2548[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 1787116.	NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) GRCh37: Chr17:78071052 GRCh38: Chr17:80097253	CCDC40, GAA		not specified, not provided, Glycogen storage disease, type II, Primary ciliary dyskinesia, Primary ciliary dyskinesia 15	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1628527.	NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) GRCh37: Chr17:78073355 GRCh38: Chr17:80099556	CCDC40, GAA		not specified, not provided, Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8904688.	NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His) GRCh37: Chr17:78073357 GRCh38: Chr17:80099558	CCDC40, GAA	R1071H	Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 958809.	NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) GRCh37: Chr17:78073485 GRCh38: Chr17:80099686	GAA, CCDC40	V1114M	not specified, not provided, Glycogen storage disease, type II, Primary ciliary dyskinesia, Primary ciliary dyskinesia 15	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17871210.	NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) GRCh37: Chr17:78073562 GRCh38: Chr17:80099763	CCDC40, GAA		not provided, Primary ciliary dyskinesia, Glycogen storage disease, type II, not specified, Primary ciliary dyskinesia 15	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16285311.	NM_017950.4(CCDC40):c.*15T>C GRCh37: Chr17:78073589 GRCh38: Chr17:80099790	GAA, CCDC40		not specified, not provided, Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32575212.	NM_017950.4(CCDC40):c.*149T>C GRCh37: Chr17:78073723 GRCh38: Chr17:80099924	CCDC40, GAA		Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, not provided, Glycogen storage disease, type II	Benign (Jul 9, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32575313.	NM_017950.4(CCDC40):c.*186A>C GRCh37: Chr17:78073760 GRCh38: Chr17:80099961	CCDC40, GAA		Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, not provided, Glycogen storage disease, type II	Benign (Jul 9, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32575814.	NM_017950.4(CCDC40):c.*265C>T GRCh37: Chr17:78073839 GRCh38: Chr17:80100040	CCDC40, GAA		Primary ciliary dyskinesia 15, not provided, Primary ciliary dyskinesia, Glycogen storage disease, type II	Benign/Likely benign (Dec 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32576515.	NM_017950.4(CCDC40):c.*654A>C GRCh37: Chr17:78074228 GRCh38: Chr17:80100429	CCDC40, GAA		Primary ciliary dyskinesia, Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 117819716.	Single allele GRCh37: Chr17:78075228 GRCh38: Chr17:80101429	GAA		not provided	Benign (Jun 29, 2018)	criteria provided, single submitter
Select item 119647417.	Single allele GRCh37: Chr17:78075247 GRCh38: Chr17:80101448	GAA		not provided	Likely benign (Aug 10, 2020)	criteria provided, single submitter
Select item 134275318.	Single allele GRCh37: Chr17:78075361 GRCh38: Chr17:80101562	GAA		not provided	Likely benign (Aug 22, 2021)	criteria provided, single submitter
Select item 32576719.	NM_000152.5(GAA):c.-338C>G GRCh37: Chr17:78075384 GRCh38: Chr17:80101585	CCDC40, GAA		not provided, Primary ciliary dyskinesia, Glycogen storage disease, type II	Benign/Likely benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89055020.	NM_000152.5(GAA):c.-325C>T GRCh37: Chr17:78075397 GRCh38: Chr17:80101598	CCDC40, GAA		Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 51409721.	NM_000152.5(GAA):c.-317C>T GRCh37: Chr17:78075405 GRCh38: Chr17:80101606	GAA		not specified	Likely benign (Dec 11, 2017)	criteria provided, single submitter
Select item 32576822.	NM_000152.5(GAA):c.-312C>T GRCh37: Chr17:78075410 GRCh38: Chr17:80101611	GAA		not specified, Glycogen storage disease, type II	Conflicting interpretations of pathogenicity (Jan 22, 2020)	criteria provided, conflicting interpretations
Select item 50941223.	NM_000152.5(GAA):c.-284G>A GRCh37: Chr17:78075438 GRCh38: Chr17:80101639	GAA		not specified	Likely benign (May 8, 2017)	criteria provided, single submitter
