| - GRCh37:
- Chr6:50938895-57297586
- GRCh38:
- Chr6:50971182-57432788
| BAG2, BEND6, BMP5, CILK1, COL21A1, DST, DST-AS1, EFHC1, ELOVL5, FAM83B, FBXO9, GCLC, GCLC-AS1, GCM1, GFRAL, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, HCRTR2, HMGCLL1, IL17A, IL17F, KIAA1586, KILH, KLHL31, LINC01564, LINC03001, LINCMD1, LOC101927082, LOC101927189, LOC110120617, LOC110121250, LOC111365194, LOC113175006, LOC113175007, LOC121132688, LOC121132689, LOC121740649, LOC121740650, LOC121740651, LOC121740652, LOC121740653, LOC123744820, LOC123744821, LOC123744822, LOC123744823, LOC123744824, LOC123744825, LOC123744826, LOC123744827, LOC123744828, LOC123744829, LOC123744830, LOC123744831, LOC126859690, LOC126859691, LOC126859692, LOC126859693, LOC126859694, LOC126859695, LOC126859696, LOC126859697, LOC126859698, LOC128031835, LOC128092246, LOC129389539, LOC129389540, LOC129389541, LOC129389542, LOC129389543, LOC129389544, LOC129389545, LOC129996608, LOC129996609, LOC129996610, LOC129996611, LOC129996612, LOC129996613, LOC129996614, LOC129996615, LOC129996616, LOC129996617, LOC129996618, LOC129996619, LOC129996620, LOC129996621, LOC129996622, LOC129996623, LOC129996624, LOC129996625, LOC129996626, LOC129996627, LOC129996628, LOC129996629, LOC129996630, LOC129996631, LOC129996632, LOC129996633, LOC129996634, LOC129996635, LOC129996636, LOC129996637, LOC129996638, LOC129996639, LOC129996640, LOC129996641, LOC129996642, LOC129996643, LOC129996644, LOC129996645, LOC129996646, LOC129996647, LOC129996648, LOC129996649, LOC129996650, LOC129996651, LOC129996652, LOC129996653, LOC129996654, LOC129996655, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC129996667, LOC132089399, LOC132089400, LOC132089401, LOC132089402, LOC132089403, LOC132089404, LOC132089405, LOC132089406, LOC132089407, LOC132089408, LOC132089409, LOC132089410, LOC132089411, LOC132089412, LOC132089413, LOC132090755, LOC132090756, LOC132090757, LOC730101, LRRC1, MCM3, MIR133B, MIR206, MIR548U, MIR5685, MLIP, MLIP-AS1, MLIP-IT1, PAQR8, PKHD1, PRIM2, RAB23, RN7SK, TINAG, TMEM14A, TRAM2, TRAM2-AS1, ZNF451, ZNF451-AS1 | | See cases | Pathogenic
(Dec 22, 2010) | no assertion criteria provided |
| - GRCh38:
- Chr6:53151508-58400428
| BAG2, BEND6, BMP5, COL21A1, DST, DST-AS1, ELOVL5, FAM83B, GCLC, GCLC-AS1, GFRAL, HCRTR2, HMGCLL1, KIAA1586, KILH, KLHL31, LINC00680, LINC01564, LINC03001, LOC101927189, LOC101927293, LOC113175007, LOC121132689, LOC121740652, LOC121740653, LOC123744825, LOC123744826, LOC123744827, LOC123744828, LOC123744829, LOC123744830, LOC123744831, LOC126088080, LOC126859694, LOC126859695, LOC126859696, LOC126859697, LOC126859698, LOC129389544, LOC129389545, LOC129996644, LOC129996645, LOC129996646, LOC129996647, LOC129996648, LOC129996649, LOC129996650, LOC129996651, LOC129996652, LOC129996653, LOC129996654, LOC129996655, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC129996667, LOC129996668, LOC129996669, LOC132089408, LOC132089409, LOC132089410, LOC132089411, LOC132089412, LOC132089413, LOC132090757, LRRC1, MIR548U, MIR5685, MLIP, MLIP-AS1, MLIP-IT1, PRIM2, RAB23, TINAG, TRA-AGC12-3, TRA-AGC13-2, TRA-AGC16-1, TRA-AGC24-1, TRI-AAT1-1, TRM-CAT7-1, ZNF451, ZNF451-AS1 | | Orofacial cleft | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr6:53796341-68859642
- GRCh38:
- Chr6:53931543-68149750
| BAG2, BEND6, BMP5, COL21A1, DST, DST-AS1, ERVH-3, EYS, FAM83B, FKBP1C, GFRAL, HCRTR2, HMGCLL1, KHDRBS2, KIAA1586, LGSN, LINC00680, LINC03001, LOC101927189, LOC101927293, LOC102723883, LOC111365145, LOC113175010, LOC113175011, LOC113175012, LOC121132689, LOC121132690, LOC121132691, LOC121740653, LOC121740654, LOC123744829, LOC123744830, LOC123744831, LOC123744832, LOC123744833, LOC123744834, LOC123744835, LOC123744836, LOC123744837, LOC126088080, LOC126088089, LOC126088090, LOC126859696, LOC126859697, LOC126859698, LOC126859699, LOC126859700, LOC126859701, LOC126859702, LOC126859703, LOC128125822, LOC129389544, LOC129389545, LOC129389546, LOC129389547, LOC129389548, LOC129389549, LOC129389550, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC129996667, LOC129996668, LOC129996669, LOC129996670, LOC129996671, LOC129996672, LOC129996673, LOC129996674, LOC129996675, LOC129996676, LOC129996677, LOC129996678, LOC129996679, LOC129996680, LOC129996681, LOC129996682, LOC129996683, LOC129996684, LOC132089410, LOC132089411, LOC132089412, LOC132089413, LOC132089414, LOC132089415, LOC132089416, LOC132089417, LOC132089418, LOC132089419, LOC132089420, LOC132089421, LOC132089422, LOC132089423, LOC132089424, LOC132089425, LOC132089426, LOC132089427, LOC132089428, LOC132089429, LOC132089430, LOC132089431, LOC132089432, LOC132089433, LOC132089434, LOC132089435, LOC132089436, LOC132089437, LOC132089438, LOC132089439, LOC132089440, LOC132089441, LOC132089442, LOC132089443, LOC132089444, LOC132090757, LOC132090758, LOC132090759, LOC132090760, LOC132090761, LOC132205963, LOC132205964, MIR548U, MLIP, MLIP-AS1, MLIP-IT1, MTRNR2L9, PHF3, PRIM2, PTP4A1, RAB23, SCAT8, TINAG, TRA-AGC12-3, TRA-AGC13-2, TRA-AGC16-1, TRA-AGC24-1, TRI-AAT1-1, TRM-CAT7-1, ZC3H11C, ZNF451, ZNF451-AS1 | | See cases | Pathogenic
(Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr6:54128691-56691435
- GRCh38:
- Chr6:54263893-56826637
| BMP5, COL21A1, DST, FAM83B, GFRAL, HCRTR2, HMGCLL1, LOC121132689, LOC121740653, LOC123744829, LOC129389544, LOC129389545, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC132089410, LOC132089411, MLIP, TINAG | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56177722-57171010
- GRCh38:
- Chr6:56312924-57306212
| BAG2, BEND6, COL21A1, DST, DST-AS1, KIAA1586, LINC03001, LOC123744830, LOC123744831, LOC126859698, LOC129389544, LOC129389545, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC132089412, LOC132089413, LOC132090757, PRIM2, RAB23, ZNF451, ZNF451-AS1 | | See cases | Uncertain significance
(Dec 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr6:56323550
- GRCh38:
- Chr6:56458752
| DST | | not provided | Likely benign
(Mar 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323793-56507596
- GRCh38:
- Chr6:56458995-56642798
| DST, LOC129389544, LOC129996656 | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Nov 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323822
- GRCh38:
- Chr6:56459024
| DST | D5166fs, D5370fs, D5486fs, D5492fs, D5532fs, D5670fs, D7456fs, D7789fs, D7798fs, D7813fs | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323823
- GRCh38:
- Chr6:56459025
| DST | D5166N, D5492N, D5532N, D5370N, D7456N, D5670N, D7798N, D7813N, D7789N | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323825
- GRCh38:
- Chr6:56459027
| DST | L5369W, L5485W, L5491W, L5531W, L5669W, L7455W, L7788W, L7797W, L7812W, L5165W | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323827
- GRCh38:
- Chr6:56459029
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323828
- GRCh38:
- Chr6:56459030
| DST | K5368R, K5490R, K5530R, K7454R, K7787R, K7811R, K5164R, K7796R, K5668R | Inborn genetic diseases, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6
| Uncertain significance
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56323831-56323832
- GRCh38:
- Chr6:56459033-56459034
| DST | S5667P, S5367P, S5483P, S5489P, S7786P, S7795P, S7453P, S5163P, S5529P, S7810P | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323834
- GRCh38:
- Chr6:56459036
| DST | A5482D, A7785D, A5162D, A5366D, A5528D, A7452D, A7794D, A7809D, A5488D, A5666D | Inborn genetic diseases | Uncertain significance
(Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323835
- GRCh38:
- Chr6:56459037
| DST | A7452P, A7794P, A5366P, A5482P, A5528P, A5666P, A5162P, A7785P, A7809P, A5488P | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323845
- GRCh38:
- Chr6:56459047
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Likely benign
(May 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323854
- GRCh38:
- Chr6:56459056
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323855
- GRCh38:
- Chr6:56459057
| DST | T7778M, T5155M, T5481M, T5521M, T5659M, T7445M, T7787M, T5359M, T7802M | Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency,
not provided | Uncertain significance
(Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56323858
- GRCh38:
- Chr6:56459060
| DST | P5154L, P5658L, P5480L, P5520L, P5358L, P5474L, P7444L, P7777L, P7786L, P7801L | Hereditary sensory and autonomic neuropathy type 6 | Likely pathogenic
(Oct 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323875
- GRCh38:
- Chr6:56459077
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Feb 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323899
- GRCh38:
- Chr6:56459101
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323900
- GRCh38:
- Chr6:56459102
| DST | R5344Q, R7763Q, R5460Q, R5466Q, R7787Q, R5506Q, R5644Q, R7772Q, R5140Q, R7430Q | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6, Inborn genetic diseases
| Uncertain significance
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56323907
