6335[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1541771.	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 GRCh37: Chr2:155150555-176854100 GRCh38: Chr2:154294042-175989372	ABCB11, ACVR1, ACVR1C, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BAZ2B, BAZ2B-AS1, BBS5, CCDC148, CCDC148-AS1, CD302, CDCA7, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CIR1, COBLL1, CSRNP3, CYBRD1, CYTIP, DAPL1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DPP4, DPP4-DT, DYNC1I2, ERICH2, ERICH2-DT, ERMN, FAP, FASTKD1, FIGN, FLJ46875, G6PC2, GAD1, GALNT13, GALNT13-AS1, GALNT3, GALNT5, GCA, GCG, GORASP2, GPD2, GPR155, GPR155-DT, GRB14, HAT1, IFIH1, ITGA6, ITGA6-AS1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, KLHL23, KLHL41, LINC01124, LINC01305, LINC01806, LINC01876, LINC01960, LINC02478, LNPK, LOC100130256, LOC100506124, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120624, LOC110120625, LOC110120626, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120677, LOC110120678, LOC110120701, LOC110120708, LOC110120710, LOC110120725, LOC110120730, LOC110120736, LOC110120790, LOC110120809, LOC110121120, LOC110121216, LOC110121242, LOC111413009, LOC111556122, LOC112806056, LOC112806057, LOC112806058, LOC112806059, LOC112806060, LOC114827830, LOC115945201, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC120977014, LOC120977015, LOC121725105, LOC121725106, LOC121725107, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC122861246, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC126806394, LOC126806395, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC126806412, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129934938, LOC129934939, LOC129934940, LOC129934941, LOC129934942, LOC129934943, LOC129934944, LOC129934945, LOC129934946, LOC129934947, LOC129934948, LOC129934949, LOC129934950, LOC129934951, LOC129934952, LOC129934953, LOC129934954, LOC129934955, LOC129934956, LOC129934957, LOC129934958, LOC129934959, LOC129934960, LOC129934961, LOC129934962, LOC129934963, LOC129934964, LOC129934965, LOC129934966, LOC129934967, LOC129934968, LOC129934969, LOC129934970, LOC129934971, LOC129934972, LOC129934973, LOC129934974, LOC129934975, LOC129934976, LOC129934977, LOC129934978, LOC129934979, LOC129934980, LOC129934981, LOC129934982, LOC129934983, LOC129934984, LOC129934985, LOC129934986, LOC129934987, LOC129934988, LOC129934989, LOC129934990, LOC129934991, LOC129934992, LOC129934993, LOC129934994, LOC129934995, LOC129934996, LOC129934997, LOC129934998, LOC129934999, LOC129935000, LOC129935001, LOC129935002, LOC129935003, LOC129935004, LOC129935005, LOC129935006, LOC129935007, LOC129935008, LOC129935009, LOC129935010, LOC129935011, LOC129935012, LOC129935013, LOC129935014, LOC129935015, LOC129935016, LOC129935017, LOC129935018, LOC129935019, LOC129935020, LOC129935021, LOC129935022, LOC129935023, LOC129935024, LOC129935025, LOC129935026, LOC129935027, LOC129935028, LOC129935029, LOC129935030, LOC129935031, LOC129935032, LOC129935033, LOC129935034, LOC129935035, LOC129935036, LOC129935037, LOC129935038, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069, LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC132088761, LOC132088762, LOC132088763, LOC132088764, LOC132088765, LOC132088766, LOC132088767, LOC132088768, LOC132088769, LOC132088770, LOC132088771, LOC132088772, LOC132088773, LOC132088774, LOC132088775, LOC132088776, LOC132088777, LOC132088778, LOC132088779, LOC132088780, LOC132088781, LOC132088782, LOC132088783, LOC132088784, LOC132088785, LOC132088786, LOC132088787, LOC132088788, LOC132088789, LOC132088790, LOC132088791, LOC132088792, LOC132088793, LOC132088794, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132090680, LOC132090681, LOC132090682, LOC132090683, LOC132090684, LOC132090685, LOC132090686, LOC132090687, LRP2, LY75, LY75-CD302, MAP3K20, MAP3K20-AS1, MARCHF7, METAP1D, METTL5, METTL8, MIR4774, MIR4785, MIR6888, MIR933, MYO3B, MYO3B-AS1, NOSTRIN, NR4A2, OLA1, PDK1, PDK1-AS1, PHOSPHO2, PHOSPHO2-KLHL23, PKP4, PKP4-AS1, PLA2R1, PPIG, PSMD14, PSMD14-DT, RAPGEF4, RAPGEF4-AS1, RBMS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SLC25A12, SLC38A11, SLC4A10, SNORA70F, SNORD3K, SP3, SP5, SP9, SPC25, SSB, STK39, TANC1, TANK, TANK-AS1, TBR1, TLK1, TRA-CGC3-1, TRG-GCC2-2, TTC21B, TTC21B-AS1, UBR3, UPP2, WDSUB1, WIPF1, XIRP2, XIRP2-AS1		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 591502.	