71[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 587031.	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 GRCh37: Chr17:67205220-81044553 GRCh38: Chr17:69209079-83086677	AANAT, AATK, ABCA10, ABCA5, ACOX1, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ARMC7, ASPSCR1, ATP5PD, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, BTBD17, C17orf80, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CASC17, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD7, CDC42EP4, CDK3, CDR2L, CENPX, CEP131, CEP295NL, CHMP6, COG1, CPSF4L, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DNAI2, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FADS6, FAM104A, FASN, FBF1, FDXR, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA, GALK1, GALR2, GCGR, GGA3, GPR142, GPRC5C, GPS1, GRB2, GRIN2C, H3-3B, HEXD, HEXD-IT1, HGS, HID1, HID1-AS1, ITGB4, JMJD6, JPT1, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF19, LGALS3BP, LINC00469, LINC00482, LINC00511, LINC00673, LINC00868, LINC01028, LINC01152, LINC01483, LINC01497, LINC01970, LINC01971, LINC01973, LINC01977, LINC01978, LINC01979, LINC01987, LINC01993, LINC02003, LINC02074, LINC02078, LINC02080, LINC02092, LINC02097, LINC03048, LLGL2, LOC100134391, LOC100507351, LOC101928251, LOC101928343, LOC101928855, LOC101929552, LOC102723517, LOC105274304, LOC105371880, LOC105371899, LOC105371910, LOC105371925, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108254686, LOC108254691, LOC108281162, LOC108348028, LOC110121373, LOC110599586, LOC111413039, LOC111429614, LOC112268198, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC112533670, LOC112533671, LOC112533672, LOC112533673, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276479, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121627809, LOC121627810, LOC121627811, LOC121627812, LOC121627813, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852949, LOC121852950, LOC121852951, LOC121852952, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC122455342, LOC125316786, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC125316793, LOC125316794, LOC125316795, LOC125316796, LOC125316797, LOC125316798, LOC125316799, LOC125316800, LOC125316801, LOC125316802, LOC125316804, LOC125316805, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862624, LOC126862625, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC126862637, LOC126862638, LOC126862639, LOC126862640, LOC126862641, LOC126862642, LOC126862643, LOC126862644, LOC126862645, LOC126862646, LOC126862647, LOC126862648, LOC126862649, LOC126862650, LOC126862651, LOC126862652, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC400622, LOC400627, LRRC45, MAFG, MAP2K6, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MGC16275, MIF4GD, MIF4GD-DT, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR3615, MIR3678, MIR4316, MIR4525, MIR4730, MIR4738, MIR4739, MIR4740, MIR636, MIR6516, MIR657, MIR6785, MIR6786, MIR6787, MIR6868, MRPL12, MRPL38, MRPL58, MRPS7, MXRA7, MYADML2, MYO15B, NARF, NARF-AS2, NAT9, NDUFAF8, NHERF1, NOTUM, NPB, NPLOC4, NPTX1, NT5C, NUP85, OGFOD3, OTOP2, OTOP3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PRCD, PRO1804, PRPSAP1, PVALEF, PYCR1, QRICH2, RAB37, RAB40B, RAC3, RBFOX3, RECQL5, RFNG, RHBDF2, RNF157, RNF157-AS1, RNF213, RNF213-AS1, ROCR, RPL38, RPTOR, SAP30BP, SCARNA16, SCAT1, SDK2, SEC14L1, SECTM1, SEPTIN9, SEPTIN9-DT, SGSH, SIRT7, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC26A11, SLC38A10, SLC39A11, SLC9A3R1-AS1, SMIM5, SMIM6, SNHG16, SNHG20, SNORD134, SNORD1A, SNORD1B, SNORD1C, SOCS3, SOCS3-DT, SOX9, SOX9-AS1, SOX9CRE1, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TBC1D16, TBCD, TEN1, TEN1-CDK3, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM105, TMEM235, TMEM94, TNRC6C, TNRC6C-AS1, TRIM47, TRIM65, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRX-CAT1-8, TSEN54, TSPAN10, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, UTS2R, WBP2, WDR45B, ZACN, ZNF750		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1552752.	