- GRCh38:
- Chr6:56459109
| DST | T5458S, T7770S, T5138S, T5642S, T7785S, T5464S, T5504S, T5342S, T7428S, T7761S | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Jan 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323912
- GRCh38:
- Chr6:56459114
| DST | R7426T, R7783T, R5462T, R5502T, R5136T, R7759T, R7768T, R5340T, R5456T, R5640T | Inborn genetic diseases | Uncertain significance
(Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323926
- GRCh38:
- Chr6:56459128
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Jul 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323939
- GRCh38:
- Chr6:56459141
| DST | D5447A, D7750A, D5453A, D7774A, D5127A, D5331A, D5493A, D5631A, D7417A, D7759A | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Aug 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323949
- GRCh38:
- Chr6:56459151
| DST | V5124M, V5328M, V5444M, V5450M, V5490M, V5628M, V7414M, V7747M, V7756M, V7771M | Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
| Uncertain significance
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56323950
- GRCh38:
- Chr6:56459152
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Sep 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323954
- GRCh38:
- Chr6:56459156
| DST | Q7412L, Q5122L, Q5326L, Q7745L, Q7754L, Q5448L, Q7769L, Q5442L, Q5488L, Q5626L | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323956
- GRCh38:
- Chr6:56459158
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56323996
- GRCh38:
- Chr6:56459198
| DST | R5108H, R5434H, R7398H, R7731H, R5428H, R5474H, R7755H, R5312H, R5612H, R7740H | Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
| Uncertain significance
(Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56323997
- GRCh38:
- Chr6:56459199
| DST | R5108C, R5312C, R5428C, R5434C, R5474C, R5612C, R7398C, R7731C, R7740C, R7755C | Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
| Uncertain significance
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56324010
- GRCh38:
- Chr6:56459212
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Likely benign
(May 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324026
- GRCh38:
- Chr6:56459228
| DST | G5424E, G5602E, G7721E, G7745E, G5418E, G5302E, G5464E, G7388E, G5098E, G7730E | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324031
- GRCh38:
- Chr6:56459233
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324032
- GRCh38:
- Chr6:56459234
| DST | R5422Q, R7386Q, R7728Q, R5462Q, R5600Q, R7719Q, R5096Q, R5300Q, R7743Q | Inborn genetic diseases, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6
| Uncertain significance
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56324040
- GRCh38:
- Chr6:56459242
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324044
- GRCh38:
- Chr6:56459246
| DST | R5092Q, R5296Q, R5412Q, R5418Q, R5458Q, R5596Q, R7382Q, R7715Q, R7724Q, R7739Q | not provided | Uncertain significance
(Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324045
- GRCh38:
- Chr6:56459247
| DST | R5092*, R5296*, R5412*, R5418*, R5458*, R5596*, R7382*, R7715*, R7724*, R7739* | not provided | Uncertain significance
(Jan 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324055
- GRCh38:
- Chr6:56459257
| DST | K5592N, K7720N, K5454N, K7711N, K5088N, K7378N, K7735N, K5292N, K5414N | Inborn genetic diseases, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56324059
- GRCh38:
- Chr6:56459261
| DST | K5413M, K7377M, K5087M, K5453M, K7710M, K5291M, K5591M, K7719M, K7734M | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Feb 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324065
- GRCh38:
- Chr6:56459267
| DST | D7717V, D5085V, D5411V, D5451V, D5589V, D7375V, D7732V, D5289V, D7708V | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324071
- GRCh38:
- Chr6:56459273
| DST | | Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
| Conflicting interpretations of pathogenicity
(Mar 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:56324073
- GRCh38:
- Chr6:56459275
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(May 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324081
- GRCh38:
- Chr6:56459283
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324179
- GRCh38:
- Chr6:56459381
| DST | | not provided | Benign
(Mar 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324267
- GRCh38:
- Chr6:56459469
| DST | | not provided | Likely benign
(Mar 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324910
- GRCh38:
