| - GRCh37:
- Chr2:144657717-159178136
- GRCh38:
- Chr2:143900149-158321624
| ACVR1, ACVR1C, ACVR2A, ARL5A, ARL6IP6, CACNB4, CCDC148, CCDC148-AS1, CYTIP, EPC2, ERMN, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GPD2, GTDC1, KCNJ3, KIF5C, LINC01412, LINC01817, LINC01818, LINC01876, LINC01911, LINC01920, LINC01931, LINC01966, LINC02612, LINC02993, LOC101928386, LOC101928553, LOC101929319, LOC107228318, LOC108348024, LOC110120671, LOC110120673, LOC110120674, LOC110120675, LOC110120706, LOC110120708, LOC110120710, LOC110120715, LOC110120731, LOC110120736, LOC110121086, LOC110121209, LOC111556122, LOC111721705, LOC112806051, LOC112806054, LOC112806055, LOC115945200, LOC120961787, LOC120977009, LOC121725105, LOC122819163, LOC122819164, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC126806362, LOC126806363, LOC126806364, LOC126806365, LOC126806366, LOC126806367, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC129388929, LOC129388930, LOC129388931, LOC129388932, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129934869, LOC129934870, LOC129934871, LOC129934872, LOC129934873, LOC129934874, LOC129934875, LOC129934876, LOC129934877, LOC129934878, LOC129934879, LOC129934880, LOC129934881, LOC129934882, LOC129934883, LOC129934884, LOC129934885, LOC129934886, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC129934903, LOC129934904, LOC129934905, LOC129934906, LOC129934907, LOC129934908, LOC129934909, LOC129934910, LOC129934911, LOC129934912, LOC129934913, LOC129934914, LOC129934915, LOC129934916, LOC129934917, LOC129934918, LOC129934919, LOC129934920, LOC129934921, LOC129934922, LOC129934923, LOC129934924, LOC129934925, LOC129934926, LOC129934927, LOC129934928, LOC129934929, LOC129934930, LOC129934931, LOC129934932, LOC129934933, LOC129934934, LOC129934935, LOC129934936, LOC129934937, 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, LOC132088758, LOC132088759, LOC132088760, LOC132088761, LYPD6, LYPD6B, MBD5, MIR4773-1, MIR4773-2, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TEX41, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2, UPP2, ZEB2, ZEB2-AS1 | | See cases | Pathogenic
(Jul 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr2:146228621-150439084
- GRCh38:
- Chr2:145471053-149582570
| ACVR2A, EPC2, KIF5C, LINC01911, LOC101928553, LOC107228318, LOC110120706, LOC110120715, LOC110120731, LOC122819164, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC126806363, LOC126806364, LOC126806365, LOC126806366, LOC126806367, LOC129388930, LOC129934877, LOC129934878, LOC129934879, LOC129934880, LOC129934881, LOC129934882, LOC129934883, LOC129934884, LOC129934885, LOC129934886, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC129934903, LOC132088758, LOC132088759, LOC132088760, LYPD6, LYPD6B, MBD5, MIR9899, MMADHC, ORC4 | | See cases | Pathogenic
(Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr2:147081759-157075637
- GRCh38:
- Chr2:146324191-156219125
| ACVR2A, ARL5A, ARL6IP6, CACNB4, EPC2, FMNL2, GALNT13, GALNT13-AS1, KCNJ3, KIF5C, LINC01817, LINC01818, LINC01876, LINC01911, LINC01920, LINC01931, LINC02612, LOC101928553, LOC101929319, LOC108348024, LOC110120673, LOC110120710, LOC110120715, LOC110121086, LOC111556122, LOC112806054, LOC112806055, LOC115945200, LOC120961787, LOC120977009, LOC122819164, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC126806364, LOC126806365, LOC126806366, LOC126806367, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC129388931, LOC129388932, LOC129388933, LOC129388934, LOC129388935, LOC129934879, LOC129934880, LOC129934881, LOC129934882, LOC129934883, LOC129934884, LOC129934885, LOC129934886, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC129934903, LOC129934904, LOC129934905, LOC129934906, LOC129934907, LOC129934908, LOC129934909, LOC129934910, LOC129934911, LOC129934912, LOC129934913, LOC129934914, LOC129934915, LOC129934916, LOC129934917, LOC129934918, LOC129934919, LOC129934920, LOC129934921, LOC129934922, LOC129934923, LOC129934924, LOC129934925, LOC129934926, LOC129934927, LOC129934928, LOC129934929, LOC129934930, LOC129934931, LOC129934932, LOC129934933, LOC129934934, LOC129934935, LOC129934936, LOC129934937, LOC129934938, LOC129934939, LOC132088758, LOC132088759, LOC132088760, LYPD6, LYPD6B, MBD5, MIR4773-1, MIR4773-2, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TNFAIP6 | | See cases | Pathogenic
(Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:148009516-158712890
- GRCh38:
- Chr2:147251948-157856378
