54806[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1509371.	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 GRCh37: Chr6:75092523-142361637 GRCh38: Chr6:74382807-142040500	ABRACL, AFG1L, AHI1, AHI1-DT, AK9, AKAP7, AKIRIN2, ALDH8A1, AMD1, ANKRD6, ARFGEF3, ARG1, ARHGAP18, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BACH2, BCKDHB, BCLAF1, BEND3, BVES, BVES-AS1, C6orf163, C6orf183, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CASC6, CASP8AP2, CCDC28A, CCDC28A-AS1, CCN2, CCN6, CCNC, CD164, CD24, CDC40, CDK19, CENPW, CEP162, CEP57L1, CEP85L, CFAP206, CGA, CITED2, CLVS2, CNR1, COL10A1, COL12A1, COQ3, COX7A2, CRE2, CRYBG1, CT69, CTAGE9, CYB5R4, DCBLD1, DDO, DOP1A, DSE, ECHDC1, ECT2L, ELOVL4, ENPP1, ENPP3, EPB41L2, EPHA7, EYA4, FABP7, FAM162B, FAM184A, FAM229B, FAXC, FBXL4, FHL5, FIG4, FILIP1, FILNC1, FOXO3, FRK, FUT9, FYN, GABRR1, GABRR2, GJA1, GJA10, GJB7, GOPC, GPR6, GPR63, GPRC6A, GRIK2, GTF3C6, HACE1, HBS1L, HDAC2, HDAC2-AS2, HDDC2, HEBP2, HECA, HEY2, HEY2-AS1, HINT3, HMGN3, HMGN3-AS1, HS3ST5, HSF2, HTR1B, HTR1E, IBTK, IFNGR1, IL20RA, IL22RA2, IMPG1, IRAK1BP1, KIAA0408, KLHL32, KPNA5, L3MBTL3, LAMA2, LAMA4, LAMA4-AS1, LCA5, LCAL1, LIN28B, LIN28B-AS1, LINC00222, LINC00326, LINC01010, LINC01013, LINC01312, LINC01526, LINC01590, LINC01611, LINC01621, LINC01625, LINC02518, LINC02523, LINC02524, LINC02526, LINC02527, LINC02531, LINC02532, LINC02534, LINC02535, LINC02539, LINC02540, LINC02541, LINC02542, LINC02836, LINC02865, LINC02880, LINC02941, LINC03002, LINC03004, LNCPOIR, LOC100126584, LOC100287467, LOC101927314, LOC101927919, LOC101928373, LOC101928516, LOC101928540, LOC101928911, LOC101928936, LOC102723341, LOC102723690, LOC102724646, LOC103352541, LOC105377858, LOC105377862, LOC105377879, LOC105377924, LOC105377967, LOC105377975, LOC108169207, LOC108228196, LOC108281144, LOC108348029, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121073, LOC110121109, LOC110121145, LOC110121174, LOC110121188, LOC110121195, LOC110121249, LOC110121273, LOC110121301, LOC111365199, LOC111365204, LOC111413030, LOC111413038, LOC111413040, LOC111429613, LOC111589214, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113175019, LOC113175020, LOC114803478, LOC116183065, LOC116183066, LOC116183067, LOC116183068, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121132708, LOC121740657, LOC121740658, LOC121740659, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC121740666, LOC121740667, LOC123775374, LOC123775375, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC123775386, LOC123775387, LOC123775388, LOC123775389, LOC123775390, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, LOC123864072, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC124900217, LOC126859712, LOC126859713, LOC126859714, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC126859747, LOC126859748, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC126859790, LOC126859791, LOC126859792, LOC126859793, LOC126859794, LOC126859795, LOC126859796, LOC126859797, LOC126859798, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC127407129, LOC128092253, LOC128559983, LOC128667231, LOC128669075, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC285762, LYRM2, MAN1A1, MANEA, MANEA-DT, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP3K7, MAP7, MARCKS, MCHR2, MCHR2-AS1, MCM9, MDN1, MDN1-AS1, ME1, MED23, MEI4, METTL24, MFSD4B, MICAL1, MIR10524, MIR2113, MIR3144, MIR3145, MIR3662, MIR3668, MIR4463, MIR4464, MIR4465, MIR4643, MIR548A2, MIR548AI, MIR548AJ1, MIR548B, MIR548H5, MIR587, MIR588, MMS22L, MOXD1, MRAP2, MROCKI, MTCL3, MTFR2, MTRES1, MYB, MYO6, NCOA7, NCOA7-AS1, NDUFAF4, NHEG1, NHSL1, NHSL1-AS1, NKAIN2, NR2E1, NT5DC1, NT5E, NUS1, OLIG3, OR2A4, ORC3, OSTM1, OSTM1-AS1, PBOV1, PDE7B, PDE7B-AS1, PDSS2, PERP, PEX7, PGM3, PHIP, PKIB, PLN, PM20D2, PNISR, PNISR-AS1, PNKY, PNRC1, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, PRSS35, PTPRK, PTPRK-AS1, QRSL1, RARS2, REPS1, REV3L, RFPL4B, RFX6, RIPPLY2, RIPPLY2-CYB5R4, RNF146, RNF217, RNF217-AS1, RNGTT, ROS1, RPF2, RPS12, RRAGD, RSPH4A, RSPO3, RTN4IP1, RWDD1, RWDD2A, SAMD3, SCML4, SEC63, SENP6, SERINC1, SESN1, SGK1, SH3BGRL2, SIM1, SIM1-AS1, SIMALR, SLC16A10, SLC18B1, SLC22A16, SLC2A12, SLC35A1, SLC35D3, SLC35F1, SMIM28, SMIM8, SMLR1, SMPD2, SMPDL3A, SNAP91, SNHG5, SNORA33, SNORA40C, SNORD100, SNORD101, SNORD156, SNORD166, SNORD50A, SNORD50B, SNX14, SNX3, SOBP, SOGA3-KIAA0408, SPACA1, SRSF12, STX7, SYNCRIP, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TARID, TBC1D32, TBPL1, TBX18, TBX18-AS1, TCF21, TENT5A, THEMIS, TMEM200A, TMEM244, TMEM30A, TMEM30A-DT, TNFAIP3, TPBG, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSG1, TSPYL1, TSPYL4, TSTD3, TTK, TUBE1, TXLNB, UBE2J1, UBE3D, UFL1, UFL1-AS1, USP45, VGLL2, VNN1, VNN2, VNN3, WAKMAR2, WASF1, ZBTB24, ZBTB24-DT, ZNF292, ZUP1		See cases	Pathogenic (Jul 5, 2011)	no assertion criteria provided
Select item 1553772.	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 GRCh37: Chr6:133858409-166289033 GRCh38: Chr6:133537271-165875545	ABRACL, ACAT2, ADAT2, ADGB, ADGB-DT, ADGRG6, AGPAT4, AGPAT4-IT1, AHI1, AHI1-DT, AIG1, AIRN, AKAP12, ALDH8A1, ARFGEF3, ARID1B, ARMT1, BCLAF1, C6orf118, CAHM, CCDC170, CCDC28A, CCDC28A-AS1, CITED2, CLDN20, CNKSR3, CT69, DKFZp451B082, DYNLT1, ECT2L, EPM2A, EPM2A-DT, ESR1, EZR, EZR-AS1, FBXO30, FBXO5, FILNC1, FNDC1, FNDC1-AS1, FNDC1-IT1, FUCA2, GINM1, GJE1, GRM1, GTF2H5, HBS1L, HEBP2, HECA, HIVEP2, HYMAI, IFNGR1, IGF2R, IL20RA, IL22RA2, IPCEF1, IYD, KATNA1, LATS1, LINC01010, LINC01277, LINC01312, LINC01625, LINC02524, LINC02529, LINC02539, LINC02840, LINC02865, LINC02901, LINC02919, LINC02941, LINC03002, LINC03004, LOC101928373, LOC102723690, LOC102723831, LOC102724087, LOC102724152, LOC103352541, LOC105378052, LOC105378066, LOC105378068, LOC105378073, LOC105378098, LOC107403234, LOC108169207, LOC108281144, LOC108348020, LOC110121073, LOC110121075, LOC110121174, LOC110121225, LOC110121231, LOC111413038, LOC111413040, LOC111589214, LOC111828525, LOC111828526, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113146419, LOC113146422, LOC113146423, LOC113146426, LOC113174971, LOC113174972, LOC113174973, LOC114004398, LOC114827845, LOC115308161, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC116183075, LOC116183076, LOC116183077, LOC121132708, LOC121132709, LOC121132710, LOC121132711, LOC121132712, LOC121132713, LOC121132714, LOC121132715, LOC121132716, LOC121740667, LOC121740668, LOC121740669, LOC121740670, LOC121740671, LOC121740672, LOC123864072, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC123864087, LOC123864088, LOC123864089, LOC123864090, LOC123864091, LOC123864092, LOC123864093, LOC123864094, LOC123864095, LOC123864096, LOC123881324, LOC123881325, LOC123881326, LOC123881327, LOC123881328, LOC123881329, LOC123881330, LOC123881331, LOC123881332, LOC123881333, LOC123881334, LOC123881335, LOC123881336, LOC123881337, LOC123881338, LOC123881339, LOC123881340, LOC123881341, LOC123881342, LOC123881343, LOC123881344, LOC123881345, LOC123881346, LOC123881347, LOC123881348, LOC123881349, LOC123881350, LOC123881351, LOC123881352, LOC123881353, LOC123881354, LOC123881355, LOC123881356, LOC123881357, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC124900217, LOC126859797, LOC126859798, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC126859812, LOC126859813, LOC126859814, LOC126859815, LOC126859816, LOC126859817, LOC126859818, LOC126859819, LOC126859820, LOC126859821, LOC126859822, LOC126859823, LOC126859824, LOC126859825, LOC126859826, LOC126859827, LOC126859828, LOC126859829, LOC126859830, LOC126859831, LOC126859832, LOC126859833, LOC126859834, LOC126859835, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC126859841, LOC126859842, LOC126859843, LOC126859844, LOC126859845, LOC126859846, LOC126859847, LOC126859848, LOC126859849, LOC126859850, LOC126859851, LOC126859852, LOC126859853, LOC126859854, LOC126859855, LOC126859856, LOC126859857, LOC126859858, LOC126859859, LOC126859860, LOC126859861, LOC126859862, LOC126859863, LOC126859864, LOC126859865, LOC126859866, LOC126859867, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC128092253, LOC128669075, LOC153910, LOC645967, LPA, LRP11, LTV1, LUADT1, MAP3K4, MAP3K4-AS1, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP7, MAS1, MEAT6, MIR1202, MIR12131, MIR1273C, MIR3145, MIR3662, MIR3668, MIR3692, MIR3918, MIR4465, MIR4466, MIR548A2, MIR7161, MRPL18, MTFR2, MTHFD1L, MTRF1L, MYB, MYCT1, NHEG1, NHSL1, NHSL1-AS1, NMBR, NOX3, NUP43, OLIG3, OPRM1, PACRG, PACRG-AS1, PACRG-AS2, PACRG-AS3, PBOV1, PCMT1, PDE10A, PDE7B, PDE7B-AS1, PERP, PEX3, PEX7, PHACTR2, PHACTR2-AS1, PLAGL1, PLEKHG1, PLG, PNLDC1, PPIL4, PPP1R14C, PRKN, QKI, RAB32, RAET1E, RAET1E-AS1, RAET1E-LRP11, RAET1G, RAET1L, REPS1, RGS17, RMND1, RSPH3, SAMD5, SASH1, SCAF8, SERAC1, SF3B5, SGK1, SHPRH, SIMALR, SLC22A1, SLC22A2, SLC22A3, SLC2A12, SLC35D3, SMIM28, SNORA116, SNORA20, SNORA29, SNORA98, SNORD28B, SNX9, SNX9-AS1, SOD2, SOD2-OT1, STX11, STXBP5, STXBP5-AS1, SUMO4, SYNE1, SYNE1-AS1, SYNJ2, SYNJ2-IT1, SYTL3, TAB2, TAB2-AS1, TAGAP, TAGAP-AS1, TARID, TBPL1, TCF21, TCP1, TFB1M, TIAM2, TMEM181, TMEM242, TNFAIP3, TRL-TAA1-1, TRQ-TTG4-1, TULP4, TXLNB, ULBP1, ULBP2, ULBP3, UST, UST-AS1, UST-AS2, UTRN, VIP, VTA1, WAKMAR2, WTAP, ZBTB2, ZC2HC1B, ZC3H12D, ZDHHC14		See cases	Pathogenic (Jun 4, 2013)	no assertion criteria provided
Select item 16846443.	Single allele GRCh38: Chr6:134838331-142160056	HECA, IFNGR1, LOC123864080, LOC123864081, PBOV1, PDE7B, PEX7, REPS1, TNFAIP3, TXLNB, VTA1, LOC123864082, LOC123864083, LOC123864084, LOC126859804, LOC126859805, LOC126859806, LOC128669075, MAP3K5, LOC123864085, LOC123864086, LOC124900217, LOC126859802, LOC126859803, LINC01625, LINC02524, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC126859799, LOC126859800, LOC126859801, PDE7B-AS1, PERP, SIMALR, SLC35D3, SMIM28, WAKMAR2, LOC113146415, LOC113146417, LOC113146418, IL20RA, IL22RA2, LINC02539, LINC02865, LINC02941, LINC03004, LOC101928373, LOC102723690, LOC103352541, LOC108169207, LOC110121073, LOC110121174, LOC111413040, ABRACL, AHI1, AHI1-DT, ALDH8A1, ARFGEF3, BCLAF1, CCDC28A, CCDC28A-AS1, LOC111589214, CITED2, ECT2L, FILNC1, GJE1, HBS1L, HEBP2, LOC113146419, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132708, LOC121740667, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, MAP3K5-AS1, MAP3K5-AS2, MAP7, MIR3145, MIR3662, MIR3668, MIR4465, MIR548A2, MTFR2, MYB, NHEG1, NHSL1, NHSL1-AS1, NMBR, OLIG3		Autoinflammatory syndrome, familial, Behcet-like	Pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 584464.	GRCh38/hg38 6q23.3(chr6:135249940-136439720)x1 GRCh37: Chr6:135571078-136760858 GRCh38: Chr6:135249940-136439720	AHI1, AHI1-DT, BCLAF1, LINC02524, LOC101928373, LOC110121073, LOC123864074, LOC123864075, LOC123864076, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC128669075, MAP7, MTFR2, PDE7B, PDE7B-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 9038815.	