Select item 32576924.	NM_000152.5(GAA):c.-260G>C GRCh37: Chr17:78075462 GRCh38: Chr17:80101663	GAA, CCDC40		Primary ciliary dyskinesia, not provided, Glycogen storage disease, type II	Benign/Likely benign (Jun 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32577025.	NM_000152.5(GAA):c.-236C>T GRCh37: Chr17:78075486 GRCh38: Chr17:80101687	GAA		Glycogen storage disease, type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32577126.	NM_000152.5(GAA):c.-178G>A GRCh37: Chr17:78075544 GRCh38: Chr17:80101745	CCDC40, GAA		not provided, Primary ciliary dyskinesia, Glycogen storage disease, type II	Benign/Likely benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 38441427.	NM_000152.5(GAA):c.-116C>T GRCh37: Chr17:78075606 GRCh38: Chr17:80101807	GAA		not provided, Glycogen storage disease, type II	Conflicting interpretations of pathogenicity (May 13, 2021)	criteria provided, conflicting interpretations
Select item 50686428.	NM_000152.5(GAA):c.-104C>T GRCh37: Chr17:78075618 GRCh38: Chr17:80101819	GAA		not specified	Likely benign (Jan 26, 2017)	criteria provided, single submitter
Select item 66904329.	NM_000152.5(GAA):c.-103G>A GRCh37: Chr17:78075619 GRCh38: Chr17:80101820	GAA		not provided	Likely benign (Jun 5, 2018)	criteria provided, single submitter
Select item 89111530.	NM_000152.5(GAA):c.-75C>G GRCh37: Chr17:78075647 GRCh38: Chr17:80101848	CCDC40, GAA		not provided, Primary ciliary dyskinesia 15, Glycogen storage disease, type II	Likely benign (Mar 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32577231.	NM_000152.5(GAA):c.-62A>C GRCh37: Chr17:78075660 GRCh38: Chr17:80101861	GAA		Glycogen storage disease, type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 38947432.	NM_000152.5(GAA):c.-37A>G GRCh37: Chr17:78075685 GRCh38: Chr17:80101886	GAA		not specified	Likely benign (Oct 7, 2016)	criteria provided, single submitter
Select item 50775833.	NM_000152.5(GAA):c.-33+17C>T GRCh37: Chr17:78075706 GRCh38: Chr17:80101907	GAA		not specified	Likely benign (Mar 1, 2017)	criteria provided, single submitter
Select item 123743434.	NM_000152.5(GAA):c.-33+219G>C GRCh37: Chr17:78075908 GRCh38: Chr17:80102109	GAA		not provided	Benign (Jul 3, 2018)	criteria provided, single submitter
Select item 67762535.	NM_000152.5(GAA):c.-32-181C>T GRCh37: Chr17:78078173 GRCh38: Chr17:80104374	GAA		not provided	Likely benign (Jun 16, 2018)	criteria provided, single submitter
Select item 119649436.	NM_000152.5(GAA):c.-32-84G>A GRCh37: Chr17:78078270 GRCh38: Chr17:80104471	GAA		not provided	Likely benign (Jul 14, 2018)	criteria provided, single submitter
Select item 61918937.	NM_000152.5(GAA):c.-32-18C>G GRCh37: Chr17:78078336 GRCh38: Chr17:80104537	GAA		Glycogen storage disease type II, infantile	Uncertain significance (Feb 19, 2019)	criteria provided, single submitter
Select item 198066038.	NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC GRCh37: Chr17:78078337-78078344 GRCh38: Chr17:80104538-80104545	GAA		Glycogen storage disease, type II	Likely pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 102552839.	NM_000152.5(GAA):c.-32-13T>C GRCh37: Chr17:78078341 GRCh38: Chr17:80104542	GAA		not specified, Glycogen storage disease, type II	Uncertain significance (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64747540.	NC_000017.10:g.(?_78078341)_(78093140_?)dup GRCh37: Chr17:78078341-78093140 GRCh38: Chr17:80104542-80119341	GAA		Glycogen storage disease, type II	Uncertain significance (Oct 29, 2019)	criteria provided, single submitter
Select item 52655841.	NC_000017.10:g.(?_78078341)_(78093150_?)dup GRCh37: Chr17:78078341-78093150 GRCh38: Chr17:80104542-80119351	GAA		Glycogen storage disease, type II	Uncertain significance (Oct 14, 2019)	criteria provided, single submitter
