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Items: 1 to 100 of 26785

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr2:164821892-183059789
GRCh38:
Chr2:163965382-182195062
ABCB11, AGPS, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BBS5, CCDC141, CDCA7, CERKL, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CHROMR, CIR1, COBLL1, CSRNP3, CWC22, CYBRD1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DYNC1I2, EPCART, ERICH2, ERICH2-DT, EVX2, FASTKD1, FKBP7, G6PC2, GAD1, GALNT3, GORASP2, GPR155, GPR155-DT, GRB14, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGA6, ITGA6-AS1, ITPRID2, KLHL23, KLHL41, LINC01116, LINC01117, LINC01124, LINC01305, LINC01934, LINC01960, LNPK, LOC100130691, LOC100506124, LOC101927055, LOC101929633, LOC102724058, LOC105373759, LOC107126359, LOC108281145, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120677, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC110121216, LOC111413009, LOC112806057, LOC112806058, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC115945201, LOC120977013, LOC120977014, LOC120977015, LOC120977016, LOC121725107, LOC122847308, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC401021, LRP2, MAP3K20, MAP3K20-AS1, METAP1D, METTL5, METTL8, MIR10B, MIR1246, MIR1258, MIR3128, MIR4437, MIR4444-1, MIR4774, MIR6512, MIR7704, MIR933, MTX2, MYO3B, MYO3B-AS1, NEUROD1, NFE2L2, NOSTRIN, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PHOSPHO2, PHOSPHO2-KLHL23, PJVK, PLEKHA3, PPIG, PPP1R1C, PRKRA, RAPGEF4, RAPGEF4-AS1, RBM45, SCHLAP1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SESTD1, SLC25A12, SLC38A11, SNORA70F, SNORD3K, SP3, SP5, SP9, SPC25, SSB, STK39, TLK1, TTC21B, TTC21B-AS1, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, UBR3, WIPF1, XIRP2, XIRP2-AS1, ZNF385B
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
2.
GRCh37:
Chr2:171264198-187054621
GRCh38:
Chr2:170407688-186189894
AGPS, ATF2, ATP5MC3, CCDC141, CDCA7, CERKL, CHN1, CHRNA1, CHROMR, CIR1, CWC22, CYBRD1, DCAF17, DLX1, DLX2, DLX2-DT, DNAJC10, DUSP19, DYNC1I2, EPCART, ERICH2, ERICH2-DT, EVX2, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GAD1, GORASP2, GPR155, GPR155-DT, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGA6, ITGA6-AS1, ITPRID2, LINC01116, LINC01117, LINC01124, LINC01305, LINC01473, LINC01934, LINC01960, LNPK, LOC100130691, LOC101927055, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC115945201, LOC120977015, LOC120977016, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC401021, MAP3K20, MAP3K20-AS1, METAP1D, METTL8, MIR10B, MIR1246, MIR1258, MIR3128, MIR4437, MIR4444-1, MIR548AE1, MIR6512, MIR7704, MIR933, MTX2, MYO3B, NCKAP1, NEUROD1, NFE2L2, NUP35, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PJVK, PLEKHA3, PPP1R1C, PRKRA, RAPGEF4, RAPGEF4-AS1, RBM45, SCHLAP1, SCRN3, SESTD1, SLC25A12, SP3, SP5, SP9, TLK1, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZNF385B, ZNF804A
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
3.
GRCh37:
Chr2:172285743-190044294
GRCh38:
Chr2:171429233-189179568
ITGA6, ITGA6-AS1, ITGAV, ITPRID2, LINC01090, LINC01116, LINC01117, LINC01305, LINC01473, LINC01934, LINC01960, LNPK, LOC100130691, LOC101927055, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC110120624, LOC110120625, LOC110120626, LOC110120627, LOC110120628, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC112806059, LOC112806060, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC115945201, LOC120977015, LOC120977016, LOC121725108, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC401021, MAP3K20, MAP3K20-AS1, METAP1D, METTL8, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MIR933, MTX2, NCKAP1, NEUROD1, NFE2L2, NUP35, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PJVK, PLEKHA3, PPP1R1C, PRKRA, RAPGEF4, RAPGEF4-AS1, RBM45, SCHLAP1, SCRN3, SESTD1, SLC25A12, SP3, SP9, TFPI, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZC3H15, ZNF385B, ZNF804A, ZSWIM2, AGPS, ATF2, ATP5MC3, CALCRL, CALCRL-AS1, CCDC141, CDCA7, CERKL, CHN1, CHRNA1, CHROMR, CIR1, COL3A1, COL5A2, CWC22, CYBRD1, DCAF17, DIRC1, DLX1, DLX2, DLX2-DT, DNAJC10, DUSP19, DYNC1I2, EPCART, EVX2, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GPR155, GPR155-DT, GULP1, HAGLR, HAGLROS, HAT1, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4
See casesPathogenic
(Oct 14, 2010)		no assertion criteria provided
4.