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 GRCh37: Chr2:155223300-167905412 GRCh38: Chr2:154366788-167048902	ACVR1, ACVR1C, BAZ2B, BAZ2B-AS1, CCDC148, CCDC148-AS1, CD302, COBLL1, CSRNP3, CYTIP, DAPL1, DPP4, DPP4-DT, ERMN, FAP, FIGN, FLJ46875, GALNT13, GALNT13-AS1, GALNT3, GALNT5, GCA, GCG, GPD2, GRB14, IFIH1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, LINC01806, LINC01876, LINC02478, LOC100506124, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120677, LOC110120708, LOC110120710, LOC110120725, LOC110120736, LOC110121120, LOC110121242, LOC111413009, LOC111556122, LOC112806056, LOC112806057, LOC114827830, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC121725105, LOC121725106, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC126806394, LOC126806395, LOC126806396, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129388938, LOC129934938, LOC129934939, LOC129934940, LOC129934941, LOC129934942, LOC129934943, LOC129934944, LOC129934945, LOC129934946, LOC129934947, LOC129934948, LOC129934949, LOC129934950, LOC129934951, LOC129934952, LOC129934953, LOC129934954, LOC129934955, LOC129934956, LOC129934957, LOC129934958, LOC129934959, LOC129934960, LOC129934961, LOC129934962, LOC129934963, LOC129934964, LOC129934965, LOC129934966, LOC129934967, LOC129934968, LOC129934969, LOC129934970, LOC129934971, LOC129934972, LOC129934973, LOC129934974, LOC129934975, LOC129934976, LOC129934977, LOC129934978, LOC129934979, LOC129934980, LOC129934981, LOC129934982, LOC129934983, LOC129934984, LOC129934985, LOC129934986, LOC129934987, LOC129934988, LOC129934989, LOC129934990, LOC129934991, LOC129934992, LOC129934993, LOC129934994, LOC129934995, LOC129934996, LOC129934997, LOC129934998, LOC129934999, LOC129935000, LOC129935001, LOC129935002, LOC129935003, LOC129935004, LOC129935005, LOC129935006, LOC129935007, LOC129935008, LOC129935009, LOC129935010, LOC129935011, LOC129935012, LOC129935013, LOC129935014, LOC129935015, LOC129935016, LOC129935017, LOC129935018, LOC129935019, LOC129935020, LOC129935021, LOC129935022, LOC129935023, LOC129935024, LOC129935025, LOC129935026, LOC129935027, LOC129935028, LOC129935029, LOC129935030, LOC129935031, LOC129935032, LOC129935033, LOC129935034, LOC129935035, LOC129935036, LOC129935037, LOC129935038, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC132088761, LOC132088762, LOC132088763, LOC132088764, LOC132088765, LOC132088766, LOC132088767, LOC132088768, LOC132088769, LOC132088770, LOC132088771, LOC132088772, LOC132088773, LOC132088774, LOC132088775, LOC132088776, LOC132088777, LOC132088778, LOC132088779, LOC132088780, LOC132088781, LOC132088782, LOC132088783, LOC132088784, LOC132088785, LOC132088786, LOC132088787, LOC132088788, LOC132088789, LOC132088790, LOC132088791, LOC132088792, LOC132088793, LOC132090680, LOC132090681, LOC132090682, LOC132090683, LOC132090684, LOC132090685, LY75, LY75-CD302, MARCHF7, MIR4785, MIR6888, NR4A2, PKP4, PKP4-AS1, PLA2R1, PSMD14, PSMD14-DT, RBMS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, SLC4A10, SNORA70F, TANC1, TANK, TANK-AS1, WDSUB1, TBR1, TRA-CGC3-1, TRG-GCC2-2, TTC21B, TTC21B-AS1, UPP2, XIRP2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 573183.	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 GRCh37: Chr2:159238900-167462268 GRCh38: Chr2:158382388-166605758	BAZ2B, BAZ2B-AS1, CCDC148, CD302, COBLL1, CSRNP3, DAPL1, DPP4, DPP4-DT, FAP, FIGN, GALNT3, GCA, GCG, GRB14, IFIH1, ITGB6, KCNH7, KCNH7-AS1, LINC01806, LINC02478, LOC100506124, LOC101929532, LOC101929633, LOC102724058, LOC108175345, LOC108281133, LOC110120601, LOC110120676, LOC110120677, LOC110120725, LOC110121120, LOC110121242, LOC111413009, LOC112806056, LOC112806057, LOC114827830, LOC117152610, LOC117152611, LOC120977010, LOC120977011, LOC120977012, LOC120977013, LOC121725106, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC122847308, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC126806394, LOC126806395, LOC126806396, LOC129388938, LOC129934976, LOC129934977, LOC129934978, LOC129934979, LOC129934980, LOC129934981, LOC129934982, LOC129934983, LOC129934984, LOC129934985, LOC129934986, LOC129934987, LOC129934988, LOC129934989, LOC129934990, LOC129934991, LOC129934992, LOC129934993, LOC129934994, LOC129934995, LOC129934996, LOC129934997, LOC129934998, LOC129934999, LOC129935000, LOC129935001, LOC129935002, LOC129935003, LOC129935004, LOC129935005, LOC129935006, LOC129935007, LOC129935008, LOC129935009, LOC129935010, LOC129935011, LOC129935012, LOC129935013, LOC129935014, LOC129935015, LOC129935016, LOC129935017, LOC129935018, LOC129935019, LOC129935020, LOC129935021, LOC129935022, LOC129935023, LOC129935024, LOC129935025, LOC129935026, LOC129935027, LOC129935028, LOC129935029, LOC129935030, LOC129935031, LOC129935032, LOC129935033, LOC129935034, LOC129935035, LOC129935036, LOC129935037, LOC129935038, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC132088762, LOC132088763, LOC132088764, LOC132088765, LOC132088766, LOC132088767, LOC132088768, LOC132088769, LOC132088770, LOC132088771, LOC132088772, LOC132088773, LOC132088774, LOC132088775, LOC132088776, LOC132088777, LOC132088778, LOC132088779, LOC132088780, LOC132088781, LOC132088782, LOC132088783, LOC132088784, LOC132088785, LOC132088786, LOC132088787, LOC132088788, LOC132088789, LOC132088790, LOC132088791, LOC132088792, LOC132088793, LOC132090680, LOC132090681, LOC132090682, LOC132090683, LOC132090684, LOC132090685, LY75, LY75-CD302, MARCHF7, MIR4785, MIR6888, PKP4, PKP4-AS1, PLA2R1, PSMD14, PSMD14-DT, RBMS1, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, SLC4A10, SNORA70F, TANC1, TANK, TANK-AS1, TBR1, TTC21B, TTC21B-AS1, WDSUB1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 602454.	