2132[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 588891.	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 GRCh37: Chr11:35685126-46981371 GRCh38: Chr11:35663578-46959820	LOC130005622, LOC130005623, LOC130005624, LOC130005625, LOC130005626, LOC130005627, LOC130005628, LOC130005629, LOC130005630, LOC130005631, LOC130005632, LOC130005633, LOC130005634, LOC130005635, LOC130005636, LOC130005637, LOC130005638, LOC130005639, LOC130005640, LOC130005641, LOC130005642, LOC130005643, LOC130005644, LOC130005645, LOC130005646, LOC130005647, LOC130005648, LOC130005649, LOC130005650, LOC130005651, LOC130005652, LOC130005653, LOC130005654, LOC130005655, LOC130005656, LOC130005657, LOC130005658, LOC130005659, LOC130005660, LOC130005661, LOC130005662, LOC130005663, LOC130005664, LOC130005665, LOC132089932, LOC132089933, LOC132089934, LOC132089935, LOC132089936, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, LOC132090838, LRP4, LRP4-AS1, LRRC4C, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3973, MIR4688, MIR5582, MIR670, MIR670HG, MIR7154, PEX16, PHF21A, PRDM11, PRR5L, RAG1, RAG2, SLC35C1, SNORD67, SYT13, TP53I11, TRAF6, TRIM44, TSPAN18, TTC17, ZNF408, ACCS, ACCSL, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARHGAP1, ATG13, C11orf96, CD82, CD82-AS1, CHRM4, CHST1, CKAP5, COMMD9, CREB3L1, CRY2, CSTPP1, DGKZ, EXT2, F2, FREY1, HARBI1, HSD17B12, IFTAP, LARGE2, LDLRAD3, LINC01493, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LINC02759, LINC02760, LOC100507384, LOC101928510, LOC101928894, LOC105376635, LOC110121482, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC113939922, LOC116216135, LOC116216136, LOC121392908, LOC121392909, LOC121392910, LOC121832790, LOC121832791, LOC124433245, LOC124433246, LOC124433247, LOC124433248, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC126861188, LOC126861189, LOC126861190, LOC126861191, LOC126861192, LOC126861193, LOC126861194, LOC126861195, LOC126861196, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC129390280, LOC129390281, LOC130005571, LOC130005572, LOC130005573, LOC130005574, LOC130005575, LOC130005576, LOC130005577, LOC130005578, LOC130005579, LOC130005580, LOC130005581, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC130005615, LOC130005616, LOC130005617, LOC130005618, LOC130005619, LOC130005620, LOC130005621		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1483162.	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 GRCh37: Chr11:39200802-49157287 GRCh38: Chr11:39179252-49135735	ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CD82-AS1, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LOC124433248, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC124433257, LOC124433258, LOC126861195, LOC126861196, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC126861205, LOC126861206, LOC129390281, LOC129390282, LOC129390283, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC130005615, LOC130005616, LOC130005617, LOC130005618, LOC130005619, LOC130005620, LOC130005621, LOC130005622, LOC130005623, LOC130005624, LOC130005625, LOC130005626, LOC130005627, LOC130005628, LOC130005629, LOC130005630, LOC130005631, LOC130005632, LOC130005633, LOC130005634, LOC130005635, LOC130005636, LOC130005637, LOC130005638, LOC130005639, LOC130005640, LOC130005641, LOC130005642, LOC130005643, LOC130005644, LOC130005645, LOC130005646, LOC130005647, LOC130005648, LOC130005649, LOC130005650, LOC130005651, LOC130005652, LOC130005653, LOC130005654, LOC130005655, LOC130005656, LOC130005657, LOC130005658, LOC130005659, LOC130005660, LOC130005661, LOC130005662, LOC130005663, LOC130005664, LOC130005665, LOC130005666, LOC130005667, LOC130005668, LOC130005669, LOC130005670, LOC130005671, LOC130005672, LOC130005673, LOC130005674, LOC130005675, LOC130005676, LOC130005677, LOC130005678, LOC130005679, LOC130005680, LOC130005681, LOC130005682, LOC130005683, LOC130005684, LOC130005685, LOC130005686, LOC130005687, LOC130005688, LOC130005689, LOC130005690, LOC130005691, LOC130005692, LOC130005693, LOC130005694, LOC130005695, LOC130005696, LOC130005697, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, LOC132090838, LRP4, LRP4-AS1, LRRC4C, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SLC39A13-AS1, SNORD67, SPI1, SYT13, TP53I11, TRIM49B, TRIM51G, TRIM64C, TSPAN18, TTC17, ZNF408		See cases	Pathogenic (Apr 14, 2011)	no assertion criteria provided