GRCh37:
Chr2:175101179-182053573
GRCh38:
Chr2:174236451-181188846
AGPS, ATF2, ATP5MC3, CCDC141, CHN1, CHRNA1, CHROMR, CIR1, CWC22, EPCART, EVX2, FKBP7, GPR155, GPR155-DT, HAGLR, HAGLROS, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, LNPK, HOXD9, IFT70A, IFT70B, LINC01116, LINC01117, LINC01305, LINC01934, LOC100130691, LOC101927055, LOC105373759, LOC107126359, LOC110120627, LOC110120628, LOC110120790, LOC110120809, LOC112806061, LOC112806062, LOC120977015, LOC120977016, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC401021, MIR10B, MIR1246, MIR1258, MIR3128, MIR4444-1, MIR6512, MIR7704, MIR933, MTX2, NFE2L2, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PJVK, PLEKHA3, PRKRA, RBM45, SCHLAP1, SCRN3, SESTD1, SP9, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZNF385B
See casesPathogenic
(Sep 18, 2013)		no assertion criteria provided
5.
GRCh37:
Chr2:175499230-189865690
GRCh38:
Chr2:174634502-189000964
AGPS, ATF2, ATP5MC3, CALCRL, CALCRL-AS1, CCDC141, CERKL, CHN1, CHRNA1, CHROMR, COL3A1, CWC22, DIRC1, DNAJC10, DUSP19, EPCART, EVX2, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GULP1, HAGLR, HAGLROS, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, ITGA4, ITGAV, ITPRID2, LINC01090, LINC01116, LINC01117, LINC01473, LINC01934, LNPK, LOC100130691, LOC101927055, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC110120627, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC120977015, LOC120977016, LOC121725108, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC401021, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MIR933, MTX2, NCKAP1, NEUROD1, NFE2L2, NUP35, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PJVK, PLEKHA3, PPP1R1C, PRKRA, RBM45, SCHLAP1, SESTD1, TFPI, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WIPF1, ZC3H15, ZNF385B, ZNF804A, ZSWIM2
See casesPathogenic
(Oct 14, 2010)		no assertion criteria provided
6.
GRCh37:
Chr2:175763576-204806271
GRCh38:
Chr2:174898848-203941548
ABI2, AGPS, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, AOX1, ASDURF, ASNSD1, ATF2, ATP5MC3, BMPR2, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf88, CALCRL, CALCRL-AS1, CARF, CASP10, CASP8, CAVIN2, CAVIN2-AS1, CCDC141, CCDC150, CD28, CDK15, CERKL, CFLAR, CFLAR-AS1, CHN1, CHROMR, CLK1, COL3A1, COL5A2, COQ10B, CTLA4, CWC22, CYP20A1, DIRC1, DNAH7, DNAJC10, DUSP19, EPCART, EVX2, FAM117B, FAM171B, FKBP7, FLACC1, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD7, GLS, GTF3C3, GULP1, HAGLR, HAGLROS, HECW2, HECW2-AS1, HIBCH, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, ICA1L, ICOS, IFT70A, IFT70B, INPP1, ITGA4, ITGAV, ITPRID2, KCTD18, KIAA2012, KIAA2012-AS1, LINC01090, LINC01116, LINC01117, LINC01473, LINC01790, LINC01792, LINC01821, LINC01827, LINC01877, LINC01923, LINC01934, LNPK, LOC100130452, LOC100130691, LOC101927055, LOC105373759, LOC105373780, LOC105373782, LOC107126359, LOC108281145, LOC108281167, LOC108353821, LOC110120627, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC115945202, LOC115947632, LOC120977016, LOC120977017, LOC120977018, LOC120977019, LOC121725108, LOC122861245, LOC122861246, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC122861279, LOC124906109, LOC126806410, LOC126806411, LOC126806412, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC126806473, LOC128772255, LOC128772256, LOC401021, LOC729254, MAIP1, MARS2, MFSD6, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MIR933, MOB4, MPP4, MSTN, MTX2, MYO1B, NAB1, NABP1, NABP1-OT1, NBEAL1, NCKAP1, NDUFB3, NEMP2, NEMP2-DT, NEUROD1, NFE2L2, NIF3L1, NOP58, NUP35, ORC2, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE11A-AS1, PDE1A, PGAP1, PJVK, PLCL1, PLEKHA3, PMS1, PPIL3, PPP1R1C, PRKRA, RAPH1, RBM45, RFTN2, SATB2, SATB2-AS1, SCHLAP1, SESTD1, SF3B1, SGO2, SLC39A10, SLC40A1, SNORA105B, SNORD11, SNORD11B, SNORD70, SNORD70B, SPATS2L, STAT1, STAT4, STAT4-AS1, STK17B, STRADB, SUMO1, TFPI, TMEFF2, TMEM237, TRAK2, TTN, TTN-AS1, TYW5, UBE2E3, UBE2E3-DT, WDR12, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
7.