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 GRCh37: Chr17:67912576-81048189 GRCh38: Chr17:69916435-83102552	GALK1, GALR2, GCGR, GGA3, GPR142, GPRC5C, GPS1, GRB2, GRIN2C, H3-3B, HEXD, HEXD-IT1, HGS, HID1, HID1-AS1, ITGB4, JMJD6, JPT1, KCNJ16, KCNJ2, KCNJ2-AS1, KCTD2, KIF19, LGALS3BP, LINC00469, LINC00482, LINC00511, LINC00673, LINC00868, LINC01028, LINC01152, LINC01497, LINC01970, LINC01971, LINC01973, LINC01977, LINC01978, LINC01979, LINC01987, LINC01993, LINC02003, LINC02074, LINC02078, LINC02080, LINC02092, LINC02097, LINC03048, LLGL2, LOC100134391, LOC100507351, LOC101928251, LOC101928343, LOC101928855, LOC101929552, LOC102723517, LOC105274304, LOC105371899, LOC105371910, LOC105371925, LOC108004545, LOC108004546, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021839, LOC108021840, LOC108021842, LOC108021843, LOC108021844, LOC108021845, LOC108021846, LOC108254686, LOC108254691, LOC108281162, LOC108348028, LOC110121373, LOC110599586, LOC111413039, LOC111429614, LOC112268198, LOC112533666, LOC112533667, LOC112533668, LOC112533669, LOC112533670, LOC112533671, LOC112533672, LOC112533673, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276479, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121603772, LOC121603773, LOC121627807, LOC121627808, LOC121627809, LOC121627810, LOC121627811, LOC121627812, LOC121627813, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852949, LOC121852950, LOC121852951, LOC121852952, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC122455342, LOC125316787, LOC125316788, LOC125316789, LOC125316790, LOC125316791, LOC125316792, LOC125316793, LOC125316794, LOC125316795, LOC125316796, LOC125316797, LOC125316798, LOC125316799, LOC125316800, LOC125316801, LOC125316802, LOC125316804, LOC125316805, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862626, LOC126862627, LOC126862628, LOC126862629, LOC126862630, LOC126862631, LOC126862632, LOC126862633, LOC126862634, LOC126862635, LOC126862636, LOC126862637, LOC126862638, LOC126862639, LOC126862640, LOC126862641, LOC126862642, LOC126862643, LOC126862644, LOC126862645, LOC126862646, LOC126862647, LOC126862648, LOC126862649, LOC126862650, LOC126862651, LOC126862652, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC400622, LOC400627, LRRC45, MAFG, MCRIP1, METRNL, METTL23, MFSD11, MGAT5B, MGC16275, MIF4GD, MIF4GD-DT, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR3615, MIR3678, MIR4316, MIR4525, MIR4730, MIR4738, MIR4739, MIR4740, MIR636, MIR6516, MIR657, MIR6785, MIR6786, MIR6787, MIR6868, MRPL12, MRPL38, MRPL58, MRPS7, MXRA7, MYADML2, MYO15B, NARF, NARF-AS2, NAT9, NDUFAF8, NHERF1, NOTUM, NPB, NPLOC4, NPTX1, NT5C, NUP85, OGFOD3, OTOP2, OTOP3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PRCD, PRPSAP1, PVALEF, PYCR1, QRICH2, RAB37, RAB40B, RAC3, RBFOX3, RECQL5, RFNG, RHBDF2, RNF157, RNF157-AS1, RNF213, RNF213-AS1, ROCR, RPL38, RPTOR, SAP30BP, SCARNA16, SCAT1, SDK2, SEC14L1, SECTM1, SEPTIN9, SEPTIN9-DT, SGSH, SIRT7, SLC16A3, SLC16A5, SLC25A10, SLC25A19, SLC26A11, SLC38A10, SLC39A11, SLC9A3R1-AS1, SMIM5, SMIM6, SNHG16, SNHG20, SNORD134, SNORD1A, SNORD1B, SNORD1C, SOCS3, SOCS3-DT, SOX9, SOX9-AS1, SOX9CRE1, SPHK1, SRP68, SRSF2, SSTR2, ST6GALNAC1, ST6GALNAC2, SUMO2, SYNGR2, TBC1D16, TBCD, TEN1, TEN1-CDK3, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM104, TMEM105, TMEM235, TMEM94, TNRC6C, TNRC6C-AS1, TRIM47, TRIM65, TRR-CCT1-1, TRR-CCT2-1, TRR-TCG3-1, TRX-CAT1-8, TSEN54, TSPAN10, TTYH2, UBALD2, UBE2O, UNC13D, UNK, USH1G, USP36, UTS2R, WBP2, WDR45B, ZACN, ZNF750, AANAT, AATK, ACOX1, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ARMC7, ASPSCR1, ATP5PD, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, BTBD17, C17orf80, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CASC17, CASKIN2, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD300A, CD300C, CD300E, CD300H, CD300LB, CD300LD, CD300LD-AS1, CD300LF, CD7, CDC42EP4, CDK3, CDR2L, CENPX, CEP131, CEP295NL, CHMP6, COG1, CPSF4L, CSNK1D, CYBC1, CYGB, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DNAI2, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, EVPL, EXOC7, FAAP100, FADS6, FAM104A, FASN, FBF1, FDXR, FN3K, FN3KRP, FOXJ1, FOXK2, FSCN2, GAA		See cases	Pathogenic (Oct 23, 2012)	no assertion criteria provided