Select item 1543723.	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1 GRCh37: Chr11:39706376-44866811 GRCh38: Chr11:39684826-44845260	ACCS, ACCSL, ALKBH3, ALKBH3-AS1, ALX4, API5, C11orf96, CD82, CD82-AS1, EXT2, HSD17B12, LINC01499, LINC02704, LINC02740, LINC02741, LINC02745, LOC110121482, LOC112081394, LOC113939922, LOC124433248, LOC124433249, LOC126861195, LOC126861196, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC129390281, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC132089937, LOC132089938, LOC132090836, LOC132090837, LRRC4C, MIR129-2, MIR670, MIR670HG, TSPAN18, TTC17		See cases	Pathogenic (Aug 18, 2010)	no assertion criteria provided
Select item 1490514.	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3 GRCh37: Chr11:40710224-44205686 GRCh38: Chr11:40688674-44184136	ACCS, ACCSL, ALKBH3, ALKBH3-AS1, API5, C11orf96, EXT2, HSD17B12, LINC01499, LINC02740, LINC02741, LINC02745, LOC113939922, LOC124433248, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC129390281, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LRRC4C, MIR129-2, MIR670, MIR670HG, TTC17		See cases	Likely pathogenic (Mar 9, 2012)	no assertion criteria provided
Select item 1442935.	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3 GRCh37: Chr11:40710224-44934960 GRCh38: Chr11:40688674-44913409	ACCS, ACCSL, ALKBH3, ALKBH3-AS1, ALX4, API5, C11orf96, CD82, CD82-AS1, EXT2, HSD17B12, LINC01499, LINC02704, LINC02740, LINC02741, LINC02745, LOC110121482, LOC112081394, LOC113939922, LOC124433248, LOC124433249, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC129390281, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC130005615, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, LOC132090838, LRRC4C, MIR129-2, MIR670, MIR670HG, TSPAN18, TTC17		See cases	Uncertain significance (Feb 28, 2010)	no assertion criteria provided
Select item 1460796.	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 GRCh37: Chr11:41139872-48664555 GRCh38: Chr11:41118322-48643003	LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC130005615, LOC130005616, LOC130005617, LOC130005618, LOC130005619, LOC130005620, LOC130005621, LOC130005622, LOC130005623, LOC130005624, LOC130005625, LOC130005626, LOC130005627, LOC130005628, LOC130005629, LOC130005630, LOC130005631, LOC130005632, LOC130005633, LOC130005634, LOC130005635, LOC130005636, LOC130005637, LOC130005638, LOC130005639, LOC130005640, LOC130005641, LOC130005642, LOC130005643, LOC130005644, LOC130005645, LOC130005646, LOC130005647, LOC130005648, LOC130005649, LOC130005650, LOC130005651, LOC130005652, LOC130005653, LOC130005654, LOC130005655, LOC130005656, LOC130005657, LOC130005658, LOC130005659, LOC130005660, LOC130005661, LOC130005662, LOC130005663, LOC130005664, LOC130005665, LOC130005666, LOC130005667, LOC130005668, LOC130005669, LOC130005670, LOC130005671, LOC130005672, LOC130005673, LOC130005674, LOC130005675, LOC130005676, LOC130005677, LOC130005678, LOC130005679, LOC130005680, LOC130005681, LOC130005682, LOC130005683, LOC130005684, LOC130005685, LOC130005686, LOC130005687, LOC130005688, LOC130005689, LOC130005690, LOC130005691, LOC130005692, LOC130005693, LOC130005694, LOC130005695, LOC130005696, LOC130005697, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, LOC132090838, LRP4, LRP4-AS1, LRRC4C, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SLC39A13-AS1, SNORD67, SPI1, SYT13, TP53I11, TSPAN18, TTC17, ZNF408, ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CD82-AS1, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC01499, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LINC02740, LINC02741, LINC02745, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC124433257, LOC124433258, LOC126861197, LOC126861198, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC126861205, LOC126861206, LOC129390281, LOC129390282, LOC129390283, LOC130005582, LOC130005583, LOC130005584		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 1541817.	