NM_001134831.2(AHI1):c.*1684T>C GRCh37: Chr6:135605099 GRCh38: Chr6:135283961	AHI1		Joubert syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3554796.	NM_001134831.2(AHI1):c.*1646T>C GRCh37: Chr6:135605137 GRCh38: Chr6:135283999	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9038827.	NM_001134831.2(AHI1):c.*1568A>T GRCh37: Chr6:135605215 GRCh38: Chr6:135284077	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3554808.	NM_001134831.2(AHI1):c.*1426A>T GRCh37: Chr6:135605357 GRCh38: Chr6:135284219	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9038839.	NM_001134831.2(AHI1):c.*1404A>G GRCh37: Chr6:135605379 GRCh38: Chr6:135284241	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90388410.	NM_001134831.2(AHI1):c.*1327C>T GRCh37: Chr6:135605456 GRCh38: Chr6:135284318	AHI1		Joubert syndrome 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 35548111.	NM_001134831.2(AHI1):c.*1317A>G GRCh37: Chr6:135605466 GRCh38: Chr6:135284328	AHI1		Joubert syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35548212.	NM_001134831.2(AHI1):c.*1288T>C GRCh37: Chr6:135605495 GRCh38: Chr6:135284357	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90576713.	NM_001134831.2(AHI1):c.*1146T>A GRCh37: Chr6:135605637 GRCh38: Chr6:135284499	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35548314.	NM_001134831.2(AHI1):c.*1116TAT[1] GRCh37: Chr6:135605662-135605664 GRCh38: Chr6:135284524-135284526	AHI1		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35548415.	NM_001134831.2(AHI1):c.*1051ATTT[1] GRCh37: Chr6:135605725-135605728 GRCh38: Chr6:135284587-135284590	AHI1		Familial aplasia of the vermis	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 90576816.	NM_001134831.2(AHI1):c.*981C>T GRCh37: Chr6:135605802 GRCh38: Chr6:135284664	AHI1		Joubert syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35548517.	NM_001134831.2(AHI1):c.*793A>G GRCh37: Chr6:135605990 GRCh38: Chr6:135284852	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35548618.	NM_001134831.2(AHI1):c.*588A>G GRCh37: Chr6:135606195 GRCh38: Chr6:135285057	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35548719.	NM_001134831.2(AHI1):c.500_504del GRCh37: Chr6:135606279-135606283 GRCh38: Chr6:135285141-135285145	AHI1		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90576920.	NM_001134831.2(AHI1):c.*484G>A GRCh37: Chr6:135606299 GRCh38: Chr6:135285161	AHI1		Joubert syndrome 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 35548821.	NM_001134831.2(AHI1):c.*447T>A GRCh37: Chr6:135606336 GRCh38: Chr6:135285198	AHI1		Familial aplasia of the vermis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35548922.	NM_001134831.2(AHI1):c.396_397dup GRCh37: Chr6:135606385-135606386 GRCh38: Chr6:135285247-135285248	AHI1		Familial aplasia of the vermis	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35549023.	NM_001134831.2(AHI1):c.*387T>G GRCh37: Chr6:135606396 GRCh38: Chr6:135285258	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90577024.	NM_001134831.2(AHI1):c.*246T>C GRCh37: Chr6:135606537 GRCh38: Chr6:135285399	AHI1		Joubert syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35549125.	NM_001134831.2(AHI1):c.*218C>T GRCh37: Chr6:135606565 GRCh38: Chr6:135285427	AHI1		not provided, Joubert syndrome 3	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 90628026.	NM_001134831.2(AHI1):c.*216G>A GRCh37: Chr6:135606567 GRCh38: Chr6:135285429	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35549227.	NM_001134831.2(AHI1):c.*110G>A GRCh37: Chr6:135606673 GRCh38: Chr6:135285535	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35549328.	