chr10:26305828 GRCh38: Chr10:26016899	MYO3A		not specified, not provided	Uncertain significance (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17846196.	NM_017433.5(MYO3A):c.585+4A>T GRCh37: Chr10:26305829 GRCh38: Chr10:26016900	MYO3A		not specified, not provided	Conflicting interpretations of pathogenicity (Sep 6, 2023)	criteria provided, conflicting interpretations
Select item 204872597.	NM_017433.5(MYO3A):c.585+10A>T GRCh37: Chr10:26305835 GRCh38: Chr10:26016906	MYO3A		not provided	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 121126598.	NM_017433.5(MYO3A):c.586-258C>T GRCh37: Chr10:26310174 GRCh38: Chr10:26021245	MYO3A		not provided	Likely benign (Apr 12, 2019)	criteria provided, single submitter
Select item 124147999.	NM_017433.5(MYO3A):c.586-223C>T GRCh37: Chr10:26310209 GRCh38: Chr10:26021280	MYO3A		not provided	Benign (Dec 17, 2018)	criteria provided, single submitter
Select item 1231013100.	NM_017433.5(MYO3A):c.586-29C>T GRCh37: Chr10:26310403 GRCh38: Chr10:26021474	MYO3A		Autosomal recessive nonsyndromic hearing loss 30, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts

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