GRCh37:
Chr2:176951491-194066696
GRCh38:
Chr2:176086763-193201970
AGPS, ANKAR, ASDURF, ASNSD1, C2orf88, CALCRL, CALCRL-AS1, CAVIN2, CAVIN2-AS1, CCDC141, CERKL, CHROMR, COL3A1, COL5A2, CWC22, DIRC1, DNAJC10, DUSP19, EPCART, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GLS, GULP1, HAGLR, HAGLROS, HIBCH, HNRNPA3, HOXD-AS2, HOXD1, HOXD10, HOXD11, HOXD12, HOXD13, HOXD3, HOXD4, HOXD8, HOXD9, IFT70A, IFT70B, INPP1, ITGA4, ITGAV, ITPRID2, LINC01090, LINC01116, LINC01117, LINC01473, LINC01934, LOC100130691, LOC101927055, LOC105373759, LOC105373780, LOC105373782, LOC108281145, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC115945202, LOC115947632, LOC120977016, LOC120977017, LOC121725108, LOC122861247, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC124906109, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC401021, LOC729254, MFSD6, MIR10B, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MIR7704, MSTN, MTX2, MYO1B, NAB1, NABP1, NABP1-OT1, NCKAP1, NEMP2, NEMP2-DT, NEUROD1, NFE2L2, NUP35, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE11A-AS1, PDE1A, PJVK, PLEKHA3, PMS1, PPP1R1C, PRKRA, RBM45, SCHLAP1, SESTD1, SLC40A1, STAT1, STAT4, STAT4-AS1, TFPI, TMEFF2, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2
See casesPathogenic
(Jun 25, 2013)		no assertion criteria provided
8.
GRCh37:
Chr2:177169173-202904513
GRCh38:
Chr2:176304445-202039790
AGPS, ALS2, ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, AOX1, ASDURF, ASNSD1, BOLL, BZW1, BZW1-AS1, C2CD6, C2orf66, C2orf69, C2orf88, CALCRL, CALCRL-AS1, CASP10, CASP8, CAVIN2, CAVIN2-AS1, CCDC141, CCDC150, CDK15, CERKL, CFLAR, CFLAR-AS1, CHROMR, CLK1, COL3A1, COL5A2, COQ10B, CWC22, DIRC1, DNAH7, DNAJC10, DUSP19, EPCART, FAM171B, FKBP7, FLACC1, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, FTCDNL1, FZD7, GLS, GTF3C3, GULP1, HECW2, HECW2-AS1, HIBCH, HNRNPA3, HSPD1, HSPE1, HSPE1-MOB4, HYCC2, IFT70A, IFT70B, INPP1, ITGA4, ITGAV, ITPRID2, KCTD18, LINC01090, LINC01116, LINC01117, LINC01473, LINC01790, LINC01792, LINC01821, LINC01827, LINC01877, LINC01923, LINC01934, LOC100130452, LOC100130691, LOC101927055, LOC105373759, LOC105373780, LOC105373782, LOC108281145, LOC108281167, LOC108353821, LOC110120628, LOC112806061, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC112806073, LOC115945202, LOC115947632, LOC120977016, LOC120977017, LOC120977018, LOC120977019, LOC121725108, LOC122861248, LOC122861249, LOC122861250, LOC122861251, LOC122861252, LOC122861253, LOC122861254, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC122861276, LOC122861277, LOC122861278, LOC124906109, LOC126806413, LOC126806414, LOC126806415, LOC126806416, LOC126806417, LOC126806418, LOC126806419, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC126806462, LOC126806463, LOC126806464, LOC126806465, LOC126806466, LOC126806467, LOC126806468, LOC126806469, LOC126806470, LOC126806471, LOC126806472, LOC128772255, LOC128772256, LOC729254, MAIP1, MARS2, MFSD6, MIR1245A, MIR1245B, MIR1246, MIR1258, MIR3128, MIR3129, MIR3606, MIR4437, MIR4444-1, MIR548AE1, MIR561, MIR6512, MOB4, MPP4, MSTN, MTX2, MYO1B, NAB1, NABP1, NABP1-OT1, NCKAP1, NDUFB3, NEMP2, NEMP2-DT, NEUROD1, NFE2L2, NIF3L1, NUP35, ORC2, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE11A-AS1, PDE1A, PGAP1, PJVK, PLCL1, PLEKHA3, PMS1, PPIL3, PPP1R1C, PRKRA, RBM45, RFTN2, SATB2, SATB2-AS1, SCHLAP1, SESTD1, SF3B1, SGO2, SLC39A10, SLC40A1, SNORA105B, SPATS2L, STAT1, STAT4, STAT4-AS1, STK17B, STRADB, TFPI, TMEFF2, TMEM237, TRAK2, TTN, TTN-AS1, TYW5, UBE2E3, UBE2E3-DT, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
9.