NM_001134831.2(AHI1):c.*80C>T GRCh37: Chr6:135606703 GRCh38: Chr6:135285565	AHI1		Joubert syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35549429.	NM_001134831.2(AHI1):c.*68C>T GRCh37: Chr6:135606715 GRCh38: Chr6:135285577	AHI1		Joubert syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 26083530.	NM_001134831.2(AHI1):c.*28G>C GRCh37: Chr6:135606755 GRCh38: Chr6:135285617	AHI1		not provided, not specified, Joubert syndrome 3	Benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 147624831.	NM_001134831.2(AHI1):c.3589-3C>T GRCh37: Chr6:135606788 GRCh38: Chr6:135285650	AHI1		Familial aplasia of the vermis	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 165208932.	NM_001134831.2(AHI1):c.3589-5dup GRCh37: Chr6:135606789-135606790 GRCh38: Chr6:135285651-135285652	AHI1		Familial aplasia of the vermis	Likely benign (Nov 21, 2020)	criteria provided, single submitter
Select item 21947633.	NM_001134831.2(AHI1):c.3589-5T>C GRCh37: Chr6:135606790 GRCh38: Chr6:135285652	AHI1		not provided	Likely benign (Jul 29, 2015)	criteria provided, single submitter
Select item 202371334.	NM_001134831.2(AHI1):c.3589-14A>T GRCh37: Chr6:135606799 GRCh38: Chr6:135285661	AHI1		Familial aplasia of the vermis	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 199711735.	NM_001134831.2(AHI1):c.3589-14A>G GRCh37: Chr6:135606799 GRCh38: Chr6:135285661	AHI1		Familial aplasia of the vermis	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 68154236.	NM_001134831.2(AHI1):c.3589-16G>A GRCh37: Chr6:135606801 GRCh38: Chr6:135285663	AHI1		Familial aplasia of the vermis, not provided	Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 67506437.	NM_001134831.2(AHI1):c.3589-106A>G GRCh37: Chr6:135606891 GRCh38: Chr6:135285753	AHI1		not provided	Benign (Jun 16, 2018)	criteria provided, single submitter
Select item 68002038.	NM_001134831.2(AHI1):c.3589-209G>A GRCh37: Chr6:135606994 GRCh38: Chr6:135285856	AHI1		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter
Select item 126927739.	NM_001134831.2(AHI1):c.3588+210G>A GRCh37: Chr6:135611351 GRCh38: Chr6:135290213	AHI1		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 203332340.	NM_001134831.2(AHI1):c.3588+18A>T GRCh37: Chr6:135611543 GRCh38: Chr6:135290405	AHI1		Familial aplasia of the vermis	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 213116141.	NM_001134831.2(AHI1):c.3588+16A>G GRCh37: Chr6:135611545 GRCh38: Chr6:135290407	AHI1		Familial aplasia of the vermis	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 163667342.	NM_001134831.2(AHI1):c.3588+15A>T GRCh37: Chr6:135611546 GRCh38: Chr6:135290408	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211099343.	NM_001134831.2(AHI1):c.3588+9A>G GRCh37: Chr6:135611552 GRCh38: Chr6:135290414	AHI1		Familial aplasia of the vermis	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 138993644.	NM_001134831.2(AHI1):c.3588+2T>A GRCh37: Chr6:135611559 GRCh38: Chr6:135290421	AHI1		Familial aplasia of the vermis	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 83949045.	NM_001134831.2(AHI1):c.3588+1G>A GRCh37: Chr6:135611560 GRCh38: Chr6:135290422	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100012346.	NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) GRCh37: Chr6:135611561 GRCh38: Chr6:135290423	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143949347.	NM_001134831.2(AHI1):c.3586G>A (p.Glu1196Lys) GRCh37: Chr6:135611563 GRCh38: Chr6:135290425	AHI1	E1196K	Familial aplasia of the vermis	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 84204148.	NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) GRCh37: Chr6:135611566 GRCh38: Chr6:135290428	AHI1	I1195V	Inborn genetic diseases, not provided, Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 155081449.	NM_001134831.2(AHI1):c.3582A>G (p.Leu1194=) GRCh37: Chr6:135611567 GRCh38: Chr6:135290429	AHI1		Familial aplasia of the vermis	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 19603650.	NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) GRCh37: Chr6:135611570 GRCh38: Chr6:135290432	AHI1		not specified, not provided, Joubert syndrome 3, Familial aplasia of the vermis	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102508451.	NM_001134831.2(AHI1):c.3578C>G (p.Thr1193Ser) GRCh37: Chr6:135611571 GRCh38: Chr6:135290433	AHI1	T1193S	Familial aplasia of the vermis	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 209666652.	NM_001134831.2(AHI1):c.3577A>G (p.Thr1193Ala) GRCh37: Chr6:135611572 GRCh38: Chr6:135290434	AHI1	T1193A	Familial aplasia of the vermis	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 164588653.	NM_001134831.2(AHI1):c.3564A>G (p.Ala1188=) GRCh37: Chr6:135611585 GRCh38: Chr6:135290447	AHI1		Familial aplasia of the vermis	Likely benign (Oct 28, 2020)	criteria provided, single submitter
Select item 216746054.	NM_001134831.2(AHI1):c.3546G>C (p.Met1182Ile) GRCh37: Chr6:135611603 GRCh38: Chr6:135290465	AHI1	M1182I	Familial aplasia of the vermis	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 28668055.	NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile) GRCh37: Chr6:135611603 GRCh38: Chr6:135290465	AHI1	M1182I	not provided, not specified, Familial aplasia of the vermis	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158013556.	NM_001134831.2(AHI1):c.3543G>A (p.Arg1181=) GRCh37: Chr6:135611606 GRCh38: Chr6:135290468	AHI1		Familial aplasia of the vermis	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 35549557.	NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) GRCh37: Chr6:135611607 GRCh38: Chr6:135290469	AHI1	R1181Q	Joubert syndrome 3, Inborn genetic diseases, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Dec 13, 2022)	criteria provided, conflicting interpretations
Select item 137536058.	NM_001134831.2(AHI1):c.3541C>T (p.Arg1181Trp) GRCh37: Chr6:135611608 GRCh38: Chr6:135290470	AHI1	R1181W	Familial aplasia of the vermis	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 51261659.	NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) GRCh37: Chr6:135611614 GRCh38: Chr6:135290476	AHI1	D1179Y	Joubert syndrome 3, not provided, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 161016560.	NM_001134831.2(AHI1):c.3504A>G (p.Glu1168=) GRCh37: Chr6:135611645 GRCh38: Chr6:135290507	AHI1		Familial aplasia of the vermis	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 38893561.	NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) GRCh37: Chr6:135611646 GRCh38: Chr6:135290508	AHI1	E1168G	Familial aplasia of the vermis, not specified, Joubert syndrome 3	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 111203662.	NM_001134831.2(AHI1):c.3498A>G (p.Arg1166=) GRCh37: Chr6:135611651 GRCh38: Chr6:135290513	AHI1		Familial aplasia of the vermis	Likely benign (Feb 22, 2020)	criteria provided, single submitter
Select item 99986063.	NM_001134831.2(AHI1):c.3491A>C (p.Glu1164Ala) GRCh37: Chr6:135611658 GRCh38: Chr6:135290520	AHI1	E1164A	Familial aplasia of the vermis	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 147816264.	NM_001134831.2(AHI1):c.3486-3T>C GRCh37: Chr6:135611666 GRCh38: Chr6:135290528	AHI1		Familial aplasia of the vermis	Uncertain significance (Feb 4, 2021)	criteria provided, single submitter