Select item 570763.	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 GRCh37: Chr17:76088317-81044553 GRCh38: Chr17:78092236-83086677	AATK, ACTG1, AFMID, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, BIRC5, C17orf99, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD7, CENPX, CEP131, CEP295NL, CHMP6, CSNK1D, CYBC1, CYTH1, DCXR, DCXR-DT, DNAH17, DNAH17-AS1, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GAA, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LGALS3BP, LINC00482, LINC01970, LINC01971, LINC01977, LINC01978, LINC01979, LINC01993, LINC02078, LINC03048, LOC101928855, LOC101929552, LOC105371910, LOC105371925, LOC108254691, LOC108281162, LOC108348028, LOC110599586, LOC112533674, LOC112533675, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276480, LOC116276481, LOC116276482, LOC116276483, LOC116276484, LOC116276485, LOC121627814, LOC121627815, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC125316806, LOC125316807, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862653, LOC126862654, LOC126862655, LOC126862656, LOC126862657, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC400627, LRRC45, MAFG, MCRIP1, METRNL, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR4525, MIR4730, MIR4739, MIR4740, MIR657, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NDUFAF8, NOTUM, NPB, NPLOC4, NPTX1, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PGS1, PPP1R27, PVALEF, PYCR1, RAB40B, RAC3, RBFOX3, RFNG, RNF213, RNF213-AS1, RPTOR, SCAT1, SECTM1, SGSH, SIRT7, SLC16A3, SLC25A10, SLC26A11, SLC38A10, SNORD134, SOCS3, SOCS3-DT, SYNGR2, TBC1D16, TBCD, TEPSIN, TEX19, TIMP2, TK1, TMC6, TMC8, TMEM105, TMEM235, TNRC6C, TNRC6C-AS1, TRX-CAT1-8, TSPAN10, USP36, UTS2R, WDR45B, ZNF750		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 572634.	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 GRCh37: Chr17:76898041-81044553 GRCh38: Chr17:78901959-83086677	AATK, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD7, CENPX, CEP131, CEP295NL, CHMP6, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GAA, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LGALS3BP, LINC00482, LINC01970, LINC01971, LINC01977, LINC01978, LINC01979, LINC02078, LINC03048, LOC101928855, LOC101929552, LOC105371925, LOC108254691, LOC108281162, LOC108348028, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276483, LOC116276484, LOC116276485, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC400627, LRRC45, MAFG, MCRIP1, METRNL, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR4525, MIR4730, MIR4739, MIR4740, MIR657, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NDUFAF8, NOTUM, NPB, NPLOC4, NPTX1, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PVALEF, PYCR1, RAB40B, RAC3, RBFOX3, RFNG, RNF213, RNF213-AS1, RPTOR, SECTM1, SGSH, SIRT7, SLC16A3, SLC25A10, SLC26A11, SLC38A10, SNORD134, TBC1D16, TBCD, TEPSIN, TEX19, TIMP2, TMEM105, TRX-CAT1-8, TSPAN10, UTS2R, WDR45B, ZNF750		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 587145.	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 GRCh37: Chr17:76914732-80978971 GRCh38: Chr17:78918650-83021095	SLC26A11, SLC38A10, SNORD134, TBC1D16, TBCD, TEPSIN, TEX19, TIMP2, TMEM105, TRX-CAT1-8, TSPAN10, UTS2R, WDR45B, ZNF750, AATK, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, C1QTNF1, C1QTNF1-AS1, CANT1, CARD14, CBX2, CBX4, CBX8, CCDC137, CCDC40, CCDC57, CD7, CENPX, CEP131, CHMP6, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, EIF4A3, ENDOV, ENGASE, ENPP7, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GAA, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LGALS3BP, LINC00482, LINC01970, LINC01971, LINC01977, LINC01978, LINC01979, LINC02078, LINC03048, LOC101928855, LOC101929552, LOC105371925, LOC108254691, LOC108281162, LOC108348028, LOC112533676, LOC112533677, LOC112533678, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276483, LOC116276484, LOC116276485, LOC121627816, LOC121627817, LOC121627818, LOC121627819, LOC121627820, LOC121852953, LOC121852954, LOC121852955, LOC121852956, LOC121852957, LOC125316808, LOC125316809, LOC125316810, LOC125316811, LOC125316812, LOC125316813, LOC125316814, LOC125316815, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862658, LOC126862659, LOC126862660, LOC126862661, LOC126862662, LOC126862663, LOC126862664, LOC126862665, LOC126862666, LOC126862667, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LOC400627, LRRC45, MAFG, MCRIP1, MILIP, MIR1250, MIR1268B, MIR3065, MIR3186, MIR338, MIR4525, MIR4730, MIR4739, MIR4740, MIR657, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NDUFAF8, NOTUM, NPB, NPLOC4, NPTX1, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PVALEF, PYCR1, RAB40B, RAC3, RBFOX3, RFNG, RNF213, RNF213-AS1, RPTOR, SECTM1, SGSH, SIRT7, SLC16A3, SLC25A10		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1497176.	