GRCh37:
Chr2:178692457-195990053
GRCh38:
Chr2:177827730-195125329
ANKAR, ASDURF, ASNSD1, C2orf88, CALCRL, CALCRL-AS1, CAVIN2, CAVIN2-AS1, CCDC141, CERKL, CHROMR, COL3A1, COL5A2, CWC22, DIRC1, DNAJC10, DUSP19, EPCART, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GLS, GULP1, HIBCH, INPP1, ITGA4, ITGAV, ITPRID2, LINC01090, LINC01473, LINC01790, LINC01821, LINC01934, LOC101927055, LOC105373780, LOC105373782, LOC108281145, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC115945202, LOC115947632, LOC120977017, LOC121725108, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC124906109, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC729254, MFSD6, MIR1245A, MIR1245B, MIR1258, MIR3129, MIR3606, MIR4437, MIR548AE1, MIR561, MSTN, MYO1B, NAB1, NABP1, NABP1-OT1, NCKAP1, NEMP2, NEMP2-DT, NEUROD1, NUP35, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE1A, PJVK, PLEKHA3, PMS1, PPP1R1C, PRKRA, RBM45, SCHLAP1, SESTD1, SLC40A1, STAT1, STAT4, STAT4-AS1, TFPI, TMEFF2, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2
See casesPathogenic
(Mar 24, 2014)		no assertion criteria provided
10.
GRCh37:
Chr2:178738797-199390216
GRCh38:
Chr2:177874070-198525492
ANKAR, ANKRD44, ANKRD44-AS1, ANKRD44-IT1, ASDURF, ASNSD1, BOLL, C2orf66, C2orf88, CALCRL, CALCRL-AS1, CAVIN2, CAVIN2-AS1, CCDC141, CCDC150, CERKL, CHROMR, COL3A1, COL5A2, COQ10B, CWC22, DIRC1, DNAH7, DNAJC10, DUSP19, EPCART, FAM171B, FKBP7, FRZB, FSIP2, FSIP2-AS1, FSIP2-AS2, GLS, GTF3C3, GULP1, HECW2, HECW2-AS1, HIBCH, HSPD1, HSPE1, HSPE1-MOB4, INPP1, ITGA4, ITGAV, ITPRID2, LINC01090, LINC01473, LINC01790, LINC01821, LINC01827, LINC01923, LINC01934, LOC100130452, LOC101927055, LOC105373780, LOC105373782, LOC108281145, LOC108353821, LOC112806062, LOC112806063, LOC112806064, LOC112806065, LOC112806066, LOC112806067, LOC112806068, LOC112806069, LOC112806070, LOC112806071, LOC115945202, LOC115947632, LOC120977017, LOC121725108, LOC122861255, LOC122861256, LOC122861257, LOC122861258, LOC122861259, LOC122861260, LOC122861261, LOC122861262, LOC122861263, LOC122861264, LOC122861265, LOC122861266, LOC122861267, LOC122861268, LOC122861269, LOC122861270, LOC122861271, LOC122861272, LOC122861273, LOC122861274, LOC122861275, LOC124906109, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, LOC126806434, LOC126806435, LOC126806436, LOC126806437, LOC126806438, LOC126806439, LOC126806440, LOC126806441, LOC126806442, LOC126806443, LOC126806444, LOC126806445, LOC126806446, LOC126806447, LOC126806448, LOC126806449, LOC126806450, LOC126806451, LOC126806452, LOC126806453, LOC126806454, LOC126806455, LOC126806456, LOC126806457, LOC126806458, LOC126806459, LOC126806460, LOC126806461, LOC729254, MARS2, MFSD6, MIR1245A, MIR1245B, MIR1258, MIR3129, MIR3606, MIR4437, MIR548AE1, MIR561, MOB4, MSTN, MYO1B, NAB1, NABP1, NABP1-OT1, NCKAP1, NEMP2, NEMP2-DT, NEUROD1, NUP35, ORMDL1, OSBPL6, OSGEPL1, OSGEPL1-AS1, PCGEM1, PDE11A, PDE1A, PGAP1, PJVK, PLCL1, PLEKHA3, PMS1, PPP1R1C, PRKRA, RBM45, RFTN2, SCHLAP1, SESTD1, SF3B1, SLC39A10, SLC40A1, SNORA105B, STAT1, STAT4, STAT4-AS1, STK17B, TFPI, TMEFF2, TTN, TTN-AS1, UBE2E3, UBE2E3-DT, WDR75, ZC3H15, ZNF385B, ZNF804A, ZSWIM2
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
11.