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1 GRCh37: Chr11:42575209-46136343 GRCh38: Chr11:42553659-46114792	LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC130005615, LOC130005616, LOC130005617, LOC130005618, LOC130005619, LOC130005620, LOC130005621, LOC130005622, LOC130005623, LOC130005624, LOC130005625, LOC130005626, LOC130005627, LOC130005628, LOC130005629, LOC130005630, LOC130005631, LOC130005632, LOC130005633, LOC130005634, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, LOC132090838, MAPK8IP1, MIR129-2, MIR670, MIR670HG, MIR7154, PEX16, PHF21A, PRDM11, SLC35C1, SYT13, TP53I11, TSPAN18, TTC17, ACCS, ACCSL, ALKBH3, ALKBH3-AS1, ALX4, API5, C11orf96, CD82, CD82-AS1, CHST1, CRY2, EXT2, FREY1, HSD17B12, LARGE2, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02716, LOC100507384, LOC110121482, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC113939922, LOC121392909, LOC121832791, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC129390281, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 1505958.	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 GRCh37: Chr11:42749105-49157287 GRCh38: Chr11:42727555-49135735	ACCS, ACCSL, ACP2, AGBL2, ALKBH3, ALKBH3-AS1, ALX4, AMBRA1, API5, ARFGAP2, ARHGAP1, ATG13, C11orf96, C1QTNF4, CD82, CD82-AS1, CELF1, CHRM4, CHST1, CKAP5, CREB3L1, CRY2, CSTPP1, DDB2, DGKZ, EXT2, F2, FAM180B, FNBP4, FREY1, HARBI1, HSD17B12, KBTBD4, LARGE2, LINC02489, LINC02685, LINC02687, LINC02690, LINC02696, LINC02704, LINC02710, LINC02716, LOC100507384, LOC101928894, LOC110121482, LOC111464990, LOC112081394, LOC112081395, LOC112081396, LOC112081397, LOC112081398, LOC112081399, LOC113939922, LOC113939923, LOC116216135, LOC116216136, LOC121392909, LOC121392910, LOC121392911, LOC121392912, LOC121392913, LOC121392914, LOC121832791, LOC124433249, LOC124433251, LOC124433252, LOC124433253, LOC124433254, LOC124433255, LOC124433256, LOC124433257, LOC124433258, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC126861203, LOC126861204, LOC126861205, LOC126861206, LOC129390281, LOC129390282, LOC129390283, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC130005615, LOC130005616, LOC130005617, LOC130005618, LOC130005619, LOC130005620, LOC130005621, LOC130005622, LOC130005623, LOC130005624, LOC130005625, LOC130005626, LOC130005627, LOC130005628, LOC130005629, LOC130005630, LOC130005631, LOC130005632, LOC130005633, LOC130005634, LOC130005635, LOC130005636, LOC130005637, LOC130005638, LOC130005639, LOC130005640, LOC130005641, LOC130005642, LOC130005643, LOC130005644, LOC130005645, LOC130005646, LOC130005647, LOC130005648, LOC130005649, LOC130005650, LOC130005651, LOC130005652, LOC130005653, LOC130005654, LOC130005655, LOC130005656, LOC130005657, LOC130005658, LOC130005659, LOC130005660, LOC130005661, LOC130005662, LOC130005663, LOC130005664, LOC130005665, LOC130005666, LOC130005667, LOC130005668, LOC130005669, LOC130005670, LOC130005671, LOC130005672, LOC130005673, LOC130005674, LOC130005675, LOC130005676, LOC130005677, LOC130005678, LOC130005679, LOC130005680, LOC130005681, LOC130005682, LOC130005683, LOC130005684, LOC130005685, LOC130005686, LOC130005687, LOC130005688, LOC130005689, LOC130005690, LOC130005691, LOC130005692, LOC130005693, LOC130005694, LOC130005695, LOC130005696, LOC130005697, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, LOC132090838, LRP4, LRP4-AS1, MADD, MADD-AS1, MAPK8IP1, MDK, MIR129-2, MIR3160-1, MIR3160-2, MIR3161, MIR4487, MIR4688, MIR5582, MIR670, MIR670HG, MIR6745, MIR7154, MTCH2, MYBPC3, NDUFS3, NR1H3, NUP160, OR4A47, OR4B1, OR4C3, OR4C5, OR4S1, OR4X1, OR4X2, PACSIN3, PEX16, PHF21A, PRDM11, PSMC3, PTPMT1, PTPRJ, RAPSN, SLC35C1, SLC39A13, SLC39A13-AS1, SNORD67, SPI1, SYT13, TP53I11, TRIM49B, TRIM51G, TRIM64C, TSPAN18, TTC17, ZNF408		See cases	Likely pathogenic (Aug 2, 2012)	no assertion criteria provided