Select item 35549665.	NM_001134831.2(AHI1):c.3486-4A>G GRCh37: Chr6:135611667 GRCh38: Chr6:135290529	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 244309766.	NM_001134831.2(AHI1):c.3486-10C>T GRCh37: Chr6:135611673 GRCh38: Chr6:135290535	AHI1		not specified	Uncertain significance (Jun 14, 2022)	no assertion criteria provided
Select item 126630767.	NM_001134831.2(AHI1):c.3485+174del GRCh37: Chr6:135621464 GRCh38: Chr6:135300326	AHI1		not provided	Benign (Aug 11, 2019)	criteria provided, single submitter
Select item 124834268.	NM_001134831.2(AHI1):c.3485+159_3485+161del GRCh37: Chr6:135621477-135621479 GRCh38: Chr6:135300339-135300341	AHI1		not provided	Benign (Aug 21, 2019)	criteria provided, single submitter
Select item 119053469.	NM_001134831.2(AHI1):c.3485+159_3485+160del GRCh37: Chr6:135621478-135621479 GRCh38: Chr6:135300340-135300341	AHI1		not provided	Likely benign (Aug 23, 2019)	criteria provided, single submitter
Select item 129364770.	NM_001134831.2(AHI1):c.3485+159del GRCh37: Chr6:135621479 GRCh38: Chr6:135300341	AHI1		not provided	Benign (Sep 30, 2019)	criteria provided, single submitter
Select item 126075071.	NM_001134831.2(AHI1):c.3485+159C>T GRCh37: Chr6:135621479 GRCh38: Chr6:135300341	AHI1		not provided	Benign (Aug 21, 2019)	criteria provided, single submitter
Select item 26085972.	NM_001134831.2(AHI1):c.3485+43G>C GRCh37: Chr6:135621595 GRCh38: Chr6:135300457	AHI1		not provided, not specified	Likely benign (Nov 2, 2020)	criteria provided, multiple submitters, no conflicts
Select item 26085873.	NM_001134831.2(AHI1):c.3485+38G>C GRCh37: Chr6:135621600 GRCh38: Chr6:135300462	AHI1		not provided, not specified	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 159069074.	NM_001134831.2(AHI1):c.3485+16A>G GRCh37: Chr6:135621622 GRCh38: Chr6:135300484	AHI1		Familial aplasia of the vermis	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 26085775.	NM_001134831.2(AHI1):c.3485+13_3485+15del GRCh37: Chr6:135621623-135621625 GRCh38: Chr6:135300485-135300487	AHI1		not specified, Familial aplasia of the vermis	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151732876.	NM_001134831.2(AHI1):c.3485+6C>T GRCh37: Chr6:135621632 GRCh38: Chr6:135300494	AHI1		Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144373977.	NM_001134831.2(AHI1):c.3480G>A (p.Met1160Ile) GRCh37: Chr6:135621643 GRCh38: Chr6:135300505	AHI1	M1160I	Familial aplasia of the vermis	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 85697578.	NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) GRCh37: Chr6:135621645 GRCh38: Chr6:135300507	AHI1	M1160V	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193442579.	NM_001134831.2(AHI1):c.3467G>T (p.Gly1156Val) GRCh37: Chr6:135621656 GRCh38: Chr6:135300518	AHI1	G1156V	Familial aplasia of the vermis	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 80999580.	NM_001134831.2(AHI1):c.3453G>C (p.Gln1151His) GRCh37: Chr6:135621670 GRCh38: Chr6:135300532	AHI1	Q1151H	not provided	Uncertain significance (Jun 1, 2019)	criteria provided, single submitter
Select item 142414881.	NM_001134831.2(AHI1):c.3448T>A (p.Ser1150Thr) GRCh37: Chr6:135621675 GRCh38: Chr6:135300537	AHI1	S1150T	Familial aplasia of the vermis	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 205586982.	NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg) GRCh37: Chr6:135621683 GRCh38: Chr6:135300545	AHI1	K1147R	Familial aplasia of the vermis, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 7, 2023)	criteria provided, conflicting interpretations