GRCh37:
Chr2:179296804-179456251
GRCh38:
Chr2:178432077-178591524
LOC126806422, LOC126806423, PJVK, PLEKHA3, PRKRA, CHROMR, FKBP7, LOC126806420, LOC126806421, TTN, TTN-AS1
Dystonia 16Uncertain significance
(Jun 20, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr2:179369675-179471511
GRCh38:
Chr2:178504948-178606784
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, PLEKHA3, TTN, TTN-AS1Dilated cardiomyopathy 1GLikely pathogenic
(Dec 4, 2017)		criteria provided, single submitter
13.
GRCh37:
Chr2:179390667
GRCh38:
Chr2:178525940
TTN, TTN-AS1not providedBenign
(May 19, 2021)		criteria provided, single submitter
14.
GRCh37:
Chr2:179390703
GRCh38:
Chr2:178525976
TTN-AS1, TTNnot providedLikely benign
(Aug 24, 2021)		criteria provided, single submitter
15.
GRCh37:
Chr2:179390724
GRCh38:
Chr2:178525997
TTN, TTN-AS1Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
16.
GRCh37:
Chr2:179390771
GRCh38:
Chr2:178526044
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr2:179390820
GRCh38:
Chr2:178526093
TTN-AS1, TTNAutosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr2:179390826
GRCh38:
Chr2:178526099
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure ...see more		Uncertain significance
(Oct 19, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr2:179390841
GRCh38:
Chr2:178526114
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr2:179391075
GRCh38:
Chr2:178526348
TTN, TTN-AS1not provided, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure
Benign/Likely benign
(May 23, 2021)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr2:179391103
GRCh38:
Chr2:178526376
TTN-AS1, TTNMyopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr2:179391106
GRCh38:
Chr2:178526379
TTN, TTN-AS1Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy		Uncertain significance
(Mar 16, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr2:179391116
GRCh38:
Chr2:178526389
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr2:179391152
GRCh38:
Chr2:178526425
TTN, TTN-AS1not provided, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J
Conflicting interpretations of pathogenicity
(May 25, 2021)		criteria provided, conflicting interpretations
25.
GRCh37:
Chr2:179391235
GRCh38:
Chr2:178526508
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Dilated cardiomyopathy 1G,
Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr2:179391459
GRCh38:
Chr2:178526732
TTN, TTN-AS1Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr2:179391465
GRCh38:
Chr2:178526738
TTN-AS1, TTNAutosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Myopathy, myofibrillar, 9, with early respiratory failure		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr2:179391542
GRCh38:
Chr2:178526815
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy,
Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr2:179391556
GRCh38:
Chr2:178526829
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr2:179391598
GRCh38:
Chr2:178526871
TTN, TTN-AS1Hypertrophic cardiomyopathy 9, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Tibial muscular dystrophy ...see more		Uncertain significance
(Dec 6, 2021)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr2:179391609
GRCh38:
Chr2:178526882
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr2:179391639-179391640
GRCh38:
Chr2:178526912-178526913
TTN-AS1, TTNLimb-Girdle Muscular Dystrophy, Recessive, not provided, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Tibial muscular dystrophy, Hypertrophic cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy,
Dilated Cardiomyopathy, Dominant, Myopathy, myofibrillar, 9, with early respiratory failure		Benign/Likely benign
(Sep 10, 2021)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:179391640
GRCh38:
Chr2:178526913
TTN, TTN-AS1not providedLikely benign
(Jun 26, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr2:179391680
GRCh38:
Chr2:178526953
TTN, TTN-AS1Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy,
Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
35.