Select item 17074629.	Single allele GRCh38: Chr11:42871836-44852545	ACCS, ACCSL, ALKBH3, ALKBH3-AS1, ALX4, API5, C11orf96, CD82, CD82-AS1, EXT2, HSD17B12, LINC02704, LOC110121482, LOC112081394, LOC113939922, LOC124433249, LOC126861199, LOC126861200, LOC126861201, LOC126861202, LOC129390281, LOC130005582, LOC130005583, LOC130005584, LOC130005585, LOC130005586, LOC130005587, LOC130005588, LOC130005589, LOC130005590, LOC130005591, LOC130005592, LOC130005593, LOC130005594, LOC130005595, LOC130005596, LOC130005597, LOC130005598, LOC130005599, LOC130005600, LOC130005601, LOC130005602, LOC130005603, LOC130005604, LOC130005605, LOC130005606, LOC130005607, LOC130005608, LOC130005609, LOC130005610, LOC130005611, LOC130005612, LOC130005613, LOC130005614, LOC132089937, LOC132089938, LOC132089939, LOC132089940, LOC132090836, LOC132090837, MIR129-2, MIR670, MIR670HG, TSPAN18, TTC17		not specified	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 30456310.	NM_207122.1(EXT2):c.-331T>C GRCh37: Chr11:44117102 GRCh38: Chr11:44095552	EXT2, LOC130005598		Exostoses, multiple, type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30456411.	NM_207122.1(EXT2):c.-311G>A GRCh37: Chr11:44117122 GRCh38: Chr11:44095572	EXT2, LOC130005598		Exostoses, multiple, type 2	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30456512.	NM_207122.1(EXT2):c.-307G>T GRCh37: Chr11:44117126 GRCh38: Chr11:44095576	EXT2, LOC130005598		Exostoses, multiple, type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87795613.	NM_207122.1(EXT2):c.-242G>T GRCh37: Chr11:44117191 GRCh38: Chr11:44095641	EXT2, LOC130005598		Exostoses, multiple, type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30456614.	NM_207122.2(EXT2):c.-197C>G GRCh37: Chr11:44117236 GRCh38: Chr11:44095686	EXT2, LOC130005598		Exostoses, multiple, type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30456715.	NM_207122.2(EXT2):c.-148G>A GRCh37: Chr11:44117285 GRCh38: Chr11:44095735	EXT2, LOC130005598		Exostoses, multiple, type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30456816.	NM_207122.2(EXT2):c.-61C>G GRCh37: Chr11:44117372 GRCh38: Chr11:44095822	LOC130005598, EXT2		Exostoses, multiple, type 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87811417.	NM_207122.2(EXT2):c.-45G>T GRCh37: Chr11:44117388 GRCh38: Chr11:44095838	EXT2, LOC130005598		Exostoses, multiple, type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30456918.	NM_207122.2(EXT2):c.-31+7G>T GRCh37: Chr11:44117409 GRCh38: Chr11:44095859	EXT2, LOC130005598		Exostoses, multiple, type 2, not specified, not provided	Benign (Jun 25, 2020)	criteria provided, multiple submitters, no conflicts
Select item 124877919.	NM_207122.2(EXT2):c.-31+22G>A GRCh37: Chr11:44117424 GRCh38: Chr11:44095874	EXT2, LOC130005598		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 123690220.	NM_207122.2(EXT2):c.-31+42A>G GRCh37: Chr11:44117444 GRCh38: Chr11:44095894	EXT2, LOC130005598		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 132181721.	NM_207122.2(EXT2):c.-31+106C>T GRCh37: Chr11:44117508 GRCh38: Chr11:44095958	EXT2, LOC130005598		not provided	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 169154022.	NM_207122.2(EXT2):c.-31+453A>G GRCh37: Chr11:44117855 GRCh38: Chr11:44096305	EXT2	Q18R	Exostoses, multiple, type 2	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 244540723.	NM_207122.2(EXT2):c.-31+465A>G GRCh37: Chr11:44117867 GRCh38: Chr11:44096317	EXT2	D22G	Ovarian cancer	Benign (Jan 1, 2022)	criteria provided, single submitter