Select item 52655642.	NC_000017.11:g.(?_80104542)_(80105914_?)del GRCh37: Chr17:78078341-78079713 GRCh38: Chr17:80104542-80105914	GAA		Glycogen storage disease, type II	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 402743.	NM_000152.5(GAA):c.-32-13T>G GRCh37: Chr17:78078341 GRCh38: Chr17:80104542	GAA		Cardiovascular phenotype, Inborn genetic diseases, Glycogen storage disease due to acid maltase deficiency, late-onset, not provided, Glycogen storage disease, type IV, Myopathy, Glycogen storage disease, type II	Pathogenic (Jan 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 131213144.	NM_000152.5(GAA):c.-32-5C>G GRCh37: Chr17:78078349 GRCh38: Chr17:80104550	GAA		not provided	Uncertain significance (Sep 9, 2019)	criteria provided, single submitter
Select item 50752945.	NM_000152.5(GAA):c.-32-5C>T GRCh37: Chr17:78078349 GRCh38: Chr17:80104550	GAA		not provided	Likely benign (Jun 7, 2018)	criteria provided, single submitter
Select item 38280046.	NM_000152.5(GAA):c.-32-4G>A GRCh37: Chr17:78078350 GRCh38: Chr17:80104551	GAA		not specified	Likely benign (Feb 11, 2016)	criteria provided, single submitter
Select item 207023447.	NM_000152.5(GAA):c.-32-3del GRCh37: Chr17:78078351 GRCh38: Chr17:80104552	GAA		Glycogen storage disease, type II	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 150080148.	NM_000152.5(GAA):c.-32-3C>T GRCh37: Chr17:78078351 GRCh38: Chr17:80104552	GAA		Glycogen storage disease, type II	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 37162249.	NM_000152.5(GAA):c.-32-3C>A GRCh37: Chr17:78078351 GRCh38: Chr17:80104552	GAA		Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97281750.	NM_000152.5(GAA):c.-32-2A>G GRCh37: Chr17:78078352 GRCh38: Chr17:80104553	GAA		Glycogen storage disease, type II	Pathogenic/Likely pathogenic (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55742951.	NM_000152.5(GAA):c.-32-1G>C GRCh37: Chr17:78078353 GRCh38: Chr17:80104554	GAA		Glycogen storage disease, type II	Likely pathogenic (Jan 24, 2020)	reviewed by expert panel FDA Recognized Database
Select item 67193652.	NM_000152.5(GAA):c.-18T>A GRCh37: Chr17:78078368 GRCh38: Chr17:80104569	GAA		not provided	Likely benign (Dec 7, 2022)	criteria provided, single submitter
Select item 67217053.	NM_000152.5(GAA):c.-9T>C GRCh37: Chr17:78078377 GRCh38: Chr17:80104578	GAA		not provided	Likely benign (Jun 19, 2018)	criteria provided, single submitter
Select item 28349454.	NM_000152.5(GAA):c.-2C>T GRCh37: Chr17:78078384 GRCh38: Chr17:80104585	GAA		not specified, not provided	Benign/Likely benign (Jul 30, 2020)	criteria provided, multiple submitters, no conflicts
Select item 98479855.	NM_000152.5(GAA):c.1A>T (p.Met1Leu) GRCh37: Chr17:78078386 GRCh38: Chr17:80104587	GAA	M1L	Glycogen storage disease, type II	Likely pathogenic (Jun 16, 2020)	reviewed by expert panel FDA Recognized Database
Select item 18878556.	NM_000152.5(GAA):c.1A>G (p.Met1Val) GRCh37: Chr17:78078386 GRCh38: Chr17:80104587	GAA	M1V	Glycogen storage disease, type II	Pathogenic/Likely pathogenic (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98480257.	NM_000152.5(GAA):c.2T>C (p.Met1Thr) GRCh37: Chr17:78078387 GRCh38: Chr17:80104588	GAA	M1T	Glycogen storage disease, type II	Likely pathogenic (Jun 16, 2020)	reviewed by expert panel FDA Recognized Database
Select item 132296958.	NM_000152.5(GAA):c.3_4delinsTT (p.Met1_Gly2delinsIleTer) GRCh37: Chr17:78078388-78078389 GRCh38: Chr17:80104589-80104590	GAA		not provided	Pathogenic (Oct 22, 2019)	criteria provided, single submitter
Select item 97281659.	NM_000152.5(GAA):c.3G>A (p.Met1Ile) GRCh37: Chr17:78078388 GRCh38: Chr17:80104589	GAA	M1I	Glycogen storage disease, type II	Likely pathogenic (Jun 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 56037760.	NM_000152.5(GAA):c.4G>T (p.Gly2Ter) GRCh37: Chr17:78078389 GRCh38: Chr17:80104590	GAA	G2*	Glycogen storage disease, type II	Likely pathogenic (Mar 10, 2023)	reviewed by expert panel FDA Recognized Database