GRCh37:
Chr2:179391696
GRCh38:
Chr2:178526969
TTN, TTN-AS1not providedLikely benign
(Jul 14, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr2:179391714
GRCh38:
Chr2:178526987
TTN, TTN-AS1Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy, Myopathy, myofibrillar, 9, with early respiratory failure,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy		Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr2:179391733
GRCh38:
Chr2:178527006
TTN, TTN-AS1not specified, Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy,
Myopathy, myofibrillar, 9, with early respiratory failure, Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
Conflicting interpretations of pathogenicity
(Mar 17, 2020)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr2:179391740
GRCh38:
Chr2:178527013
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JLikely benign
(Feb 19, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr2:179391741
GRCh38:
Chr2:178527014
TTN, TTN-AS1not providedUncertain significance
(Nov 5, 2020)		criteria provided, single submitter
40.
GRCh37:
Chr2:179391744
GRCh38:
Chr2:178527017
TTN, TTN-AS1I26926fs, I27051fs, I35991fs, I33423fs, I27118fs, I34350fsnot providedUncertain significance
(Jun 24, 2013)		criteria provided, single submitter
41.
GRCh37:
Chr2:179391750
GRCh38:
Chr2:178527023
TTN-AS1, TTNR34348*, R35989*, R33421*, R27116*, R26924*, R27049*Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9, Tibial muscular dystrophy,
Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J		Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr2:179391754
GRCh38:
Chr2:178527027
TTN, TTN-AS1Cardiovascular phenotype, not specified, Myopathy, myofibrillar, 9, with early respiratory failure,
Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Early-onset myopathy with fatal cardiomyopathy, not provided, Cardiomyopathy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G ...see more		Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr2:179391755
GRCh38:
Chr2:178527028
TTN-AS1, TTNH27047R, H35987R, H26922R, H27114R, H33419R, H34346RDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Dec 29, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr2:179391758
GRCh38:
Chr2:178527031
TTN, TTN-AS1I35986T, I27046T, I27113T, I33418T, I26921T, I34345TDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided
Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr2:179391759
GRCh38:
Chr2:178527032
TTN, TTN-AS1I35986V, I34345V, I27046V, I33418V, I26921V, I27113Vnot providedUncertain significance
(Nov 1, 2016)		criteria provided, single submitter
46.
GRCh37:
Chr2:179391763
GRCh38:
Chr2:178527036
TTN-AS1, TTNCardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr2:179391775
GRCh38:
Chr2:178527048
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JLikely benign
(Jun 13, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr2:179391782
GRCh38:
Chr2:178527055
TTN, TTN-AS1G27105E, G27038E, G34337E, G33410E, G26913E, G35978EDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Aug 23, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr2:179391789
GRCh38:
Chr2:178527062
TTN-AS1, TTNE26911*, E27036*, E27103*, E35976*, E33408*, E34335*Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(May 20, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr2:179391790
GRCh38:
Chr2:178527063
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GLikely benign
(Feb 24, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr2:179391795
GRCh38:
Chr2:178527068
TTN, TTN-AS1G26909R, G27034R, G27101R, G33406R, G34333R, G35974Rnot providedUncertain significance
(May 26, 2021)		criteria provided, single submitter
52.
GRCh37:
Chr2:179391800
GRCh38:
Chr2:178527073
TTN, TTN-AS1S35972I, S33404I, S34331I, S27032I, S27099I, S26907Inot provided, not specified, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Aug 22, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr2:179391802
GRCh38:
Chr2:178527075
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JLikely benign
(Feb 10, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr2:179391803-179391804
GRCh38:
Chr2:178527076-178527077
TTN, TTN-AS1L27098fs, L27031fs, L35971fs, L26906fs, L33403fs, L34330fsDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Oct 4, 2021)		criteria provided, single submitter
55.
GRCh37:
Chr2:179391803
GRCh38:
Chr2:178527076
TTN, TTN-AS1L27098Q, L26906Q, L33403Q, L27031Q, L34330Q, L35971QAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GUncertain significance
(Sep 1, 2021)		criteria provided, single submitter
56.
GRCh37:
Chr2:179391806
GRCh38:
Chr2:178527079
TTN, TTN-AS1T33402I, T27030I, T27097I, T35970I, T26905I, T34329IAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GUncertain significance
(Aug 30, 2021)		criteria provided, single submitter
57.