Select item 118212924.	NM_207122.2(EXT2):c.-31+474G>A GRCh37: Chr11:44117876 GRCh38: Chr11:44096326	EXT2		not provided	Likely benign (Sep 6, 2019)	criteria provided, single submitter
Select item 128744525.	NM_207122.2(EXT2):c.-31+496T>G GRCh37: Chr11:44117898 GRCh38: Chr11:44096348	EXT2		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 122009826.	NM_207122.2(EXT2):c.-31+657G>A GRCh37: Chr11:44118059 GRCh38: Chr11:44096509	EXT2		not provided	Likely benign (Jan 5, 2021)	criteria provided, single submitter
Select item 128992627.	NM_207122.2(EXT2):c.-30-147A>T GRCh37: Chr11:44129086 GRCh38: Chr11:44107536	EXT2		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 132734428.	NM_207122.2(EXT2):c.-30-80A>C GRCh37: Chr11:44129153 GRCh38: Chr11:44107603	EXT2		not provided	Likely benign (Jan 22, 2021)	criteria provided, single submitter
Select item 58346329.	NC_000011.10:g.(?_44107663)_(44130158_?)del GRCh37: Chr11:44129213-44151708 GRCh38: Chr11:44107663-44130158	EXT2, LOC130005600, LOC130005601		Exostoses, multiple, type 2	Pathogenic (Feb 21, 2018)	criteria provided, single submitter
Select item 169154430.	NM_207122.2(EXT2):c.-30-10T>A GRCh37: Chr11:44129223 GRCh38: Chr11:44107673	EXT2		Multiple congenital exostosis	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 30457031.	NM_207122.2(EXT2):c.-26G>T GRCh37: Chr11:44129237 GRCh38: Chr11:44107687	EXT2	C25F	Exostoses, multiple, type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30457132.	NM_207122.2(EXT2):c.8C>T (p.Ala3Val) GRCh37: Chr11:44129270 GRCh38: Chr11:44107720	EXT2	A3V, A36V	Exostoses, multiple, type 2	Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156303733.	NM_207122.2(EXT2):c.9G>A (p.Ala3=) GRCh37: Chr11:44129271 GRCh38: Chr11:44107721	EXT2		Exostoses, multiple, type 2	Likely benign (Aug 12, 2021)	criteria provided, single submitter
Select item 30457234.	NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) GRCh37: Chr11:44129273 GRCh38: Chr11:44107723	EXT2	S37L, S4L	Seizures-scoliosis-macrocephaly syndrome, Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 158132635.	NM_207122.2(EXT2):c.18G>A (p.Lys6=) GRCh37: Chr11:44129280 GRCh38: Chr11:44107730	EXT2		Exostoses, multiple, type 2	Likely benign (Jun 1, 2021)	criteria provided, single submitter
Select item 216990936.	NM_207122.2(EXT2):c.28C>T (p.Arg10Trp) GRCh37: Chr11:44129290 GRCh38: Chr11:44107740	EXT2	R10W, R43W	Exostoses, multiple, type 2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 19544537.	NM_207122.2(EXT2):c.28C>A (p.Arg10=) GRCh37: Chr11:44129290 GRCh38: Chr11:44107740	EXT2		Exostoses, multiple, type 1, not specified, not provided, Exostoses, multiple, type 2	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 30457338.	NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) GRCh37: Chr11:44129293 GRCh38: Chr11:44107743	EXT2	G44S, G11S	Exostoses, multiple, type 2	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106209739.	NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) GRCh37: Chr11:44129299 GRCh38: Chr11:44107749	EXT2	A13T, A46T	Exostoses, multiple, type 2	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 87811540.	NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) GRCh37: Chr11:44129312 GRCh38: Chr11:44107762	EXT2	R50K, R17K	Exostoses, multiple, type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 42696641.	NM_207122.2(EXT2):c.56del (p.Lys19fs) GRCh37: Chr11:44129317 GRCh38: Chr11:44107767	EXT2	K52fs, K19fs	not provided	Pathogenic (Mar 16, 2017)	criteria provided, single submitter
Select item 151195942.	NM_207122.2(EXT2):c.61A>G (p.Lys21Glu) GRCh37: Chr11:44129323 GRCh38: Chr11:44107773	EXT2	K21E, K54E	Exostoses, multiple, type 2	Uncertain significance (Nov 23, 2021)	criteria provided, single submitter
