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Items: 1 to 100 of 225

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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, LOC101928516, LOC101928540, LOC101928911, LOC101928936, LOC102724646, LOC103352541, LOC105377879, LOC105377924, LOC105377967, LOC105377975, LOC107986532, 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, 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, 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 casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
2.
GRCh37:
Chr6:76635916-93420511
GRCh38:
Chr6:75926199-92710793
AKIRIN2, ANKRD6, BACH2, BCKDHB, C6orf163, CASC6, CASP8AP2, CEP162, CFAP206, CGA, CNR1, CYB5R4, DOP1A, ELOVL4, GABRR1, GABRR2, GJA10, GJB7, HMGN3, HMGN3-AS1, HTR1B, HTR1E, IBTK, IMPG1, IRAK1BP1, LCA5, LCAL1, LINC01526, LINC01590, LINC01611, LINC01621, LINC02535, LINC02540, LINC02542, LOC101928911, LOC101928936, LOC105377879, LOC107986532, LOC108348029, LOC110121249, LOC111413030, LOC111429613, LOC113175019, LOC113175020, LOC116183065, LOC116183066, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740657, LOC121740658, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, 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, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LYRM2, MAP3K7, MDN1, MDN1-AS1, ME1, MEI4, MIR10524, MIR4464, MIR4643, MRAP2, NT5E, ORC3, PGM3, PHIP, PM20D2, PNRC1, PRSS35, RARS2, RIPPLY2, RIPPLY2-CYB5R4, RNGTT, RRAGD, RWDD2A, SH3BGRL2, SLC35A1, SMIM8, SNAP91, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, TBX18-AS1, TENT5A, TPBG, TTK, UBE2J1, UBE3D, ZNF292
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
3.
GRCh37:
Chr6:83278815-94463194
GRCh38:
Chr6:82569098-93753476
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr6:84548022-99270189
GRCh38:
Chr6:83838303-98822313
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
5.
GRCh37:
Chr6:86080434-91379512
GRCh38:
Chr6:85370716-90669793
See casesPathogenic
(Jan 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr6:86513991-93898976
GRCh38:
Chr6:85804273-93189258
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
7.
GRCh37:
Chr6:90048798-92805760
GRCh38:
Chr6:89339079-92096042
See casesUncertain significance
(Aug 26, 2013)
no assertion criteria provided
8.
GRCh37:
Chr6:90641517-92417354
GRCh38:
Chr6:89931798-91707636
See casesUncertain significance
(Nov 30, 2010)
no assertion criteria provided
9.
GRCh37:
Chr6:90776424-91281399
GRCh38:
Chr6:90066705-90571680
See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
10.
GRCh37:
Chr6:90776424-91289546
GRCh38:
Chr6:90066705-90579827
See casesUncertain significance
(Jan 3, 2012)
no assertion criteria provided
11.
GRCh37:
Chr6:91226261
GRCh38:
Chr6:90516542
MAP3K7V567I, V594IInborn genetic diseasesUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr6:91226286
GRCh38:
Chr6:90516567
MAP3K7not providedBenign
(Nov 3, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr6:91226301
GRCh38:
Chr6:90516582
MAP3K7S553R, S580Rnot providedUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr6:91226322
GRCh38:
Chr6:90516603
MAP3K7not providedLikely benign
(Apr 9, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr6:91226334
GRCh38:
Chr6:90516615
MAP3K7not providedLikely benign
(Jul 18, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr6:91226361
GRCh38:
Chr6:90516642
MAP3K7not providedLikely benign
(Jul 15, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr6:91226369
GRCh38:
Chr6:90516650
MAP3K7E558K, E531Knot providedUncertain significance
(Dec 22, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr6:91226408
GRCh38:
Chr6:90516689
MAP3K7not providedLikely benign
(Aug 29, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr6:91228203
GRCh38:
Chr6:90518484
MAP3K7K508E, K535Enot providedUncertain significance
(May 5, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr6:91228207
GRCh38:
Chr6:90518488
MAP3K7not providedLikely benign
(Sep 14, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr6:91228270
GRCh38:
Chr6:90518551
MAP3K7not providedLikely benign
(Aug 15, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:91228271
GRCh38:
Chr6:90518552
MAP3K7P485L, P512LFrontometaphyseal dysplasia 2, not providedConflicting interpretations of pathogenicity
(Sep 10, 2022)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr6:91228423
GRCh38:
Chr6:90518704
MAP3K7not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr6:91228963
GRCh38:
Chr6:90519244
MAP3K7not providedBenign
(Oct 24, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr6:91228972
GRCh38:
Chr6:90519253
MAP3K7not providedUncertain significance
(Jul 18, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr6:91229016
GRCh38:
Chr6:90519297
MAP3K7not providedLikely benign
(Sep 13, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:91229032
GRCh38:
Chr6:90519313
MAP3K7N463S, N490Snot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr6:91229055
GRCh38:
Chr6:90519336
MAP3K7not providedBenign
(Jul 26, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:91233129
GRCh38:
Chr6:90523410
MAP3K7not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr6:91233377
GRCh38:
Chr6:90523658
MAP3K7not providedLikely benign
(May 27, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr6:91233411
GRCh38:
Chr6:90523692
MAP3K7P456L, P483Lnot providedUncertain significance
(Sep 4, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr6:91233431
GRCh38:
Chr6:90523712
MAP3K7not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr6:91233446
GRCh38:
Chr6:90523727
MAP3K7not providedLikely benign
(Jun 2, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr6:91233451
GRCh38:
Chr6:90523732
MAP3K7P443T, P470Tnot specifiedBenignno assertion criteria provided
35.