Select item 50092961.	NM_000152.5(GAA):c.5G>C (p.Gly2Ala) GRCh37: Chr17:78078390 GRCh38: Chr17:80104591	GAA	G2A	Glycogen storage disease, type II, not provided	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83705862.	NM_000152.5(GAA):c.8T>C (p.Val3Ala) GRCh37: Chr17:78078393 GRCh38: Chr17:80104594	GAA	V3A	Glycogen storage disease, type II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 18847563.	NM_000152.5(GAA):c.11G>A (p.Arg4Lys) GRCh37: Chr17:78078396 GRCh38: Chr17:80104597	GAA	R4K	not provided, Glycogen storage disease, type II	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139641664.	NM_000152.5(GAA):c.16C>T (p.Pro6Ser) GRCh37: Chr17:78078401 GRCh38: Chr17:80104602	GAA	P6S	Glycogen storage disease, type II	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 65051765.	NM_000152.5(GAA):c.17C>A (p.Pro6Gln) GRCh37: Chr17:78078402 GRCh38: Chr17:80104603	GAA	P6Q	Glycogen storage disease, type II	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 49967466.	NM_000152.5(GAA):c.17C>T (p.Pro6Leu) GRCh37: Chr17:78078402 GRCh38: Chr17:80104603	GAA	P6L	not provided, Glycogen storage disease, type II	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59819567.	NM_000152.5(GAA):c.18G>A (p.Pro6=) GRCh37: Chr17:78078403 GRCh38: Chr17:80104604	GAA		not provided, Glycogen storage disease, type II	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 59323068.	NM_000152.5(GAA):c.18G>C (p.Pro6=) GRCh37: Chr17:78078403 GRCh38: Chr17:80104604	GAA		not provided, Glycogen storage disease, type II	Conflicting interpretations of pathogenicity (Feb 5, 2022)	criteria provided, conflicting interpretations
Select item 162963669.	NM_000152.5(GAA):c.21C>T (p.Pro7=) GRCh37: Chr17:78078406 GRCh38: Chr17:80104607	GAA		Glycogen storage disease, type II	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 219068670.	NM_000152.5(GAA):c.24C>T (p.Cys8=) GRCh37: Chr17:78078409 GRCh38: Chr17:80104610	GAA		Glycogen storage disease, type II	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 28363671.	NM_000152.5(GAA):c.25T>C (p.Ser9Pro) GRCh37: Chr17:78078410 GRCh38: Chr17:80104611	GAA	S9P	not provided	Uncertain significance (Oct 2, 2015)	criteria provided, single submitter
Select item 101515772.	NM_000152.5(GAA):c.26C>T (p.Ser9Phe) GRCh37: Chr17:78078411 GRCh38: Chr17:80104612	GAA	S9F	Glycogen storage disease, type II	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 80832573.	NM_000152.5(GAA):c.26C>G (p.Ser9Cys) GRCh37: Chr17:78078411 GRCh38: Chr17:80104612	GAA	S9C	not provided	Uncertain significance (Jun 1, 2016)	criteria provided, single submitter
Select item 45641974.	NM_000152.5(GAA):c.31C>T (p.Arg11Trp) GRCh37: Chr17:78078416 GRCh38: Chr17:80104617	GAA	R11W	Glycogen storage disease, type II	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 45641875.	NM_000152.5(GAA):c.31C>G (p.Arg11Gly) GRCh37: Chr17:78078416 GRCh38: Chr17:80104617	GAA	R11G	Glycogen storage disease, type II	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 105813776.	NM_000152.5(GAA):c.32G>T (p.Arg11Leu) GRCh37: Chr17:78078417 GRCh38: Chr17:80104618	GAA	R11L	Glycogen storage disease, type II	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 25536277.	NM_000152.5(GAA):c.32G>A (p.Arg11Gln) GRCh37: Chr17:78078417 GRCh38: Chr17:80104618	GAA	R11Q	not specified, not provided, Glycogen storage disease, type II	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 52655478.	NM_000152.5(GAA):c.36C>T (p.Leu12=) GRCh37: Chr17:78078421 GRCh38: Chr17:80104622	GAA		Glycogen storage disease, type II, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 244646179.	NM_000152.5(GAA):c.40_47del (p.Ala14fs) GRCh37: Chr17:78078422-78078429 GRCh38: Chr17:80104623-80104630	GAA	A14fs	Glycogen storage disease, type II	Pathogenic (Feb 7, 2023)	reviewed by expert panel FDA Recognized Database