GRCh37:
Chr2:179391812
GRCh38:
Chr2:178527085
TTN, TTN-AS1L26903R, L27028R, L33400R, L34327R, L35968R, L27095RDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Aug 16, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr2:179391812
GRCh38:
Chr2:178527085
TTN, TTN-AS1L33400P, L34327P, L26903P, L27095P, L35968P, L27028PDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Mar 23, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr2:179391815
GRCh38:
Chr2:178527088
TTN, TTN-AS1G35967E, G27094E, G34326E, G33399E, G26902E, G27027EDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided
Uncertain significance
(Jun 25, 2020)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr2:179391818
GRCh38:
Chr2:178527091
TTN, TTN-AS1G33398D, G35966D, G26901D, G27026D, G34325D, G27093Dnot specifiedUncertain significance
(Mar 14, 2014)		criteria provided, single submitter
61.
GRCh37:
Chr2:179391818-179391823
GRCh38:
Chr2:178527091-178527096
TTN, TTN-AS1Tibial muscular dystrophyPathogenic
(Aug 23, 2012)		no assertion criteria provided
62.
GRCh37:
Chr2:179391820
GRCh38:
Chr2:178527093
TTN, TTN-AS1not specifiedLikely benign
(Jan 19, 2023)		criteria provided, single submitter
63.
GRCh37:
Chr2:179391821
GRCh38:
Chr2:178527094
TTN, TTN-AS1D33397G, D35965G, D26900G, D27025G, D27092G, D34324Gnot providedUncertain significance
(May 8, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr2:179391825
GRCh38:
Chr2:178527098
TTN, TTN-AS1Q33396*, Q34323*, Q35964*, Q27024*, Q27091*, Q26899*Tibial muscular dystrophyPathogenic
(Aug 23, 2012)		no assertion criteria provided
65.
GRCh37:
Chr2:179391826
GRCh38:
Chr2:178527099
TTN, TTN-AS1K27023fs, K27090fs, K26898fs, K35963fs, K33395fs, K34322fsCardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy,
Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not provided, Autosomal recessive limb-girdle muscular dystrophy type 2J ...see more		Pathogenic
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:179391832
GRCh38:
Chr2:178527105
TTN, TTN-AS1not providedLikely benign
(Jul 1, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr2:179391834
GRCh38:
Chr2:178527107
TTN-AS1, TTNV35961I, V33393I, V26896I, V27021I, V34320I, V27088IDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided
Uncertain significance
(Jan 6, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr2:179391835
GRCh38:
Chr2:178527108
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Cardiomyopathy
Likely benign
(Sep 18, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:179391840
GRCh38:
Chr2:178527113
TTN, TTN-AS1M26894V, M34318V, M27019V, M33391V, M27086V, M35959VAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GUncertain significance
(Aug 10, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr2:179391841
GRCh38:
Chr2:178527114
TTN, TTN-AS1Cardiovascular phenotypeLikely benign
(Dec 20, 2019)		criteria provided, single submitter
71.
GRCh37:
Chr2:179391842
GRCh38:
Chr2:178527115
TTN, TTN-AS1I26893N, I27018N, I27085N, I33390N, I34317N, I35958NAutosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Mar 21, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr2:179391844
GRCh38:
Chr2:178527117
TTN, TTN-AS1Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Likely benign
(Sep 9, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr2:179391845
GRCh38:
Chr2:178527118
TTN, TTN-AS1I27084T, I26892T, I33389T, I34316T, I27017T, I35957TAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GUncertain significance
(May 21, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr2:179391846
GRCh38:
Chr2:178527119
TTN, TTN-AS1I26892F, I27017F, I27084F, I33389F, I34316F, I35957FAutosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G		Uncertain significance
(Oct 21, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:179391848
GRCh38:
Chr2:178527121
TTN, TTN-AS1L27016fs, L27083fs, L33388fs, L26891fs, L34315fs, L35956fsno interpretation for the single variantno interpretation for the single variant
76.
GRCh37:
Chr2:179391848
GRCh38:
Chr2:178527121
TTN-AS1, TTNL34315P, L33388P, L35956P, L27016P, L26891P, L27083PAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, not provided
Likely pathogenic
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:179391851
GRCh38:
Chr2:178527124
TTN-AS1, TTNT35955N, T34314N, T26890N, T27015N, T27082N, T33387NDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Mar 18, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr2:179391851
GRCh38:
Chr2:178527124
TTN-AS1, TTNT35955I, T27015I, T26890I, T33387I, T34314I, T27082IAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GUncertain significance
(Sep 1, 2021)		criteria provided, single submitter
79.