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3 GRCh37: Chr17:78981996-81048189 GRCh38: Chr17:81008196-83102584	LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LRRC45, MAFG, MCRIP1, METRNL, MILIP, MIR1250, MIR3065, MIR3186, MIR338, MIR4525, MIR4740, MIR657, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NDUFAF8, NOTUM, NPB, NPLOC4, OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PVALEF, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, SLC25A10, SLC38A10, SNORD134, TBCD, TEPSIN, TEX19, TMEM105, TRX-CAT1-8, TSPAN10, UTS2R, WDR45B, ZNF750, AATK, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, BAIAP2, BAIAP2-DT, CCDC137, CCDC57, CD7, CENPX, CEP131, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LINC00482, LINC01970, LINC01971, LINC03048, LOC101929552, LOC105371925, LOC108254691, LOC108348028, LOC112533679, LOC112533680, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276484, LOC116276485, LOC121627820, LOC121852955, LOC121852956, LOC121852957, LOC125316814, LOC125316815, LOC125316816		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 1537207.	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1 GRCh37: Chr17:79375766-81041938 GRCh38: Chr17:81401966-83084062	OGFOD3, OXLD1, P4HB, PCYT2, PDE6G, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, SLC25A10, SNORD134, TBCD, TEX19, TRX-CAT1-8, TSPAN10, UTS2R, WDR45B, ZNF750, ACTG1, ALYREF, ANAPC11, ARHGDIA, ARL16, ASPSCR1, B3GNTL1, BAHCC1, CCDC137, CCDC57, CD7, CENPX, CSNK1D, CYBC1, DCXR, DCXR-DT, DUS1L, FAAP100, FASN, FN3K, FN3KRP, FOXK2, FSCN2, GCGR, GPS1, HEXD, HEXD-IT1, HGS, LINC01970, LINC01971, LOC101929552, LOC108254691, LOC108348028, LOC112533681, LOC112533682, LOC112533686, LOC112533687, LOC116276485, LOC121627820, LOC121852955, LOC121852956, LOC121852957, LOC125316816, LOC125316817, LOC125316818, LOC125316819, LOC125316821, LOC125316822, LOC125316823, LOC126862668, LOC126862669, LOC126862670, LOC126862671, LOC126862672, LOC126862673, LOC126862674, LRRC45, MAFG, MCRIP1, METRNL, MILIP, MIR3186, MIR4525, MIR6786, MIR6787, MRPL12, MYADML2, NARF, NARF-AS2, NOTUM, NPB, NPLOC4		See cases	Likely pathogenic (Aug 19, 2013)	no assertion criteria provided
Select item 12727368.	NM_001614.5(ACTG1):c.*284A>G GRCh37: Chr17:79477432 GRCh38: Chr17:81510406	ACTG1		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 11894839.	NM_001614.5(ACTG1):c.*259C>T GRCh37: Chr17:79477457 GRCh38: Chr17:81510431	ACTG1		not provided	Likely benign (Dec 7, 2019)	criteria provided, single submitter
Select item 119578710.	NM_001614.5(ACTG1):c.*227C>T GRCh37: Chr17:79477489 GRCh38: Chr17:81510463	ACTG1		not provided	Likely benign (Jul 15, 2018)	criteria provided, single submitter
Select item 122458211.	NM_001614.5(ACTG1):c.*199A>T GRCh37: Chr17:79477517 GRCh38: Chr17:81510491	ACTG1		not provided	Benign (Jan 29, 2020)	criteria provided, single submitter
Select item 120809212.	NM_001614.5(ACTG1):c.*194A>C GRCh37: Chr17:79477522 GRCh38: Chr17:81510496	ACTG1		not provided	Likely benign (Jun 4, 2020)	criteria provided, single submitter
Select item 126814713.	NM_001614.5(ACTG1):c.*192G>C GRCh37: Chr17:79477524 GRCh38: Chr17:81510498	ACTG1		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 127287614.	NM_001614.5(ACTG1):c.*146A>G GRCh37: Chr17:79477570 GRCh38: Chr17:81510544	ACTG1		not provided	Benign (Jan 6, 2020)	criteria provided, single submitter
Select item 126488715.	NM_001614.5(ACTG1):c.*143G>C GRCh37: Chr17:79477573 GRCh38: Chr17:81510547	ACTG1		not provided	Benign (Jan 6, 2020)	criteria provided, single submitter