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 GRCh37: Chr2:164311800-167818832 GRCh38: Chr2:163455290-166962322	COBLL1, CSRNP3, FIGN, GALNT3, GRB14, LOC100506124, LOC101929633, LOC102724058, LOC110120601, LOC110120677, LOC110120725, LOC111413009, LOC112806057, LOC120977013, LOC121725106, LOC122847308, LOC126806394, LOC126806395, LOC126806396, LOC129388938, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, SNORA70F, TTC21B, TTC21B-AS1, XIRP2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 602485.	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 GRCh37: Chr2:164821892-183059789 GRCh38: Chr2:163965382-182195062	KLHL23, KLHL41, LINC01116, LINC01117, LINC01124, LINC01305, LINC01934, LINC01960, LNPK, LOC100129455, LOC100130256, LOC100130691, LOC100506124, LOC101927055, LOC101929633, LOC102724058, LOC105373757, 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, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129388951, LOC129388952, LOC129388953, LOC129388954, LOC129388955, LOC129388956, LOC129388957, LOC129388958, LOC129388959, LOC129388960, LOC129388961, LOC129388962, LOC129388963, LOC129388964, LOC129935039, LOC129935040, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069, LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC129935156, LOC129935157, LOC129935158, LOC129935159, LOC129935160, LOC129935161, LOC129935162, LOC129935163, LOC129935164, LOC129935165, LOC129935166, LOC129935167, LOC129935168, LOC129935169, LOC129935170, LOC129935171, LOC129935172, LOC129935173, LOC129935174, LOC129935175, LOC129935176, LOC129935177, LOC129935178, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, LOC129935187, LOC129935188, LOC129935189, LOC129935190, LOC129935191, LOC129935192, LOC129935193, LOC129935194, LOC129935195, LOC129935196, LOC129935197, LOC129935198, LOC129935199, LOC129935200, LOC129935201, LOC129935202, LOC129935203, LOC129935204, LOC129935205, LOC129935206, LOC129935207, LOC129935208, LOC129935209, LOC129935210, LOC129935211, LOC129935212, LOC129935213, LOC129935214, LOC129935215, LOC129935216, LOC129935217, LOC129935218, LOC132088794, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132088804, LOC132088805, LOC132088806, LOC132088807, LOC132088808, LOC132088809, LOC132088810, LOC132088811, LOC132088812, LOC132088813, LOC132088814, LOC132088815, LOC132090686, LOC132090687, 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, NRAL, OLA1, OSBPL6, PDE11A, PDE11A-AS1, PDE1A, PDK1, PDK1-AS1, 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, 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		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 602496.	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 GRCh37: Chr2:164922548-172962614 GRCh38: Chr2:164066038-172097886	LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC132088794, LRP2, METAP1D, METTL5, METTL8, MIR4774, MYO3B, MYO3B-AS1, NOSTRIN, PHOSPHO2, PHOSPHO2-KLHL23, PPIG, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC25A12, SLC38A11, SNORA70F, SNORD3K, SP5, SPC25, SSB, STK39, TLK1, TTC21B, TTC21B-AS1, UBR3, XIRP2, XIRP2-AS1, ABCB11, B3GALT1, B3GALT1-AS1, BBS5, CERS6, CERS6-AS1, CFAP210, COBLL1, CSRNP3, CYBRD1, DCAF17, DHRS9, DLX1, DYNC1I2, ERICH2, ERICH2-DT, FASTKD1, G6PC2, GAD1, GALNT3, GORASP2, GRB14, HAT1, KLHL23, KLHL41, LINC01124, LOC100130256, LOC100506124, LOC101929633, LOC102724058, LOC110120678, LOC110120701, LOC110120730, LOC110121216, LOC111413009, LOC112806057, LOC112806058, LOC115945201, LOC120977013, LOC120977014, LOC121725107, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129935041, LOC129935042, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 574917.	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 GRCh37: Chr2:165706627-176423918 GRCh38: Chr2:164850117-175559190	ABCB11, ATF2, ATP5MC3, B3GALT1, B3GALT1-AS1, BBS5, CDCA7, CERS6, CERS6-AS1, CFAP210, CHN1, CHRNA1, CIR1, CSRNP3, CYBRD1, DCAF17, DHRS9, DLX1, DLX2, DLX2-DT, DYNC1I2, ERICH2, ERICH2-DT, FASTKD1, G6PC2, GAD1, GALNT3, GORASP2, GPR155, GPR155-DT, HAT1, ITGA6, ITGA6-AS1, KLHL23, KLHL41, LINC01124, LINC01305, LINC01960, LOC100130256, LOC100506124, LOC102724058, LOC110120624, LOC110120625, LOC110120626, LOC110120678, LOC110120701, LOC110120730, LOC110120790, LOC110120809, LOC110121216, LOC112806058, LOC112806059, LOC112806060, LOC115945201, LOC120977013, LOC120977014, LOC120977015, LOC121725107, LOC122847309, LOC122847310, LOC122847311, LOC122847312, LOC122847313, LOC122847314, LOC122847315, LOC122847316, LOC122847317, LOC122847318, LOC122847319, LOC122847320, LOC122861240, LOC122861241, LOC122861242, LOC122861243, LOC122861244, LOC122861245, LOC126806396, LOC126806397, LOC126806398, LOC126806399, LOC126806400, LOC126806401, LOC126806402, LOC126806403, LOC126806404, LOC126806405, LOC126806406, LOC126806407, LOC126