Select item 143392280.	NM_000152.5(GAA):c.41C>T (p.Ala14Val) GRCh37: Chr17:78078426 GRCh38: Chr17:80104627	GAA	A14V	Glycogen storage disease, type II	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 108575281.	NM_000152.5(GAA):c.42C>T (p.Ala14=) GRCh37: Chr17:78078427 GRCh38: Chr17:80104628	GAA		Glycogen storage disease, type II	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 79723882.	NM_000152.5(GAA):c.42C>G (p.Ala14=) GRCh37: Chr17:78078427 GRCh38: Chr17:80104628	GAA		Glycogen storage disease, type II	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 58222683.	NM_000152.5(GAA):c.43G>A (p.Val15Ile) GRCh37: Chr17:78078428 GRCh38: Chr17:80104629	GAA	V15I	Glycogen storage disease, type II	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 162051584.	NM_000152.5(GAA):c.48C>T (p.Cys16=) GRCh37: Chr17:78078433 GRCh38: Chr17:80104634	GAA		Glycogen storage disease, type II	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 151143785.	NM_000152.5(GAA):c.49G>T (p.Ala17Ser) GRCh37: Chr17:78078434 GRCh38: Chr17:80104635	GAA	A17S	Glycogen storage disease, type II	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 45642386.	NM_000152.5(GAA):c.49G>A (p.Ala17Thr) GRCh37: Chr17:78078434 GRCh38: Chr17:80104635	GAA	A17T	Glycogen storage disease, type II	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 172006987.	NM_000152.5(GAA):c.52C>T (p.Leu18Phe) GRCh37: Chr17:78078437 GRCh38: Chr17:80104638	GAA	L18F	Glycogen storage disease, type II	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 145322888.	NM_000152.5(GAA):c.54C>G (p.Leu18=) GRCh37: Chr17:78078439 GRCh38: Chr17:80104640	GAA		Glycogen storage disease, type II	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 32577389.	NM_000152.5(GAA):c.54C>T (p.Leu18=) GRCh37: Chr17:78078439 GRCh38: Chr17:80104640	GAA		Glycogen storage disease, type II	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 65711190.	NM_000152.5(GAA):c.55G>A (p.Val19Met) GRCh37: Chr17:78078440 GRCh38: Chr17:80104641	GAA	V19M	Cardiovascular phenotype, Glycogen storage disease, type II	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55504091.	NM_000152.5(GAA):c.55del (p.Val19fs) GRCh37: Chr17:78078440 GRCh38: Chr17:80104641	GAA	V19fs	Glycogen storage disease, type II	Likely pathogenic (Mar 10, 2023)	reviewed by expert panel FDA Recognized Database
Select item 214758592.	NM_000152.5(GAA):c.58T>A (p.Ser20Thr) GRCh37: Chr17:78078443 GRCh38: Chr17:80104644	GAA	S20T	Glycogen storage disease, type II	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 39185393.	NM_000152.5(GAA):c.59C>G (p.Ser20Cys) GRCh37: Chr17:78078444 GRCh38: Chr17:80104645	GAA	S20C	not provided, Glycogen storage disease, type II	Uncertain significance (Oct 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 59601494.	NM_000152.5(GAA):c.67A>G (p.Thr23Ala) GRCh37: Chr17:78078452 GRCh38: Chr17:80104653	GAA	T23A	not provided, Glycogen storage disease, type II	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 85896395.	NM_000152.5(GAA):c.68C>T (p.Thr23Ile) GRCh37: Chr17:78078453 GRCh38: Chr17:80104654	GAA	T23I	Glycogen storage disease, type II	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 138967096.	NM_000152.5(GAA):c.69C>A (p.Thr23=) GRCh37: Chr17:78078454 GRCh38: Chr17:80104655	GAA		Cardiovascular phenotype, Glycogen storage disease, type II	Conflicting interpretations of pathogenicity (Dec 4, 2022)	criteria provided, conflicting interpretations
Select item 45643197.	NM_000152.5(GAA):c.69C>T (p.Thr23=) GRCh37: Chr17:78078454 GRCh38: Chr17:80104655	GAA		Glycogen storage disease, type II	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 29044098.	NM_000152.5(GAA):c.70G>A (p.Ala24Thr) GRCh37: Chr17:78078455 GRCh38: Chr17:80104656	GAA	A24T	not provided, Glycogen storage disease, type II, Cardiovascular phenotype	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108954999.	NM_000152.5(GAA):c.72T>C (p.Ala24=) GRCh37: Chr17:78078457 GRCh38: Chr17:80104658	GAA		Glycogen storage disease, type II	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 497169100.	NM_000152.5(GAA):c.74C>T (p.Ala25Val) GRCh37: Chr17:78078459 GRCh38: Chr17:80104660	GAA	A25V	not provided, Glycogen storage disease, type II	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts

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