Select item 119880316.	NM_001614.5(ACTG1):c.*134C>T GRCh37: Chr17:79477582 GRCh38: Chr17:81510556	ACTG1		not provided	Likely benign (Aug 3, 2018)	criteria provided, single submitter
Select item 125471417.	NM_001614.5(ACTG1):c.*130G>A GRCh37: Chr17:79477586 GRCh38: Chr17:81510560	ACTG1		not provided	Likely benign (Feb 17, 2021)	criteria provided, single submitter
Select item 127777618.	NM_001614.5(ACTG1):c.*128T>G GRCh37: Chr17:79477588 GRCh38: Chr17:81510562	ACTG1		not provided	Benign (Feb 13, 2020)	criteria provided, single submitter
Select item 122264719.	NM_001614.5(ACTG1):c.*126C>G GRCh37: Chr17:79477590 GRCh38: Chr17:81510564	ACTG1		not provided	Benign (Jan 29, 2020)	criteria provided, single submitter
Select item 119835420.	NM_001614.5(ACTG1):c.*112C>T GRCh37: Chr17:79477604 GRCh38: Chr17:81510578	ACTG1		not provided	Likely benign (Jun 28, 2018)	criteria provided, single submitter
Select item 124053521.	NM_001614.5(ACTG1):c.*32A>G GRCh37: Chr17:79477684 GRCh38: Chr17:81510658	ACTG1		not provided	Benign (Jan 22, 2020)	criteria provided, single submitter
Select item 37940622.	NM_001614.5(ACTG1):c.*18G>A GRCh37: Chr17:79477698 GRCh38: Chr17:81510672	ACTG1		not specified	Likely benign (Sep 6, 2016)	criteria provided, single submitter
Select item 22843023.	NM_001614.5(ACTG1):c.*11C>T GRCh37: Chr17:79477705 GRCh38: Chr17:81510679	ACTG1		not specified	Uncertain significance (Nov 5, 2015)	criteria provided, single submitter
Select item 119315424.	NM_001614.5(ACTG1):c.*6C>G GRCh37: Chr17:79477710 GRCh38: Chr17:81510684	ACTG1		not provided	Likely benign (Aug 5, 2020)	criteria provided, single submitter
Select item 128307025.	NM_001614.5(ACTG1):c.*2C>T GRCh37: Chr17:79477714 GRCh38: Chr17:81510688	ACTG1		not provided	Benign (Feb 25, 2020)	criteria provided, single submitter
Select item 12826926.	NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) GRCh37: Chr17:79477716 GRCh38: Chr17:81510690	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified, not provided, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166444227.	NM_001614.5(ACTG1):c.1122C>T (p.Cys374=) GRCh37: Chr17:79477722 GRCh38: Chr17:81510696	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 56177728.	NM_001614.5(ACTG1):c.1113C>T (p.His371=) GRCh37: Chr17:79477731 GRCh38: Chr17:81510705	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, not specified, not provided, Baraitser-winter syndrome 2	Benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156265929.	NM_001614.5(ACTG1):c.1110C>T (p.Val370=) GRCh37: Chr17:79477734 GRCh38: Chr17:81510708	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 16270930.	NM_001614.5(ACTG1):c.1110C>A (p.Val370=) GRCh37: Chr17:79477734 GRCh38: Chr17:81510708	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1832031.	NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) GRCh37: Chr17:79477735 GRCh38: Chr17:81510709	ACTG1	V370A	Autosomal dominant nonsyndromic hearing loss 20	Pathogenic (Oct 1, 2006)	no assertion criteria provided
Select item 77217532.	NM_001614.5(ACTG1):c.1107C>T (p.Ile369=) GRCh37: Chr17:79477737 GRCh38: Chr17:81510711	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74359833.	NM_001614.5(ACTG1):c.1104C>T (p.Ser368=) GRCh37: Chr17:79477740 GRCh38: Chr17:81510714	ACTG1		not provided	Likely benign (May 8, 2018)	criteria provided, single submitter
Select item 54021434.	NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) GRCh37: Chr17:79477741 GRCh38: Chr17:81510715	ACTG1	S368F	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 155834635.	NM_001614.5(ACTG1):c.1101C>T (p.Pro367=) GRCh37: Chr17:79477743 GRCh38: Chr17:81510717	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Nov 14, 2021)	criteria provided, single submitter
Select item 191244036.	NM_001614.5(ACTG1):c.1098C>G (p.Gly366=) GRCh37: Chr17:79477746 GRCh38: Chr17:81510720	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 59637037.	NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) GRCh37: Chr17:79477749 GRCh38: Chr17:81510723	ACTG1		not provided, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Conflicting interpretations of pathogenicity (Jan 4, 2021)	criteria provided, conflicting interpretations