806408, LOC126806409, LOC126806410, LOC126806411, LOC129388938, LOC129388939, LOC129388940, LOC129388941, LOC129388943, LOC129388944, LOC129388945, LOC129388946, LOC129388947, LOC129388948, LOC129388949, LOC129388950, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, LOC129935049, LOC129935050, LOC129935051, LOC129935052, LOC129935053, LOC129935054, LOC129935055, LOC129935056, LOC129935057, LOC129935058, LOC129935059, LOC129935060, LOC129935061, LOC129935062, LOC129935063, LOC129935064, LOC129935065, LOC129935066, LOC129935067, LOC129935068, LOC129935069, LOC129935070, LOC129935071, LOC129935072, LOC129935073, LOC129935074, LOC129935075, LOC129935076, LOC129935077, LOC129935078, LOC129935079, LOC129935080, LOC129935081, LOC129935082, LOC129935083, LOC129935084, LOC129935085, LOC129935086, LOC129935087, LOC129935088, LOC129935089, LOC129935090, LOC129935091, LOC129935092, LOC129935093, LOC129935094, LOC129935095, LOC129935096, LOC129935097, LOC129935098, LOC129935099, LOC129935100, LOC129935101, LOC129935102, LOC129935103, LOC129935104, LOC129935105, LOC129935106, LOC129935107, LOC129935108, LOC129935109, LOC129935110, LOC129935111, LOC129935112, LOC129935113, LOC129935114, LOC129935115, LOC129935116, LOC129935117, LOC129935118, LOC129935119, LOC129935120, LOC129935121, LOC129935122, LOC129935123, LOC129935124, LOC129935125, LOC129935126, LOC129935127, LOC129935128, LOC129935129, LOC129935130, LOC129935131, LOC129935132, LOC129935133, LOC129935134, LOC129935135, LOC129935136, LOC129935137, LOC129935138, LOC129935139, LOC129935140, LOC129935141, LOC129935142, LOC129935143, LOC129935144, LOC129935145, LOC129935146, LOC129935147, LOC129935148, LOC129935149, LOC129935150, LOC129935151, LOC129935152, LOC129935153, LOC129935154, LOC129935155, LOC132088794, LOC132088795, LOC132088796, LOC132088797, LOC132088798, LOC132088799, LOC132088800, LOC132088801, LOC132088802, LOC132088803, LOC132090686, LOC132090687, LRP2, MAP3K20, MAP3K20-AS1, METAP1D, METTL5, METTL8, MIR4774, MIR933, MYO3B, MYO3B-AS1, NOSTRIN, OLA1, PDK1, PDK1-AS1, PHOSPHO2, PHOSPHO2-KLHL23, PPIG, RAPGEF4, RAPGEF4-AS1, SCN9A, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCRN3, SLC25A12, SLC38A11, SNORD3K, SP3, SP5, SP9, SPC25, SSB, STK39, TLK1, TTC21B, TTC21B-AS1, UBR3, WIPF1, XIRP2, XIRP2-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1444718.	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 GRCh37: Chr2:165777072-168392949 GRCh38: Chr2:164920562-167536439	B3GALT1, CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC122847309, LOC126806396, LOC126806397, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN7A, SCN9A, SLC38A11, TTC21B, TTC21B-AS1, XIRP2, XIRP2-AS1		See cases	Pathogenic (Apr 30, 2010)	no assertion criteria provided
Select item 6529489.	NC_000002.12:g.(?_165090130)_(166286643_?)del GRCh37: Chr2:165946640-167143153 GRCh38: Chr2:165090130-166286643	CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN9A, TTC21B, TTC21B-AS1		Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Early infantile epileptic encephalopathy with suppression bursts	Pathogenic (Aug 20, 2021)	criteria provided, single submitter
Select item 65183310.	NC_000002.12:g.(?_165090130)_(166311776_?)del GRCh37: Chr2:165946640-167168286 GRCh38: Chr2:165090130-166311776	LOC100506124, LOC102724058, LOC120977013, LOC129935043, LOC129935044, LOC126806396, LOC129388938, GALNT3, CSRNP3, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN9A, TTC21B, TTC21B-AS1		Early infantile epileptic encephalopathy with suppression bursts	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 53065411.	NC_000002.12:g.(?_165090130)_(166228992_?)del GRCh37: Chr2:165946640-167085502 GRCh38: Chr2:165090130-166228992	CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN3A, SCN9A, TTC21B, TTC21B-AS1		Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Early infantile epileptic encephalopathy with suppression bursts	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 15532112.	GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1 GRCh37: Chr2:166079508-167521122 GRCh38: Chr2:165222998-166664612	CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN2A, SCN7A, SCN9A, TTC21B, TTC21B-AS1		See cases	Pathogenic (Jun 22, 2015)	no assertion criteria provided
Select item 170740413.	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1 GRCh38: Chr2:165284919-167536383	B3GALT1, CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC122847309, LOC126806396, LOC126806397, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, SCN1A, SCN1A-AS1, SCN2A, SCN7A, SCN9A, TTC21B, TTC21B-AS1, XIRP2, XIRP2-AS1		West syndrome	Pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 65523014.	NC_000002.11:g.(?_166152314)_(167108415_?)dup GRCh37: Chr2:166152314-167108415 GRCh38: Chr2:165295804-166251905	LOC100506124, LOC129388938, LOC129935044, LOC102724058, LOC126806396, LOC129935045, LOC129935046, LOC129935047, CSRNP3, GALNT3, SCN1A, SCN1A-AS1, SCN2A, SCN9A, TTC21B, TTC21B-AS1		Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A, Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Nov 13, 2018)	criteria provided, single submitter