Select item 202834983.	NM_001134831.2(AHI1):c.3438_3439insC (p.Lys1147fs) GRCh37: Chr6:135621684-135621685 GRCh38: Chr6:135300546-135300547	AHI1	K1147fs	Familial aplasia of the vermis	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 59126884.	NM_001134831.2(AHI1):c.3435_3438del (p.Asn1146fs) GRCh37: Chr6:135621685-135621688 GRCh38: Chr6:135300547-135300550	AHI1	N1146fs	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 250416685.	NM_001134831.2(AHI1):c.3437A>G (p.Asn1146Ser) GRCh37: Chr6:135621686 GRCh38: Chr6:135300548	AHI1	N1146S	See cases	Uncertain significance (Mar 20, 2023)	criteria provided, single submitter
Select item 101408086.	NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) GRCh37: Chr6:135621690 GRCh38: Chr6:135300552	AHI1	I1145V	Joubert syndrome 3, Familial aplasia of the vermis	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209307687.	NM_001134831.2(AHI1):c.3432A>G (p.Ser1144=) GRCh37: Chr6:135621691 GRCh38: Chr6:135300553	AHI1		Familial aplasia of the vermis	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 108179488.	NM_001134831.2(AHI1):c.3427-8_3427-6del GRCh37: Chr6:135621702-135621704 GRCh38: Chr6:135300564-135300566	AHI1		Familial aplasia of the vermis, not provided	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212182789.	NM_001134831.2(AHI1):c.3427-8T>G GRCh37: Chr6:135621704 GRCh38: Chr6:135300566	AHI1		Familial aplasia of the vermis	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 216210190.	NM_001134831.2(AHI1):c.3427-14C>T GRCh37: Chr6:135621710 GRCh38: Chr6:135300572	AHI1		Familial aplasia of the vermis	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 129628591.	NM_001134831.2(AHI1):c.3427-276dup GRCh37: Chr6:135621954-135621955 GRCh38: Chr6:135300816-135300817	AHI1		not provided	Benign (Aug 5, 2019)	criteria provided, single submitter
Select item 121843192.	NM_001134831.2(AHI1):c.3427-276_3427-274dup GRCh37: Chr6:135621954-135621955 GRCh38: Chr6:135300816-135300817	AHI1		not provided	Likely benign (Mar 1, 2020)	criteria provided, single submitter
Select item 119283593.	NM_001134831.2(AHI1):c.3427-259del GRCh37: Chr6:135621955 GRCh38: Chr6:135300817	AHI1		not provided	Likely benign (Sep 1, 2019)	criteria provided, single submitter
Select item 120070994.	NM_001134831.2(AHI1):c.3426+68C>A GRCh37: Chr6:135639589 GRCh38: Chr6:135318451	AHI1		not provided	Likely benign (Jul 31, 2018)	criteria provided, single submitter
Select item 217974595.	NM_001134831.2(AHI1):c.3426+18T>C GRCh37: Chr6:135639639 GRCh38: Chr6:135318501	AHI1		Familial aplasia of the vermis	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 9575796.	NM_001134831.2(AHI1):c.3426+13G>A GRCh37: Chr6:135639644 GRCh38: Chr6:135318506	AHI1		not specified, not provided, Familial aplasia of the vermis, Joubert syndrome 3	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161886997.	NM_001134831.2(AHI1):c.3426+12T>C GRCh37: Chr6:135639645 GRCh38: Chr6:135318507	AHI1		Familial aplasia of the vermis	Likely benign (Mar 27, 2021)	criteria provided, single submitter
Select item 146769398.	NM_001134831.2(AHI1):c.3426+6T>A GRCh37: Chr6:135639651 GRCh38: Chr6:135318513	AHI1		Familial aplasia of the vermis, Joubert syndrome 3	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203273699.	NM_001134831.2(AHI1):c.3426+2T>C GRCh37: Chr6:135639655 GRCh38: Chr6:135318517	AHI1		Familial aplasia of the vermis	Likely pathogenic (Jun 4, 2022)	criteria provided, single submitter
Select item 216697100.	NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) GRCh37: Chr6:135639665 GRCh38: Chr6:135318527	AHI1	P1140S	not provided, not specified, Familial aplasia of the vermis, Joubert syndrome 3	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations

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