Select item 170775538.	NM_001614.5(ACTG1):c.1086CGA[1] (p.Asp363del) GRCh37: Chr17:79477753-79477755 GRCh38: Chr17:81510727-81510729	ACTG1	D363del	not provided	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 51617439.	NM_001614.5(ACTG1):c.1086C>T (p.Tyr362=) GRCh37: Chr17:79477758 GRCh38: Chr17:81510732	ACTG1		not provided, not specified	Likely benign (May 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 200581240.	NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg) GRCh37: Chr17:79477780 GRCh38: Chr17:81510754	ACTG1	M355R	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 164356341.	NM_001614.5(ACTG1):c.1056C>T (p.Phe352=) GRCh37: Chr17:79477788 GRCh38: Chr17:81510762	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (May 27, 2021)	criteria provided, single submitter
Select item 153250542.	NM_001614.5(ACTG1):c.1053C>G (p.Thr351=) GRCh37: Chr17:79477791 GRCh38: Chr17:81510765	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 38476543.	NM_001614.5(ACTG1):c.1053C>T (p.Thr351=) GRCh37: Chr17:79477791 GRCh38: Chr17:81510765	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130295044.	NM_001614.5(ACTG1):c.1051A>G (p.Thr351Ala) GRCh37: Chr17:79477793 GRCh38: Chr17:81510767	ACTG1	T351A	not provided	Uncertain significance (Jun 30, 2020)	criteria provided, single submitter
Select item 16271045.	NM_001614.5(ACTG1):c.1051A>C (p.Thr351Pro) GRCh37: Chr17:79477793 GRCh38: Chr17:81510767	ACTG1	T351P	not specified	Uncertain significance (Dec 24, 2014)	criteria provided, single submitter
Select item 193371546.	NM_001614.5(ACTG1):c.1050C>T (p.Ser350=) GRCh37: Chr17:79477794 GRCh38: Chr17:81510768	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 205352847.	NM_001614.5(ACTG1):c.1044A>T (p.Ser348=) GRCh37: Chr17:79477800 GRCh38: Chr17:81510774	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 66706248.	NM_001614.5(ACTG1):c.1041C>T (p.Ala347=) GRCh37: Chr17:79477803 GRCh38: Chr17:81510777	ACTG1		not specified	Likely benign (Aug 23, 2017)	criteria provided, single submitter
Select item 43407849.	NM_001614.5(ACTG1):c.1039G>T (p.Ala347Ser) GRCh37: Chr17:79477805 GRCh38: Chr17:81510779	ACTG1	A347S	not specified	Uncertain significance (Dec 16, 2015)	criteria provided, single submitter
Select item 203806550.	NM_001614.5(ACTG1):c.1036C>T (p.Leu346=) GRCh37: Chr17:79477808 GRCh38: Chr17:81510782	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Jul 24, 2019)	criteria provided, single submitter
Select item 22843151.	NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) GRCh37: Chr17:79477808 GRCh38: Chr17:81510782	ACTG1	L346V	not specified, not provided	Conflicting interpretations of pathogenicity (Aug 25, 2023)	criteria provided, conflicting interpretations
Select item 51655652.	NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) GRCh37: Chr17:79477815 GRCh38: Chr17:81510789	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12826853.	NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) GRCh37: Chr17:79477818 GRCh38: Chr17:81510792	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120535754.	NM_001614.5(ACTG1):c.1023C>T (p.Ile341=) GRCh37: Chr17:79477821 GRCh38: Chr17:81510795	ACTG1		not provided	Likely benign (Apr 15, 2020)	criteria provided, single submitter
Select item 28852455.	NM_001614.5(ACTG1):c.1017G>C (p.Val339=) GRCh37: Chr17:79477827 GRCh38: Chr17:81510801	ACTG1		not specified, not provided, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Benign (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12826756.	NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) GRCh37: Chr17:79477830 GRCh38: Chr17:81510804	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, not specified, not provided, Baraitser-winter syndrome 2	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148301457.	NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) GRCh37: Chr17:79477831 GRCh38: Chr17:81510805	ACTG1	S338W	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely pathogenic (Sep 17, 2021)	criteria provided, single submitter
Select item 56139558.	NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) GRCh37: Chr17:79477831 GRCh38: Chr17:81510805	ACTG1	S338L	not provided, Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Mar 17, 2020)	criteria provided, multiple submitters, no conflicts