Select item 47107315.	NC_000002.12:g.(?_165874735)_(166311776_?)del GRCh37: Chr2:166731245-167168286 GRCh38: Chr2:165874735-166311776	LOC102724058, LOC129935046, LOC129935047, SCN1A, SCN1A-AS1, SCN9A, TTC21B, TTC21B-AS1		Early infantile epileptic encephalopathy with suppression bursts	Pathogenic (Nov 11, 2019)	criteria provided, single submitter
Select item 15460516.	GRCh38/hg38 2q24.3(chr2:165986097-166443535)x1 GRCh37: Chr2:166842607-167300045 GRCh38: Chr2:165986097-166443535	LOC102724058, SCN1A, SCN1A-AS1, SCN7A, SCN9A		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 58405117.	NC_000002.11:g.(?_166929868)_(167056374_?)dup GRCh37: Chr2:166929868-167056374 GRCh38: Chr2:166073358-166199864	SCN1A, SCN1A-AS1, SCN9A		Neuropathy, hereditary sensory and autonomic, type 2A, Generalized epilepsy with febrile seizures plus, type 7, Early infantile epileptic encephalopathy with suppression bursts	Uncertain significance (Jul 5, 2018)	criteria provided, single submitter
Select item 41744518.	NC_000002.12:g.(?_166195185)_(166204464_?)del GRCh37: Chr2:167051695-167060974 GRCh38: Chr2:166195185-166204464	SCN9A, SCN1A-AS1		Generalized epilepsy with febrile seizures plus, type 7, Neuropathy, hereditary sensory and autonomic, type 2A	Uncertain significance (Oct 17, 2016)	criteria provided, single submitter
Select item 33189519.	NM_001365536.1(SCN9A):c.*3426A>T GRCh37: Chr2:167051756 GRCh38: Chr2:166195246	SCN1A-AS1, SCN9A		Primary erythromelalgia, Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33189620.	NM_001365536.1(SCN9A):c.*3317A>G GRCh37: Chr2:167051865 GRCh38: Chr2:166195355	SCN1A-AS1, SCN9A		Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33189721.	NM_001365536.1(SCN9A):c.*3282A>C GRCh37: Chr2:167051900 GRCh38: Chr2:166195390	SCN1A-AS1, SCN9A		Small fiber neuropathy, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89440122.	NM_001365536.1(SCN9A):c.*3204G>A GRCh37: Chr2:167051978 GRCh38: Chr2:166195468	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89295423.	NM_001365536.1(SCN9A):c.*3202T>C GRCh37: Chr2:167051980 GRCh38: Chr2:166195470	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33189824.	NM_001365536.1(SCN9A):c.*3102C>T GRCh37: Chr2:167052080 GRCh38: Chr2:166195570	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 89295525.	NM_001365536.1(SCN9A):c.*3094A>G GRCh37: Chr2:167052088 GRCh38: Chr2:166195578	SCN9A, SCN1A-AS1		Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89318126.	NM_001365536.1(SCN9A):c.*3053G>A GRCh37: Chr2:167052129 GRCh38: Chr2:166195619	SCN1A-AS1, SCN9A		Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33189927.	NM_001365536.1(SCN9A):c.*3038C>T GRCh37: Chr2:167052144 GRCh38: Chr2:166195634	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Primary erythromelalgia	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33190028.	NM_001365536.1(SCN9A):c.*2986T>G GRCh37: Chr2:167052196 GRCh38: Chr2:166195686	SCN1A-AS1, SCN9A		Primary erythromelalgia, Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89402829.	NM_001365536.1(SCN9A):c.*2945C>A GRCh37: Chr2:167052237 GRCh38: Chr2:166195727	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33190130.	NM_001365536.1(SCN9A):c.*2928G>A GRCh37: Chr2:167052254 GRCh38: Chr2:166195744	SCN1A-AS1, SCN9A		Primary erythromelalgia, Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33190231.	NM_001365536.1(SCN9A):c.*2860C>T GRCh37: Chr2:167052322 GRCh38: Chr2:166195812	SCN1A-AS1, SCN9A		Small fiber neuropathy, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33190332.	NM_001365536.1(SCN9A):c.*2854T>C GRCh37: Chr2:167052328 GRCh38: Chr2:166195818	SCN1A-AS1, SCN9A		Inherited Erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33190433.	NM_001365536.1(SCN9A):c.*2744del GRCh37: Chr2:167052438 GRCh38: Chr2:166195928	SCN1A-AS1, SCN9A		Febrile seizures, familial, Congenital Indifference to Pain, Inherited Erythromelalgia, Generalized epilepsy with febrile seizures plus, Small fiber neuropathy, Severe myoclonic epilepsy in infancy, Paroxysmal extreme pain disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 89299534.	NM_001365536.1(SCN9A):c.*2729C>A GRCh37: Chr2:167052453 GRCh38: Chr2:166195943	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33190535.	NM_001365536.1(SCN9A):c.*2721C>G GRCh37: Chr2:167052461 GRCh38: Chr2:166195951	SCN1A-AS1, SCN9A		Small fiber neuropathy, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89299636.	NM_001365536.1(SCN9A):c.*2677T>C GRCh37: Chr2:167052505 GRCh38: Chr2:166195995	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33190637.	NM_001365536.1(SCN9A):c.*2662G>A GRCh37: Chr2:167052520 GRCh38: Chr2:166196010	SCN9A, SCN1A-AS1		Paroxysmal extreme pain disorder, Inherited Erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33190738.	NM_001365536.1(SCN9A):c.