- Chr6:56460112
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Likely benign
(Jun 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324924
- GRCh38:
- Chr6:56460126
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324924
- GRCh38:
- Chr6:56460126
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324936
- GRCh38:
- Chr6:56460138
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Benign
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324940
- GRCh38:
- Chr6:56460142
| DST | T5081I, T5285I, T5401I, T5407I, T5447I, T5585I, T7371I, T7704I, T7713I, T7728I | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324950
- GRCh38:
- Chr6:56460152
| DST | R5582G, R5398G, R5404G, R5444G, R7368G, R7701G, R7725G, R5078G, R5282G, R7710G | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324966
- GRCh38:
- Chr6:56460168
| DST | I7695M, I5438M, I5576M, I5072M, I5276M, I5392M, I5398M, I7362M, I7704M, I7719M | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324968
- GRCh38:
- Chr6:56460170
| DST | I7362L, I7719L, I5276L, I5398L, I5576L, I5072L, I5392L, I7704L, I5438L, I7695L | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324977
- GRCh38:
- Chr6:56460179
| DST | S5435G, S7701G, S5273G, S7359G, S7692G, S7716G, S5395G, S5573G, S5069G, S5389G | Inborn genetic diseases, Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency
| Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56324979
- GRCh38:
- Chr6:56460181
| DST | D5272G, D7358G, D5388G, D5434G, D7700G, D5068G, D5394G, D5572G, D7691G, D7715G | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56324982
- GRCh38:
- Chr6:56460184
| DST | E7690A, E5271A, E5571A, E5067A, E5393A, E7699A, E5387A, E5433A, E7357A, E7714A | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Sep 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325014
- GRCh38:
- Chr6:56460216
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325024
- GRCh38:
- Chr6:56460226
| DST | R5257Q, R5419Q, R5557Q, R7343Q, R5053Q, R5379Q, R7685Q, R7700Q, R5373Q, R7676Q | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325029
- GRCh38:
- Chr6:56460231
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325030
- GRCh38:
- Chr6:56460232
| DST | K5051R, K7341R, K7683R, K5255R, K5377R, K5417R, K5555R, K7698R, K7674R | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325033
- GRCh38:
- Chr6:56460235
| DST | S5254N, S5376N, S7673N, S5554N, S7682N, S7697N, S5050N, S5370N, S5416N, S7340N | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325044
- GRCh38:
- Chr6:56460246
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325047
- GRCh38:
- Chr6:56460249
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Likely benign
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325048
- GRCh38:
- Chr6:56460250
| DST | T7335M, T7677M, T5045M, T5549M, T7668M, T5365M, T5371M, T7692M, T5249M, T5411M | Inborn genetic diseases, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6
| Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56325054
- GRCh38:
- Chr6:56460256
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Likely pathogenic
(Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325056-56325057
- GRCh38:
- Chr6:56460258-56460259
| DST | | Inborn genetic diseases | Uncertain significance
(Oct 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56325070
- GRCh38:
- Chr6:56460272
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Mar 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327509-56327510
- GRCh38:
- Chr6:56462711-56462712
| DST | | not provided | Likely benign
(Mar 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327699
- GRCh38:
- Chr6:56462901
| DST | | not provided | Likely benign
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327837
- GRCh38:
- Chr6:56463039
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(May 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327849
- GRCh38:
- Chr6:56463051
| DST | A5042T, A5362T, A5368T, A5408T, A5546T, A7665T, A7674T, A7689T | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency,
Hereditary sensory and autonomic neuropathy type 6 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56327853
- GRCh38:
- Chr6:56463055
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Sep 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327854
- GRCh38:
- Chr6:56463056
| DST | P5366L, P5406L, P7663L, P7687L, P5040L, P7672L, P5360L, P5544L | Inborn genetic diseases | Uncertain significance
(Nov 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327856