GRCh37:
Chr2:179391857
GRCh38:
Chr2:178527130
TTN, TTN-AS1L34312R, L35953R, L27013R, L33385R, L26888R, L27080RMyopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9,
Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J,
not specified		Uncertain significance
(Jul 6, 2021)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr2:179391864
GRCh38:
Chr2:178527137
TTN-AS1, TTND26886N, D27011N, D27078N, D33383N, D34310N, D35951Nnot providedUncertain significance
(Dec 28, 2020)		criteria provided, single submitter
81.
GRCh37:
Chr2:179391864
GRCh38:
Chr2:178527137
TTN, TTN-AS1D35951Y, D27011Y, D33383Y, D26886Y, D27078Y, D34310YAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GUncertain significance
(Jul 14, 2021)		criteria provided, single submitter
82.
GRCh37:
Chr2:179391870-179391871
GRCh38:
Chr2:178527143-178527144
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Sep 19, 2021)		criteria provided, single submitter
83.
GRCh37:
Chr2:179391871
GRCh38:
Chr2:178527144
TTN, TTN-AS1E27075D, E33380D, E26883D, E27008D, E34307D, E35948DDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Jul 15, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr2:179391871-179392014
GRCh38:
Chr2:178527144-178527287
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GUncertain significance
(Jun 27, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr2:179391875
GRCh38:
Chr2:178527148
TTN-AS1, TTNI34306S, I35947S, I27007S, I33379S, I26882S, I27074Snot provided, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
Conflicting interpretations of pathogenicity
(Oct 17, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr2:179391875
GRCh38:
Chr2:178527148
TTN-AS1, TTNI35947T, I33379T, I26882T, I34306T, I27007T, I27074TDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided
Uncertain significance
(Jul 4, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr2:179391875
GRCh38:
Chr2:178527148
TTN-AS1, TTNI33379N, I34306N, I35947N, I27007N, I27074N, I26882NAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Tibial muscular dystrophy
Pathogenic/Likely pathogenic
(Mar 30, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr2:179391876
GRCh38:
Chr2:178527149
TTN, TTN-AS1I35947V, I26882V, I27007V, I34306V, I27074V, I33379VAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GUncertain significance
(Sep 1, 2021)		criteria provided, single submitter
89.
GRCh37:
Chr2:179391877
GRCh38:
Chr2:178527150
TTN, TTN-AS1Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JLikely benign
(Jul 1, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr2:179391878
GRCh38:
Chr2:178527151
TTN, TTN-AS1H33378P, H34305P, H35946P, H27073P, H26881P, H27006PTibial muscular dystrophynot providedno assertion provided
91.
GRCh37:
Chr2:179391879
GRCh38:
Chr2:178527152
TTN, TTN-AS1H27073Y, H26881Y, H33378Y, H27006Y, H34305Y, H35946YDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Jul 29, 2021)		criteria provided, single submitter
92.
GRCh37:
Chr2:179391880
GRCh38:
Chr2:178527153
TTN, TTN-AS1F35945L, F26880L, F27005L, F33377L, F27072L, F34304LDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Oct 14, 2021)		criteria provided, single submitter
93.
GRCh37:
Chr2:179391882
GRCh38:
Chr2:178527155
TTN, TTN-AS1F27072I, F34304I, F27005I, F26880I, F33377I, F35945IAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, not provided,
Cardiomyopathy		Uncertain significance
(Jan 12, 2023)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:179391883
GRCh38:
Chr2:178527156
TTN, TTN-AS1Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not provided		Conflicting interpretations of pathogenicity
(Aug 12, 2021)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr2:179391894
GRCh38:
Chr2:178527167
TTN-AS1, TTNE26876Q, E34300Q, E35941Q, E27001Q, E33373Q, E27068QDilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2JUncertain significance
(Mar 16, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr2:179391902
GRCh38:
Chr2:178527175
TTN-AS1, TTNH26873R, H26998R, H27065R, H33370R, H34297R, H35938Rnot providedUncertain significance
(Sep 23, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr2:179391907
GRCh38:
Chr2:178527180
TTN, TTN-AS1Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GLikely benign
(Jun 8, 2021)		criteria provided, single submitter
98.
GRCh37:
Chr2:179391915
GRCh38:
Chr2:178527188
TTN, TTN-AS1G35934R, G26869R, G26994R, G33366R, G27061R, G34293RAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, Cardiovascular phenotype
Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr2:179391915
GRCh38:
Chr2:178527188
TTN, TTN-AS1G34293*, G33366*, G35934*, G26869*, G26994*, G27061*Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, not provided
Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr2:179391917
GRCh38:
Chr2:178527190
TTN, TTN-AS1G26993D, G26868D, G27060D, G33365D, G34292D, G35933DAutosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1GUncertain significance
(Aug 27, 2021)		criteria provided, single submitter
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