Select item 158263959.	NM_001614.5(ACTG1):c.1008G>A (p.Lys336=) GRCh37: Chr17:79477836 GRCh38: Chr17:81510810	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Jul 24, 2021)	criteria provided, single submitter
Select item 52065560.	NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) GRCh37: Chr17:79477840 GRCh38: Chr17:81510814	ACTG1	R335H	Inborn genetic diseases, Neurodevelopmental delay, Baraitser-winter syndrome 2	Pathogenic/Likely pathogenic (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56139661.	NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) GRCh37: Chr17:79477841 GRCh38: Chr17:81510815	ACTG1	R335C	not provided, Autosomal dominant nonsyndromic hearing loss 20	Conflicting interpretations of pathogenicity (Apr 20, 2023)	criteria provided, conflicting interpretations
Select item 66739962.	NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp) GRCh37: Chr17:79477842 GRCh38: Chr17:81510816	ACTG1	E334D	Rare genetic deafness	Likely pathogenic (May 23, 2018)	criteria provided, single submitter
Select item 68962263.	NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln) GRCh37: Chr17:79477844 GRCh38: Chr17:81510818	ACTG1	E334Q	Baraitser-winter syndrome 2	Uncertain significance (Jul 26, 2019)	criteria provided, single submitter
Select item 181055864.	NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg) GRCh37: Chr17:79477846 GRCh38: Chr17:81510820	ACTG1	P333R	not provided	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 16271165.	NM_001614.5(ACTG1):c.996C>A (p.Pro332=) GRCh37: Chr17:79477848 GRCh38: Chr17:81510822	ACTG1		not specified, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1831766.	NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) GRCh37: Chr17:79477850 GRCh38: Chr17:81510824	ACTG1	P332A	Autosomal dominant nonsyndromic hearing loss 20	Pathogenic (Nov 1, 2003)	no assertion criteria provided
Select item 131422867.	NM_001614.5(ACTG1):c.991G>A (p.Ala331Thr) GRCh37: Chr17:79477853 GRCh38: Chr17:81510827	ACTG1	A331T	not provided	Uncertain significance (Apr 7, 2021)	criteria provided, single submitter
Select item 207253668.	NM_001614.5(ACTG1):c.990C>T (p.Ile330=) GRCh37: Chr17:79477854 GRCh38: Chr17:81510828	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 43936669.	NM_001614.5(ACTG1):c.985-5dup GRCh37: Chr17:79477866 GRCh38: Chr17:81510837-81510838	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 28553570.	NM_001614.5(ACTG1):c.985-5T>C GRCh37: Chr17:79477864 GRCh38: Chr17:81510838	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified, not provided, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207343671.	NM_001614.5(ACTG1):c.985-25_985-10dup GRCh37: Chr17:79477868-79477869 GRCh38: Chr17:81510842-81510843	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 51580672.	NM_001614.5(ACTG1):c.985-11T>C GRCh37: Chr17:79477870 GRCh38: Chr17:81510844	ACTG1		not specified	Likely benign (Feb 26, 2018)	criteria provided, single submitter
Select item 163185273.	NM_001614.5(ACTG1):c.985-20G>A GRCh37: Chr17:79477879 GRCh38: Chr17:81510853	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 56141774.	NM_001614.5(ACTG1):c.985-32T>C GRCh37: Chr17:79477891 GRCh38: Chr17:81510865	ACTG1		not provided	Benign (Jun 13, 2018)	criteria provided, single submitter
Select item 123369775.	NM_001614.5(ACTG1):c.985-38G>A GRCh37: Chr17:79477897 GRCh38: Chr17:81510871	ACTG1		not provided	Benign (Nov 26, 2019)	criteria provided, single submitter
Select item 56139476.	NM_001614.5(ACTG1):c.985-40del GRCh37: Chr17:79477899 GRCh38: Chr17:81510873	ACTG1		not provided, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 194715777.	NM_001614.5(ACTG1):c.984+20G>A GRCh37: Chr17:79477933 GRCh38: Chr17:81510907	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Nov 25, 2021)	criteria provided, single submitter
Select item 42168478.	NM_001614.5(ACTG1):c.984+13dup GRCh37: Chr17:79477939-79477940 GRCh38: Chr17:81510913-81510914	ACTG1		not provided	Likely benign (Jul 20, 2016)	criteria provided, single submitter