*2640G>A GRCh37: Chr2:167052542 GRCh38: Chr2:166196032	SCN1A-AS1, SCN9A		Small fiber neuropathy, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33190839.	NM_001365536.1(SCN9A):c.2616_2626del GRCh37: Chr2:167052556-167052566 GRCh38: Chr2:166196046-166196056	SCN1A-AS1, SCN9A		Febrile seizures, familial, Congenital Indifference to Pain, Inherited Erythromelalgia, Generalized epilepsy with febrile seizures plus, Small fiber neuropathy, Severe myoclonic epilepsy in infancy, Paroxysmal extreme pain disorder	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33190940.	NM_001365536.1(SCN9A):c.*2540C>T GRCh37: Chr2:167052642 GRCh38: Chr2:166196132	SCN1A-AS1, SCN9A		Small fiber neuropathy, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33191041.	NM_001365536.1(SCN9A):c.*2344C>T GRCh37: Chr2:167052838 GRCh38: Chr2:166196328	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Inherited Erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33191142.	NM_001365536.1(SCN9A):c.*2323G>T GRCh37: Chr2:167052859 GRCh38: Chr2:166196349	SCN1A-AS1, SCN9A		Small fiber neuropathy, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33191243.	NM_001365536.1(SCN9A):c.*2312A>T GRCh37: Chr2:167052870 GRCh38: Chr2:166196360	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Inherited Erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33191344.	NM_001365536.1(SCN9A):c.*2297A>T GRCh37: Chr2:167052885 GRCh38: Chr2:166196375	SCN1A-AS1, SCN9A		Small fiber neuropathy, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33191445.	NM_001365536.1(SCN9A):c.*2228G>T GRCh37: Chr2:167052954 GRCh38: Chr2:166196444	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Inherited Erythromelalgia, Primary erythromelalgia	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33191546.	NM_001365536.1(SCN9A):c.*2226T>G GRCh37: Chr2:167052956 GRCh38: Chr2:166196446	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Inherited Erythromelalgia, Primary erythromelalgia	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33191647.	NM_001365536.1(SCN9A):c.*2222T>C GRCh37: Chr2:167052960 GRCh38: Chr2:166196450	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia, Inherited Erythromelalgia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33191748.	NM_001365536.1(SCN9A):c.*2212T>C GRCh37: Chr2:167052970 GRCh38: Chr2:166196460	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Small fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33191849.	NM_001365536.1(SCN9A):c.*2191G>A GRCh37: Chr2:167052991 GRCh38: Chr2:166196481	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Small fiber neuropathy, Primary erythromelalgia	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33191950.	NM_001365536.1(SCN9A):c.*2155G>A GRCh37: Chr2:167053027 GRCh38: Chr2:166196517	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia, Inherited Erythromelalgia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33192051.	NM_001365536.1(SCN9A):c.*2154C>G GRCh37: Chr2:167053028 GRCh38: Chr2:166196518	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Small fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33192152.	NM_001365536.1(SCN9A):c.*2146G>C GRCh37: Chr2:167053036 GRCh38: Chr2:166196526	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia, Inherited Erythromelalgia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33192253.	NM_001365536.1(SCN9A):c.*2136C>G GRCh37: Chr2:167053046 GRCh38: Chr2:166196536	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia, Inherited Erythromelalgia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33192354.	NM_001365536.1(SCN9A):c.*2078C>T GRCh37: Chr2:167053104 GRCh38: Chr2:166196594	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Small fiber neuropathy, Paroxysmal extreme pain disorder, Primary erythromelalgia	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33192455.	NM_001365536.1(SCN9A):c.1960_1962dup GRCh37: Chr2:167053219-167053220 GRCh38: Chr2:166196709-166196710	SCN1A-AS1, SCN9A		Febrile seizures, familial, Congenital Indifference to Pain, Inherited Erythromelalgia, Generalized epilepsy with febrile seizures plus, Small fiber neuropathy, Severe myoclonic epilepsy in infancy, Paroxysmal extreme pain disorder	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 89450356.	NM_001365536.1(SCN9A):c.*1815T>C GRCh37: Chr2:167053367 GRCh38: Chr2:166196857	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33192557.	NM_001365536.1(SCN9A):c.*1796C>T GRCh37: Chr2:167053386 GRCh38: Chr2:166196876	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia, Inherited Erythromelalgia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33192658.	NM_001365536.1(SCN9A):c.*1774G>A GRCh37: Chr2:167053408 GRCh38: Chr2:166196898	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Small fiber neuropathy, Primary erythromelalgia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33192759.	NM_001365536.1(SCN9A):c.