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Results: 14

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
OSTM1Osteopetrosis autosomal recessive 5Pathogenic
(Oct 10, 2007)
no assertion criteria provided
2.
OSTM1Osteopetrosis autosomal recessive 5Pathogenic
(Oct 10, 2007)
no assertion criteria provided
3.
GRCh37:
Chr6:108385490-108385491
GRCh38:
Chr6:108064286-108064287
OSTM1Osteopetrosis autosomal recessive 5Pathogenic
(Jun 8, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr6:108395635
GRCh38:
Chr6:108074431
OSTM1not specifiedGMAF:0.01520(C)Benign
(Oct 2, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr6:108395722
GRCh38:
Chr6:108074518
OSTM1not providedUncertain significance
(Apr 9, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr6:108395820
GRCh38:
Chr6:108074616
OSTM1Osteopetrosis autosomal recessive 5Pathogenic
(Oct 10, 2007)
no assertion criteria provided
7.
GRCh37:
Chr6:100502765-120809300
GRCh38:
Chr6:100054889-120488154
See casesPathogenic
(Mar 4, 2013)
no assertion criteria provided
8.
GRCh37:
Chr6:103727340-114255403
GRCh38:
Chr6:103279465-113934239
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
9.
GRCh37:
Chr6:106951594-126102365
GRCh38:
Chr6:106503719-125781219
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
10.
GRCh37:
Chr6:107766485-110869110
GRCh38:
Chr6:107445281-110547907
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
11.
GRCh37:
Chr6:75092523-142361637
GRCh38:
Chr6:74382807-142040500
AIM1, AMD1, ARG1, BCKDHB, PRDM1, CCNC, CGA, CNR1, COL10A1, COL12A1, COX7A2, CTGF, EPB41L2, EPHA7, EYA4, FABP7, FOXO3, FRK, FYN, GABRR1, GABRR2, GJA1, GPR6, GRIK2, HDAC2, HSF2, HTR1B, HTR1E, IFNGR1, IMPG1, KPNA5, LAMA2, LAMA4, MARCKS, MAN1A1, ME1, MAP3K5, MYB, MYO6, NT5E, ENPP1, ENPP3, PEX7, PGM3, PLN, POU3F2, PREP, PKIB, PTPRK, REV3L, ROS1, RPS12, SGK1, SIM1, SMPD2, ELOVL4, MAP3K7, TCF21, NR2E1, TNFAIP3, TPBG, TPD52L1, TSPYL1, TTK, RNF217-AS1, STX7, DDO, SNX3, RNGTT, CD164, WISP3, VNN2, VNN1, WASF1, TAAR5, MAP7, TBX18, TAAR2, HMGN3, MED23, FHL5, AKAP7, ATG5, TBPL1, , BCLAF1, ZBTB24, SNAP91, FIG4, CASP8AP2, TRDN, CITED2, SYNCRIP, SLC35A1, FUT9, TRAF3IP2, HBS1L, SMPDL3A, PNRC1, ASCC3, BVES, SEC63, CEP162, ANKRD6, DOPEY1, ZNF292, CDK19, MDN1, TSPYL4, UFL1, HEY2, HEBP2, ORC3, ASF1A, CCDC28A, PNISR, IBTK, MOXD1, SENP6, FBXL4, SNORD50A, PDE7B, FILIP1, SESN1, OSTM1, NDUFAF4, DSE, HDDC2, CYB5R4, TUBE1, C6orf203, CDC40, RWDD1, UBE2J1, HECA, COQ3, IL20RA, AHI1, PHIP, SOBP, AKIRIN2, QRSL1, VNN3, FAM46A, TMEM30A, ECHDC1, RARS2, PDSS2, GOPC, SMIM8, , NHSL1, LYRM2, SNX14, SERINC1, HACE1, BEND3, ABRACL, RRAGD, PRDM13, PBOV1, BACH2, TRMT11, LINC01590, PERP, POPDC3, ALDH8A1, MICAL1, OR2A4, FAM184A, MANEA, LOC80078, GPR63, SPACA1, RNF146, TAAR8, SH3BGRL2, ARMC2, RPF2, L3MBTL3, MCHR2, FAXC, GJA10, RTN4IP1, RSPO3, USP45, REPS1, SLC22A16, C6orf7, UBE3D, , ARHGAP18, GTF3C6, MRAP2, RWDD2A, MTFR2, KLHL32, TMEM200A, NUS1, IL22RA2, SLC18B1, SLC16A10, RIPPLY2, IRAK1BP1, CLVS2, TAAR9, TAAR1, NCOA7, HINT3, PM20D2, SRSF12, SAMD3, LINC01312, SLC2A12, LINC01010, RNF217, NKAIN2, C6orf165, BVES-AS1, PRSS35, LCA5, OLIG3, TXLNB, C6orf163, AK9, NT5DC1, FAM26D, ZUFSP, FAM162B, TBC1D32, HS3ST5, GPRC6A, RFX6, SLC35F1, VGLL2, LACE1, TMEM244, MMS22L, FAM26E, MCM9, SCML4, LINC00326, CEP57L1, PPIL6, LINC01268, FLJ34503, DCBLD1, LOC285762, TAAR6, SLC35D3, RSPH4A, ECT2L, C6orf58, GJB7, SNHG5, CENPW, SOGA3, LINC00222, CEP85L, THEMIS, LIN28B, C6orf183, FAM26F, FLJ46906, RFPL4B, SNORD101, SNORD100, SNORA33, FAM229B, TSG1, LOC643623, TRAF3IP2-AS1, CTAGE9, LOC645434, SNORD50B, MIR548A2, MIR548B, MIR587, MIR588, MCHR2-AS1, METTL24, LINC00577, TRAPPC3L, LOC100130476, TSTD3, LINC00271, LOC100132735, CD24, TRE-CTC1-7, OSTM1-AS1, HMGN3-AS1, NHEG1, MIR2113, LOC100422737, MIR3144, MIR3145, MIR3668, MIR3662, LOC100506804, SMLR1, LINC01013, TARID, LOC100507406, LOC100507462, LOC100507477, MIR4464, MIR4643, MIR4465, MIR548AJ1, MIR548AI, MIR4463, MIR548H5, LOC100996634, MANEA-AS1, LOC101927314, LOC101927365, LOC101927640, LOC101927686, LOC101927768, LOC101927919, HRAT13, LOC101928140, LOC101928231, LOC101928304, LOC101928461, LOC101928516, LOC101928540, MEI4, LINC01526, LOC101928911, LOC101928936, LOC101929057, CASC6, ARMC2-AS1, LOC102723649, LOC102724201, LOC103352541, NCOA7-AS1, LINC01611
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
12.
GRCh37:
Chr6:97057870-122482694
GRCh38:
Chr6:96609994-122161548
See casesPathogenic
(Aug 19, 2011)
no assertion criteria provided
13.
GRCh37:
Chr6:107691345-116148646
GRCh38:
Chr6:107370141-115827482
See casesPathogenic
(Jan 13, 2012)
no assertion criteria provided
14.
GRCh37:
Chr6:102804377-111371082
GRCh38:
Chr6:102356502-111049879
See casesPathogenic
(Sep 30, 2010)
no assertion criteria provided

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