Select item 107444743.	NM_207122.2(EXT2):c.64_68del (p.His22fs) GRCh37: Chr11:44129325-44129329 GRCh38: Chr11:44107775-44107779	EXT2	H22fs, H55fs	Exostoses, multiple, type 2	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 97034244.	NM_207122.2(EXT2):c.65A>G (p.His22Arg) GRCh37: Chr11:44129327 GRCh38: Chr11:44107777	EXT2	H22R, H55R	Exostoses, multiple, type 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 53413845.	NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) GRCh37: Chr11:44129329 GRCh38: Chr11:44107779	EXT2	R23, R56	not provided, Exostoses, multiple, type 2	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 255081346.	NM_207122.2(EXT2):c.68G>A (p.Arg23Gln) GRCh37: Chr11:44129330 GRCh38: Chr11:44107780	EXT2	R23Q, R56Q	Inborn genetic diseases	Uncertain significance (May 24, 2023)	criteria provided, single submitter
Select item 142352247.	NM_207122.2(EXT2):c.69A>T (p.Arg23=) GRCh37: Chr11:44129331 GRCh38: Chr11:44107781	EXT2		Exostoses, multiple, type 2	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 218834748.	NM_207122.2(EXT2):c.84C>A (p.Thr28=) GRCh37: Chr11:44129346 GRCh38: Chr11:44107796	EXT2		Exostoses, multiple, type 2	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 164174549.	NM_207122.2(EXT2):c.84C>T (p.Thr28=) GRCh37: Chr11:44129346 GRCh38: Chr11:44107796	EXT2		Exostoses, multiple, type 2	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 26570150.	NM_207122.2(EXT2):c.87_88del (p.Phe30fs) GRCh37: Chr11:44129347-44129348 GRCh38: Chr11:44107797-44107798	EXT2	F30fs, F63fs	not provided	Pathogenic (Aug 22, 2016)	criteria provided, single submitter
Select item 145414151.	NM_207122.2(EXT2):c.89del (p.Phe30fs) GRCh37: Chr11:44129350 GRCh38: Chr11:44107800	EXT2	F30fs, F63fs	Exostoses, multiple, type 2	Pathogenic (Apr 5, 2021)	criteria provided, single submitter
Select item 244012052.	NM_207122.2(EXT2):c.93del (p.Ile32fs) GRCh37: Chr11:44129354 GRCh38: Chr11:44107804	EXT2	I32fs, I65fs	not provided	Likely pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 115330153.	NM_207122.2(EXT2):c.93C>T (p.Ser31=) GRCh37: Chr11:44129355 GRCh38: Chr11:44107805	EXT2		Exostoses, multiple, type 2	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 141450654.	NM_207122.2(EXT2):c.94A>G (p.Ile32Val) GRCh37: Chr11:44129356 GRCh38: Chr11:44107806	EXT2	I65V, I32V	Exostoses, multiple, type 2	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 109371655.	NM_207122.2(EXT2):c.117C>T (p.Ala39=) GRCh37: Chr11:44129379 GRCh38: Chr11:44107829	EXT2		Exostoses, multiple, type 2	Likely benign (Aug 28, 2020)	criteria provided, single submitter
Select item 13420756.	NM_207122.2(EXT2):c.124A>G (p.Met42Val) GRCh37: Chr11:44129386 GRCh38: Chr11:44107836	EXT2	M42V, M75V	Exostoses, multiple, type 1, not specified, not provided, Exostoses, multiple, type 2	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 94462457.	NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer) GRCh37: Chr11:44129391-44129392 GRCh38: Chr11:44107841-44107842	EXT2		Exostoses, multiple, type 2	Pathogenic (Apr 1, 2019)	criteria provided, single submitter
Select item 71762358.	NM_207122.2(EXT2):c.143A>T (p.His48Leu) GRCh37: Chr11:44129405 GRCh38: Chr11:44107855	EXT2	H81L, H48L	not provided	Benign (Oct 3, 2017)	criteria provided, single submitter
Select item 218266959.	NM_207122.2(EXT2):c.147T>G (p.Ser49=) GRCh37: Chr11:44129409 GRCh38: Chr11:44107859	EXT2		Exostoses, multiple, type 2	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 159940960.	NM_207122.2(EXT2):c.150C>T (p.Ile50=) GRCh37: Chr11:44129412 GRCh38: Chr11:44107862	EXT2		Exostoses, multiple, type 2	Benign (Jun 20, 2022)	criteria provided, single submitter