*1770A>C GRCh37: Chr2:167053412 GRCh38: Chr2:166196902	SCN1A-AS1, SCN9A		not provided, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Small fiber neuropathy, Primary erythromelalgia	Uncertain significance (Jan 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89307860.	NM_001365536.1(SCN9A):c.*1735C>A GRCh37: Chr2:167053447 GRCh38: Chr2:166196937	SCN1A-AS1, SCN9A		Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33192861.	NM_001365536.1(SCN9A):c.*1660G>A GRCh37: Chr2:167053522 GRCh38: Chr2:166197012	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Small fiber neuropathy, Primary erythromelalgia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89328962.	NM_001365536.1(SCN9A):c.*1643T>C GRCh37: Chr2:167053539 GRCh38: Chr2:166197029	SCN1A-AS1, SCN9A		Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 33192963.	NM_001365536.1(SCN9A):c.1605_1606del GRCh37: Chr2:167053576-167053577 GRCh38: Chr2:166197066-166197067	SCN1A-AS1, SCN9A		Febrile seizures, familial, Congenital Indifference to Pain, Inherited Erythromelalgia, Generalized epilepsy with febrile seizures plus, Small fiber neuropathy, Severe myoclonic epilepsy in infancy, Paroxysmal extreme pain disorder	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33193164.	NM_001365536.1(SCN9A):c.*1605T>C GRCh37: Chr2:167053577 GRCh38: Chr2:166197067	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia, Inherited Erythromelalgia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33193065.	NM_001365536.1(SCN9A):c.*1605del GRCh37: Chr2:167053577 GRCh38: Chr2:166197067	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Small fiber neuropathy, Congenital Indifference to Pain, Inherited Erythromelalgia	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33193266.	NM_001365536.1(SCN9A):c.*1492C>G GRCh37: Chr2:167053690 GRCh38: Chr2:166197180	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia, Small fiber neuropathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33193367.	NM_001365536.1(SCN9A):c.*1434dup GRCh37: Chr2:167053747-167053748 GRCh38: Chr2:166197237-166197238	SCN9A, SCN1A-AS1		Paroxysmal extreme pain disorder, Small fiber neuropathy, Congenital Indifference to Pain, Inherited Erythromelalgia	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 89413768.	NM_001365536.1(SCN9A):c.*1422T>C GRCh37: Chr2:167053760 GRCh38: Chr2:166197250	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89454169.	NM_001365536.1(SCN9A):c.*1417A>G GRCh37: Chr2:167053765 GRCh38: Chr2:166197255	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89454270.	NM_001365536.1(SCN9A):c.*1383G>T GRCh37: Chr2:167053799 GRCh38: Chr2:166197289	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33193471.	NM_001365536.1(SCN9A):c.*1357C>T GRCh37: Chr2:167053825 GRCh38: Chr2:166197315	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia, Inherited Erythromelalgia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33193572.	NM_001365536.1(SCN9A):c.*1184T>G GRCh37: Chr2:167053998 GRCh38: Chr2:166197488	SCN1A-AS1, SCN9A		Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Paroxysmal extreme pain disorder, Primary erythromelalgia, Inherited Erythromelalgia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33193673.	NM_001365536.1(SCN9A):c.1118_1119insCA GRCh37: Chr2:167054063-167054064 GRCh38: Chr2:166197553-166197554	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Small fiber neuropathy, Inherited Erythromelalgia, Congenital Indifference to Pain	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33193774.	NM_001365536.1(SCN9A):c.*1014G>A GRCh37: Chr2:167054168 GRCh38: Chr2:166197658	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Inherited Erythromelalgia	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33193875.	NM_001365536.1(SCN9A):c.*1013C>T GRCh37: Chr2:167054169 GRCh38: Chr2:166197659	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Small fiber neuropathy, Primary erythromelalgia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33193976.	NM_001365536.1(SCN9A):c.*958C>T GRCh37: Chr2:167054224 GRCh38: Chr2:166197714	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Inherited Erythromelalgia	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33194077.	NM_001365536.1(SCN9A):c.*948G>A GRCh37: Chr2:167054234 GRCh38: Chr2:166197724	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Small fiber neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33194178.	NM_001365536.1(SCN9A):c.*920T>A GRCh37: Chr2:167054262 GRCh38: Chr2:166197752	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Small fiber neuropathy	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89416779.	NM_001365536.1(SCN9A):c.*900T>C GRCh37: Chr2:167054282 GRCh38: Chr2:166197772	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89416880.	NM_001365536.1(SCN9A):c.*887T>C GRCh37: Chr2:167054295 GRCh38: Chr2:166197785	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89457681.	NM_001365536.1(SCN9A):c.*835C>A GRCh37: Chr2:167054347 GRCh38: Chr2:166197837	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33194282.	NM_001365536.1(SCN9A):c.