Select item 216684179.	NM_001614.5(ACTG1):c.984+12G>A GRCh37: Chr17:79477941 GRCh38: Chr17:81510915	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 206951680.	NM_001614.5(ACTG1):c.984+8G>A GRCh37: Chr17:79477945 GRCh38: Chr17:81510919	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 209097781.	NM_001614.5(ACTG1):c.984+7C>G GRCh37: Chr17:79477946 GRCh38: Chr17:81510920	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 70632582.	NM_001614.5(ACTG1):c.984+7C>T GRCh37: Chr17:79477946 GRCh38: Chr17:81510920	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided	Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161522983.	NM_001614.5(ACTG1):c.981C>A (p.Ile327=) GRCh37: Chr17:79477956 GRCh38: Chr17:81510930	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 2, 2021)	criteria provided, single submitter
Select item 70841684.	NM_001614.5(ACTG1):c.981C>T (p.Ile327=) GRCh37: Chr17:79477956 GRCh38: Chr17:81510930	ACTG1		not provided	Likely benign (Jan 8, 2018)	criteria provided, single submitter
Select item 70649285.	NM_001614.5(ACTG1):c.978G>A (p.Lys326=) GRCh37: Chr17:79477959 GRCh38: Chr17:81510933	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided, Autosomal dominant nonsyndromic hearing loss 20	Benign/Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51617386.	NM_001614.5(ACTG1):c.963G>A (p.Ala321=) GRCh37: Chr17:79477974 GRCh38: Chr17:81510948	ACTG1		not specified	Likely benign (Feb 2, 2018)	criteria provided, single submitter
Select item 22717387.	NM_001614.5(ACTG1):c.957C>T (p.Ala319=) GRCh37: Chr17:79477980 GRCh38: Chr17:81510954	ACTG1		not specified	Likely benign (Apr 30, 2012)	criteria provided, single submitter
Select item 22717288.	NM_001614.5(ACTG1):c.954C>T (p.Thr318=) GRCh37: Chr17:79477983 GRCh38: Chr17:81510957	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not provided, not specified, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Benign/Likely benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 16271289.	NM_001614.5(ACTG1):c.945G>A (p.Lys315=) GRCh37: Chr17:79477992 GRCh38: Chr17:81510966	ACTG1		not specified, not provided	Likely benign (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209778590.	NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu) GRCh37: Chr17:79477994 GRCh38: Chr17:81510968	ACTG1	K315E	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 171887591.	NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg) GRCh37: Chr17:79477996 GRCh38: Chr17:81510970	ACTG1	Q314R	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 131317792.	NM_001614.5(ACTG1):c.940C>G (p.Gln314Glu) GRCh37: Chr17:79477997 GRCh38: Chr17:81510971	ACTG1	Q314E	not provided	Uncertain significance (Jan 30, 2020)	criteria provided, single submitter
Select item 133890693.	NM_001614.5(ACTG1):c.936G>A (p.Arg312=) GRCh37: Chr17:79478001 GRCh38: Chr17:81510975	ACTG1		not provided, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241766294.	NM_001614.5(ACTG1):c.933C>T (p.Asp311=) GRCh37: Chr17:79478004 GRCh38: Chr17:81510978	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 4415195.	NM_001614.5(ACTG1):c.930C>T (p.Ala310=) GRCh37: Chr17:79478007 GRCh38: Chr17:81510981	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2, not specified, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51622396.	NM_001614.5(ACTG1):c.924C>T (p.Gly308=) GRCh37: Chr17:79478013 GRCh38: Chr17:81510987	ACTG1		not provided	Likely benign (Jan 6, 2020)	criteria provided, single submitter
Select item 139759697.	NM_001614.5(ACTG1):c.921G>A (p.Pro307=) GRCh37: Chr17:79478016 GRCh38: Chr17:81510990	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 129996598.	NM_001614.5(ACTG1):c.920C>T (p.Pro307Leu) GRCh37: Chr17:79478017 GRCh38: Chr17:81510991	ACTG1	P307L	not provided	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 4415099.	NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) GRCh37: Chr17:79478019 GRCh38: Chr17:81510993	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20, not specified, not provided, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1705652100.	NM_001614.5(ACTG1):c.914T>C (p.Met305Thr) GRCh37: Chr17:79478023 GRCh38: Chr17:81510997	ACTG1	M305T	Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter

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