Select item 87957361.	NM_207122.2(EXT2):c.151G>A (p.Glu51Lys) GRCh37: Chr11:44129413 GRCh38: Chr11:44107863	EXT2	E51K, E84K	Exostoses, multiple, type 2	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 134377162.	NM_207122.2(EXT2):c.156C>G (p.Ser52=) GRCh37: Chr11:44129418 GRCh38: Chr11:44107868	EXT2		not specified	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 243158563.	NM_207122.2(EXT2):c.168G>A (p.Trp56Ter) GRCh37: Chr11:44129430 GRCh38: Chr11:44107880	EXT2	W56, W89	Exostoses, multiple, type 2	Likely pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 109595564.	NM_207122.2(EXT2):c.182G>A (p.Arg61His) GRCh37: Chr11:44129444 GRCh38: Chr11:44107894	EXT2	R61H, R94H	Exostoses, multiple, type 2	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 163266865.	NM_207122.2(EXT2):c.192T>C (p.Arg64=) GRCh37: Chr11:44129454 GRCh38: Chr11:44107904	EXT2		Exostoses, multiple, type 2	Likely benign (Oct 5, 2021)	criteria provided, single submitter
Select item 87957466.	NM_207122.2(EXT2):c.198G>C (p.Val66=) GRCh37: Chr11:44129460 GRCh38: Chr11:44107910	EXT2		Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 214032867.	NM_207122.2(EXT2):c.200C>T (p.Pro67Leu) GRCh37: Chr11:44129462 GRCh38: Chr11:44107912	EXT2	P100L, P67L	Exostoses, multiple, type 2, Inborn genetic diseases	Uncertain significance (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87957568.	NM_207122.2(EXT2):c.201G>A (p.Pro67=) GRCh37: Chr11:44129463 GRCh38: Chr11:44107913	EXT2		Exostoses, multiple, type 2	Benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94879869.	NM_207122.2(EXT2):c.203_258del (p.Val68fs) GRCh37: Chr11:44129465-44129520 GRCh38: Chr11:44107915-44107970	EXT2	V68fs, V101fs	Exostoses, multiple, type 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 30457470.	NM_207122.2(EXT2):c.205G>A (p.Val69Ile) GRCh37: Chr11:44129467 GRCh38: Chr11:44107917	EXT2	V102I, V69I	Exostoses, multiple, type 2	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 241713371.	NM_207122.2(EXT2):c.210G>A (p.Arg70=) GRCh37: Chr11:44129472 GRCh38: Chr11:44107922	EXT2		Exostoses, multiple, type 2	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 158704772.	NM_207122.2(EXT2):c.211C>T (p.Leu71=) GRCh37: Chr11:44129473 GRCh38: Chr11:44107923	EXT2		Exostoses, multiple, type 2	Likely benign (Dec 1, 2020)	criteria provided, single submitter
Select item 85330673.	NM_207122.2(EXT2):c.211del (p.Leu71fs) GRCh37: Chr11:44129473 GRCh38: Chr11:44107923	EXT2	L71fs, L104fs	Exostoses, multiple, type 2	Pathogenic (Dec 19, 2019)	criteria provided, single submitter
Select item 163532974.	NM_207122.2(EXT2):c.219C>T (p.Ala73=) GRCh37: Chr11:44129481 GRCh38: Chr11:44107931	EXT2		Exostoses, multiple, type 2	Likely benign (Oct 17, 2021)	criteria provided, single submitter
Select item 101903675.	NM_207122.2(EXT2):c.226C>A (p.Pro76Thr) GRCh37: Chr11:44129488 GRCh38: Chr11:44107938	EXT2	P109T, P76T	Exostoses, multiple, type 2	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 13420976.	NM_207122.2(EXT2):c.232C>G (p.Pro78Ala) GRCh37: Chr11:44129494 GRCh38: Chr11:44107944	EXT2	P111A, P78A	not specified	not provided (Sep 19, 2013)	no assertion provided
Select item 207396377.	NM_207122.2(EXT2):c.236A>G (p.Glu79Gly) GRCh37: Chr11:44129498 GRCh38: Chr11:44107948	EXT2	E112G, E79G	Exostoses, multiple, type 2	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 145779278.	NM_207122.2(EXT2):c.244dup (p.Asp82fs) GRCh37: Chr11:44129500-44129501 GRCh38: Chr11:44107950-44107951	EXT2	D115fs, D82fs	Exostoses, multiple, type 2	Pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 100843979.	NM_207122.2(EXT2):c.238C>T (p.Arg80Trp) GRCh37: Chr11:44129500 GRCh38: Chr11:44107950	EXT2	R113W, R80W	Exostoses, multiple, type 2	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 62313380.	NM_207122.2(EXT2):c.238del (p.Arg80fs) GRCh37: Chr11:44129500 GRCh38: Chr11:44107950	EXT2	R113fs, R80fs	Exostoses, multiple, type 2	Likely pathogenic (Aug 24, 2017)	criteria provided, single submitter