GRCh37:
Chr6:91233477-91233491
GRCh38:
Chr6:90523758-90523772
MAP3K7not providedUncertain significance
(Sep 18, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr6:91233479
GRCh38:
Chr6:90523760
MAP3K7not providedLikely benign
(Jul 7, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:91233502
GRCh38:
Chr6:90523783
MAP3K7V426M, V453Mnot providedUncertain significance
(Aug 16, 2019)
criteria provided, single submitter
38.
GRCh37:
Chr6:91233512
GRCh38:
Chr6:90523793
MAP3K7not providedBenign
(Aug 15, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:91246007
GRCh38:
Chr6:90536288
MAP3K7not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr6:91246047
GRCh38:
Chr6:90536328
MAP3K7Frontometaphyseal dysplasia 2Uncertain significance
(Nov 15, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr6:91246052
GRCh38:
Chr6:90536333
MAP3K7not providedUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr6:91246061
GRCh38:
Chr6:90536342
MAP3K7G424S, G451SFrontometaphyseal dysplasia 2Uncertain significance
(Jan 28, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr6:91246102
GRCh38:
Chr6:90536383
MAP3K7R410H, R437Hnot providedBenign
(Sep 17, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:91246120
GRCh38:
Chr6:90536401
MAP3K7G404D, G431Dnot providedLikely benign
(Aug 31, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr6:91246130
GRCh38:
Chr6:90536411
MAP3K7not providedLikely benign
(Apr 2, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr6:91254266-91254267
GRCh38:
Chr6:90544547-90544548
MAP3K7not providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr6:91254268
GRCh38:
Chr6:90544549
MAP3K7not providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr6:91254275
GRCh38:
Chr6:90544556
MAP3K7I429Mnot providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:91254280
GRCh38:
Chr6:90544561
MAP3K7V428Inot providedLikely benign
(Oct 24, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:91254281
GRCh38:
Chr6:90544562
MAP3K7not providedLikely benign
(Apr 8, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr6:91254283
GRCh38:
Chr6:90544564
MAP3K7I427Vnot providedBenign
(Aug 16, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr6:91254306
GRCh38:
Chr6:90544587
MAP3K7G419DInborn genetic diseasesUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr6:91254314
GRCh38:
Chr6:90544595
MAP3K7not providedLikely benign
(Aug 11, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr6:91254325
GRCh38:
Chr6:90544606
MAP3K7R413Cnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr6:91254330
GRCh38:
Chr6:90544611
MAP3K7G411Dnot providedUncertain significance
(May 24, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr6:91254345
GRCh38:
Chr6:90544626
MAP3K7S406Cnot providedUncertain significance
(Aug 11, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr6:91254360-91254361
GRCh38:
Chr6:90544641-90544642
MAP3K7not providedBenign
(Oct 12, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:91254365
GRCh38:
Chr6:90544646
MAP3K7not providedLikely benign
(Jan 15, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr6:91256678
GRCh38:
Chr6:90546959
MAP3K7not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr6:91256928
GRCh38:
Chr6:90547209
MAP3K7not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr6:91256978
GRCh38:
Chr6:90547259
MAP3K7not providedUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr6:91256990
GRCh38:
Chr6:90547271
MAP3K7not providedLikely benign
(Sep 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr6:91256992
GRCh38:
Chr6:90547273
MAP3K7I399Vnot providedUncertain significance
(Jul 7, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:91257012
GRCh38:
Chr6:90547293
MAP3K7M392TInborn genetic diseasesUncertain significance
(Jul 20, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr6:91257012
GRCh38:
Chr6:90547293
MAP3K7M392Rnot providedUncertain significance
(Oct 21, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr6:91257022
GRCh38:
Chr6:90547303
MAP3K7S389Gnot providedUncertain significance
(May 27, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:91257024
GRCh38:
Chr6:90547305
MAP3K7M388Tnot providedUncertain significance