*798dup GRCh37: Chr2:167054383-167054384 GRCh38: Chr2:166197873-166197874	SCN1A-AS1, SCN9A		Febrile seizures, familial, Congenital Indifference to Pain, Inherited Erythromelalgia, Generalized epilepsy with febrile seizures plus, Small fiber neuropathy, Severe myoclonic epilepsy in infancy, Paroxysmal extreme pain disorder	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33194383.	NM_001365536.1(SCN9A):c.*785C>T GRCh37: Chr2:167054397 GRCh38: Chr2:166197887	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Primary erythromelalgia, Small fiber neuropathy	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33194484.	NM_001365536.1(SCN9A):c.771_772dup GRCh37: Chr2:167054409-167054410 GRCh38: Chr2:166197899-166197900	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Congenital Indifference to Pain, Small fiber neuropathy, Inherited Erythromelalgia	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33194585.	NM_001365536.1(SCN9A):c.*669A>G GRCh37: Chr2:167054513 GRCh38: Chr2:166198003	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Small fiber neuropathy	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33194686.	NM_001365536.1(SCN9A):c.529_530del GRCh37: Chr2:167054652-167054653 GRCh38: Chr2:166198142-166198143	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Congenital Indifference to Pain, Small fiber neuropathy, Inherited Erythromelalgia	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 33194787.	NM_001365536.1(SCN9A):c.*491del GRCh37: Chr2:167054691 GRCh38: Chr2:166198181	SCN1A-AS1, SCN9A		Febrile seizures, familial, Congenital Indifference to Pain, Inherited Erythromelalgia, Generalized epilepsy with febrile seizures plus, Small fiber neuropathy, Paroxysmal extreme pain disorder, Severe myoclonic epilepsy in infancy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33194888.	NM_001365536.1(SCN9A):c.*416dup GRCh37: Chr2:167054765-167054766 GRCh38: Chr2:166198255-166198256	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Congenital Indifference to Pain, Small fiber neuropathy, Inherited Erythromelalgia	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 89315089.	NM_001365536.1(SCN9A):c.*410A>T GRCh37: Chr2:167054772 GRCh38: Chr2:166198262	SCN9A, SCN1A-AS1		Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89315190.	NM_001365536.1(SCN9A):c.*408A>G GRCh37: Chr2:167054774 GRCh38: Chr2:166198264	SCN1A-AS1, SCN9A		Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33194991.	NM_001365536.1(SCN9A):c.*377C>G GRCh37: Chr2:167054805 GRCh38: Chr2:166198295	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Small fiber neuropathy, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89336592.	NM_001365536.1(SCN9A):c.*362C>T GRCh37: Chr2:167054820 GRCh38: Chr2:166198310	SCN1A-AS1, SCN9A		Primary erythromelalgia, Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33195093.	NM_001365536.1(SCN9A):c.244_247dup GRCh37: Chr2:167054934-167054935 GRCh38: Chr2:166198424-166198425	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Congenital Indifference to Pain, Small fiber neuropathy, Inherited Erythromelalgia	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 89336694.	NM_001365536.1(SCN9A):c.*237C>T GRCh37: Chr2:167054945 GRCh38: Chr2:166198435	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33195195.	NM_001365536.1(SCN9A):c.*237C>G GRCh37: Chr2:167054945 GRCh38: Chr2:166198435	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Small fiber neuropathy, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33195296.	NM_001365536.1(SCN9A):c.*235T>C GRCh37: Chr2:167054947 GRCh38: Chr2:166198437	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Inherited Erythromelalgia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33195397.	NM_001365536.1(SCN9A):c.*226A>C GRCh37: Chr2:167054956 GRCh38: Chr2:166198446	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Small fiber neuropathy, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33195498.	NM_001365536.1(SCN9A):c.*217G>A GRCh37: Chr2:167054965 GRCh38: Chr2:166198455	SCN1A-AS1, SCN9A		Paroxysmal extreme pain disorder, Primary erythromelalgia, Small fiber neuropathy, Channelopathy-associated congenital insensitivity to pain, autosomal recessive	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33195599.	NM_001365536.1(SCN9A):c.*204G>A GRCh37: Chr2:167054978 GRCh38: Chr2:166198468	SCN1A-AS1, SCN9A		Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain, autosomal recessive, Inherited Erythromelalgia, Paroxysmal extreme pain disorder	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 331956100.	NM_001365536.1(SCN9A):c.165_167dup GRCh37: Chr2:167055014-167055015 GRCh38: Chr2:166198504-166198505	SCN1A-AS1, SCN9A		Febrile seizures, familial, Congenital Indifference to Pain, Inherited Erythromelalgia, Generalized epilepsy with febrile seizures plus, Small fiber neuropathy, Severe myoclonic epilepsy in infancy, Paroxysmal extreme pain disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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