Select item 85007281.	NM_207122.2(EXT2):c.239G>A (p.Arg80Gln) GRCh37: Chr11:44129501 GRCh38: Chr11:44107951	EXT2	R80Q, R113Q	Exostoses, multiple, type 2	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 46569982.	NM_207122.2(EXT2):c.244del (p.Asp82fs) GRCh37: Chr11:44129501 GRCh38: Chr11:44107951	EXT2	D115fs, D82fs	Exostoses, multiple, type 2	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 44901883.	NM_207122.2(EXT2):c.245dup (p.Asp82fs) GRCh37: Chr11:44129506-44129507 GRCh38: Chr11:44107956-44107957	EXT2	D115fs, D82fs	Exostoses, multiple, type 2, not provided	Pathogenic (Dec 20, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30457584.	NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) GRCh37: Chr11:44129507 GRCh38: Chr11:44107957	EXT2	D115A, D82A	Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Aug 27, 2021)	criteria provided, conflicting interpretations
Select item 200406485.	NM_207122.2(EXT2):c.248_249del (p.Leu83fs) GRCh37: Chr11:44129508-44129509 GRCh38: Chr11:44107958-44107959	EXT2	L83fs, L116fs	Exostoses, multiple, type 2	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 111495086.	NM_207122.2(EXT2):c.246T>C (p.Asp82=) GRCh37: Chr11:44129508 GRCh38: Chr11:44107958	EXT2		Exostoses, multiple, type 2	Likely benign (Apr 16, 2020)	criteria provided, single submitter
Select item 157384487.	NM_207122.2(EXT2):c.252T>C (p.Ser84=) GRCh37: Chr11:44129514 GRCh38: Chr11:44107964	EXT2		Exostoses, multiple, type 2	Likely benign (Oct 1, 2021)	criteria provided, single submitter
Select item 94819288.	NM_207122.2(EXT2):c.257_263del (p.Arg86fs) GRCh37: Chr11:44129515-44129521 GRCh38: Chr11:44107965-44107971	EXT2	R119fs, R86fs	Exostoses, multiple, type 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 21889489.	NM_207122.1(EXT2):c.[260T>G;283C>T] GRCh37: Chr11:44129522 Chr11:44129545 GRCh38: Chr11:44107972 Chr11:44107995	EXT2, EXT2	M120R, M87R, R95C, R128C	Seizures-scoliosis-macrocephaly syndrome	Pathogenic (Oct 1, 2015)	no assertion criteria provided
Select item 13421190.	NM_207122.2(EXT2):c.260T>G (p.Met87Arg) GRCh37: Chr11:44129522 GRCh38: Chr11:44107972	EXT2	M120R, M87R	not provided, Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 95453891.	NM_207122.2(EXT2):c.261G>A (p.Met87Ile) GRCh37: Chr11:44129523 GRCh38: Chr11:44107973	EXT2	M120I, M87I	Exostoses, multiple, type 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 30457692.	NM_207122.2(EXT2):c.264C>T (p.His88=) GRCh37: Chr11:44129526 GRCh38: Chr11:44107976	EXT2		Exostoses, multiple, type 1, not specified, Exostoses, multiple, type 2	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141409393.	NM_207122.2(EXT2):c.266C>T (p.Thr89Met) GRCh37: Chr11:44129528 GRCh38: Chr11:44107978	EXT2	T89M, T122M	Exostoses, multiple, type 2	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 109695194.	NM_207122.2(EXT2):c.267G>A (p.Thr89=) GRCh37: Chr11:44129529 GRCh38: Chr11:44107979	EXT2		Exostoses, multiple, type 2	Likely benign (Jun 24, 2020)	criteria provided, single submitter
Select item 106992995.	NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter) GRCh37: Chr11:44129544 GRCh38: Chr11:44107994	EXT2	Y127, Y94	Exostoses, multiple, type 2	Pathogenic (Oct 22, 2021)	criteria provided, single submitter
Select item 24244896.	NM_207122.2(EXT2):c.283C>T (p.Arg95Cys) GRCh37: Chr11:44129545 GRCh38: Chr11:44107995	EXT2	R95C, R128C	Exostoses, multiple, type 2	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 19544697.	NM_207122.2(EXT2):c.284G>A (p.Arg95His) GRCh37: Chr11:44129546 GRCh38: Chr11:44107996	EXT2	R128H, R95H	not provided, Exostoses, multiple, type 2	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 136275498.	NM_207122.2(EXT2):c.296A>T (p.Asn99Ile) GRCh37: Chr11:44129558 GRCh38: Chr11:44108008	EXT2	N132I, N99I	Exostoses, multiple, type 2	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 109128799.	NM_207122.2(EXT2):c.306C>T (p.Asn102=) GRCh37: Chr11:44129568 GRCh38: Chr11:44108018	EXT2		Exostoses, multiple, type 2	Likely benign (Jun 30, 2020)	criteria provided, single submitter
Select item 1319284100.	NM_207122.2(EXT2):c.307A>G (p.Lys103Glu) GRCh37: Chr11:44129569 GRCh38: Chr11:44108019	EXT2	K103E, K136E	not provided	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter

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