(Dec 24, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr6:91257028
GRCh38:
Chr6:90547309
MAP3K7not providedLikely benign
(Jul 2, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr6:91257032
GRCh38:
Chr6:90547313
MAP3K7not providedUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:91257039
GRCh38:
Chr6:90547320
MAP3K7S383Fnot providedUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:91257043
GRCh38:
Chr6:90547324
MAP3K7T382AInborn genetic diseasesUncertain significance
(Oct 6, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:91257048
GRCh38:
Chr6:90547329
MAP3K7P380Rnot providedUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr6:91257050
GRCh38:
Chr6:90547331
MAP3K7L379Fnot providedUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr6:91257050
GRCh38:
Chr6:90547331
MAP3K7not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr6:91257072
GRCh38:
Chr6:90547353
MAP3K7R372Hnot providedUncertain significance
(Jan 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:91257079
GRCh38:
Chr6:90547360
MAP3K7A370TInborn genetic diseasesUncertain significance
(May 18, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:91257746
GRCh38:
Chr6:90548027
MAP3K7not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:91257757
GRCh38:
Chr6:90548038
MAP3K7not providedLikely benign
(May 6, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr6:91257777
GRCh38:
Chr6:90548058
MAP3K7A357Tnot providedUncertain significance
(Sep 24, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr6:91257781
GRCh38:
Chr6:90548062
MAP3K7not providedLikely benign
(Aug 24, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr6:91257833
GRCh38:
Chr6:90548114
MAP3K7V338Gnot providedUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:91257860
GRCh38:
Chr6:90548141
MAP3K7N329IMAP3K7-related disorderUncertain significance
(Aug 25, 2019)
no assertion criteria provided
83.
GRCh37:
Chr6:91257914
GRCh38:
Chr6:90548195
MAP3K7not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr6:91258204
GRCh38:
Chr6:90548485
MAP3K7not providedBenign
(Jun 21, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr6:91260116
GRCh38:
Chr6:90550397
MAP3K7not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr6:91260179
GRCh38:
Chr6:90550460
MAP3K7not providedLikely benign
(Jul 8, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr6:91260181
GRCh38:
Chr6:90550462
MAP3K7not providedUncertain significance
(Jul 3, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:91260262
GRCh38:
Chr6:90550543
MAP3K7P292Anot providedUncertain significance
(Oct 13, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr6:91260271
GRCh38:
Chr6:90550552
MAP3K7not providedBenign
(Sep 28, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr6:91260285
GRCh38:
Chr6:90550566
MAP3K7Cardiospondylocarpofacial syndromeUncertain significance
(Aug 1, 2020)
criteria provided, single submitter
91.
GRCh37:
Chr6:91260288
GRCh38:
Chr6:90550569
MAP3K7not providedBenign
(Apr 16, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:91260288
GRCh38:
Chr6:90550569
MAP3K7not providedLikely benign
(Apr 26, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:91260341
GRCh38:
Chr6:90550622
MAP3K7not providedBenign
(Jun 20, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr6:91261583
GRCh38:
Chr6:90551864
MAP3K7not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr6:91261750
GRCh38:
Chr6:90552031
MAP3K7not providedLikely benign
(Nov 9, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr6:91261752
GRCh38:
Chr6:90552033
MAP3K7not providedLikely benign
(May 12, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:91261758
GRCh38:
Chr6:90552039
MAP3K7not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr6:91261769
GRCh38:
Chr6:90552050
MAP3K7R289Qnot providedUncertain significance
(Jul 31, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr6:91261783
GRCh38:
Chr6:90552064
MAP3K7M284Inot providedLikely benign
(Feb 8, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr6:91261815
GRCh38:
Chr6:90552096
MAP3K7R274Cnot providedConflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
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