- GRCh38:
- Chr6:56463058
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6, not provided
| Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56327858
- GRCh38:
- Chr6:56463060
| DST | V5039M, V5405M, V5543M, V5365M, V5359M, V7662M, V7671M, V7686M | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327859
- GRCh38:
- Chr6:56463061
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6, not provided
| Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56327879
- GRCh38:
- Chr6:56463081
| DST | A5032S, A5398S, A5536S, A5358S, A7679S, A7664S, A7655S, A5352S | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6, not specified
| Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:56327887
- GRCh38:
- Chr6:56463089
| DST | C5355Y, C5533Y, C5029Y, C5349Y, C7661Y, C7676Y, C7652Y, C5395Y | Inborn genetic diseases | Uncertain significance
(Mar 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327889
- GRCh38:
- Chr6:56463091
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Likely benign
(Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327892
- GRCh38:
- Chr6:56463094
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327898
- GRCh38:
- Chr6:56463100
| DST | M5025I, M5345I, M5529I, M7657I, M5351I, M7648I, M5391I, M7672I | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327899
- GRCh38:
- Chr6:56463101
| DST | M5351T, M5391T, M7648T, M7657T, M7672T, M5025T, M5345T, M5529T | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327917
- GRCh38:
- Chr6:56463119
| DST | W5345S, W5019S, W5385S, W7651S, W5523S, W7642S, W7666S | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327921
- GRCh38:
- Chr6:56463123
| DST | P5338A, P5384A, P5522A, P5344A, P7641A, P5018A, P7650A, P7665A | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327927
- GRCh38:
- Chr6:56463129
| DST | G5382C, G5342C, G7663C, G5520C, G7639C, G7648C, G5016C | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327929
- GRCh38:
- Chr6:56463131
| DST | Y5015C, Y5335C, Y5341C, Y5381C, Y5519C, Y7638C, Y7647C, Y7662C | DST-related condition | Uncertain significance
(May 9, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327932
- GRCh38:
- Chr6:56463134
| DST | N5334S, N7661S, N5014S, N5340S, N7646S, N5380S, N5518S, N7637S | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327935
- GRCh38:
- Chr6:56463137
| DST | R5339H, R5379H, R5013H, R5517H, R5333H, R7636H, R7645H, R7660H | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Inborn genetic diseases
| Uncertain significance
(Feb 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56327936
- GRCh38:
- Chr6:56463138
| DST | R5013C, R5339C, R5379C, R7636C, R7645C, R5517C, R5333C, R7660C | Inborn genetic diseases, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6
| Uncertain significance
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56327939
- GRCh38:
- Chr6:56463141
| DST | T5332S, T7644S, T5012S, T5338S, T5378S, T7635S, T5516S, T7659S | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Jul 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327950
- GRCh38:
- Chr6:56463152
| DST | L5334P, L7631P, L7640P, L5374P, L5512P, L7655P, L5008P | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6 | Uncertain significance
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327951
- GRCh38:
- Chr6:56463153
| DST | L5008F, L5328F, L5334F, L5374F, L5512F, L7631F, L7640F, L7655F | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(Jul 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56327962
- GRCh38:
- Chr6:56463164
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Likely benign
(Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56328205
- GRCh38:
- Chr6:56463407
| DST | | not provided | Likely benign
(Mar 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56328345
- GRCh38:
- Chr6:56463547
| DST | | Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56328359
- GRCh38:
- Chr6:56463561
| DST | | Inborn genetic diseases | Uncertain significance
(Feb 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:56328360
- GRCh38:
- Chr6:56463562
| DST | | Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6, Inborn genetic diseases
| Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:56328362
- GRCh38:
- Chr6:56463564
| DST | | not provided, Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency, Hereditary sensory and autonomic neuropathy type 6
| Likely pathogenic
(Sep 22, 2023) | criteria provided, multiple submitters, no conflicts |