| ACVR1, ACVR1C, ACVR2A, ARL5A, ARL6IP6, CACNB4, CYTIP, EPC2, ERMN, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GPD2, KCNJ3, KIF5C, LINC01817, LINC01818, LINC01876, LINC01920, LINC01931, LINC02612, LOC101928553, LOC101929319, LOC108348024, LOC110120673, LOC110120674, LOC110120675, LOC110120708, LOC110120710, LOC110120736, LOC110121086, LOC111556122, LOC112806054, LOC112806055, LOC115945200, LOC120961787, LOC120977009, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC126806365, LOC126806366, LOC126806367, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC129388931, LOC129388932, LOC129388933, LOC129388934, LOC129388935, LOC129934882, LOC129934883, LOC129934884, LOC129934885, LOC129934886, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC129934903, LOC129934904, LOC129934905, LOC129934906, LOC129934907, LOC129934908, LOC129934909, LOC129934910, LOC129934911, LOC129934912, LOC129934913, LOC129934914, LOC129934915, LOC129934916, LOC129934917, LOC129934918, LOC129934919, LOC129934920, LOC129934921, LOC129934922, LOC129934923, LOC129934924, LOC129934925, LOC129934926, LOC129934927, LOC129934928, LOC129934929, LOC129934930, LOC129934931, LOC129934932, LOC129934933, LOC129934934, LOC129934935, LOC129934936, LOC129934937, 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, LOC132088759, LOC132088760, LOC132088761, LYPD6, LYPD6B, MBD5, MIR4773-1, MIR4773-2, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:148230762-150136354
- GRCh38:
- Chr2:147473194-149279840
| ACVR2A, EPC2, KIF5C, LOC101928553, LOC122819165, LOC122819166, LOC122819167, LOC126806366, LOC126806367, LOC129934883, LOC129934884, LOC129934885, LOC129934886, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC132088759, LOC132088760, LYPD6B, MBD5, ORC4 | | See cases | Uncertain significance
(Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:148347892-154353187
- GRCh38:
- Chr2:147590324-153496674
| MBD5, MIR4773-1, MIR4773-2, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, ORC4, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TNFAIP6, ACVR2A, ARL5A, ARL6IP6, CACNB4, EPC2, FMNL2, GALNT13, KIF5C, LINC01817, LINC01818, LINC01920, LINC01931, LINC02612, LOC101928553, LOC101929319, LOC108348024, LOC110121086, LOC112806054, LOC112806055, LOC115945200, LOC120961787, LOC120977009, LOC122819165, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC126806366, LOC126806367, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC129388931, LOC129388932, LOC129934883, LOC129934884, LOC129934885, LOC129934886, LOC129934887, LOC129934888, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC129934903, LOC129934904, LOC129934905, LOC129934906, LOC129934907, LOC129934908, LOC129934909, LOC129934910, LOC129934911, LOC129934912, LOC129934913, LOC129934914, LOC129934915, LOC129934916, LOC129934917, LOC129934918, LOC129934919, LOC129934920, LOC129934921, LOC129934922, LOC129934923, LOC129934924, LOC129934925, LOC129934926, LOC129934927, LOC129934928, LOC129934929, LOC129934930, LOC129934931, LOC129934932, LOC129934933, LOC129934934, LOC129934935, LOC129934936, LOC129934937, LOC132088759, LOC132088760, LYPD6, LYPD6B | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:148731026-149660827
- GRCh38:
- Chr2:147973457-148903258
| LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC126806366, LOC126806367, LOC129934896, LOC132088759, LOC129934887, LOC129934888, LOC129934889, EPC2, KIF5C, MBD5, ORC4 | | Intellectual disability, autosomal dominant 1 | Pathogenic
(Jun 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr2:149198443-149948302
- GRCh38:
- Chr2:148440874-149091788
| EPC2, KIF5C, LOC101928553, LOC122819165, LOC122819166, LOC122819167, LOC129934889, LOC129934890, LOC129934891, LOC129934892, LOC129934893, LOC129934894, LOC129934895, LOC129934896, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC132088759, LYPD6B, MBD5 | | See cases | Pathogenic
(Oct 24, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:149632531
- GRCh38:
- Chr2:148874962
| KIF5C | | not provided | Likely benign
(Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149632579
- GRCh38:
- Chr2:148875010
| KIF5C | | not provided | Likely benign
(Sep 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149632618
- GRCh38:
- Chr2:148875049
| KIF5C | | not provided | Likely benign
(Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149632705
- GRCh38:
- Chr2:148875136
| KIF5C, LOC129934896 | | not provided | Likely benign
(Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149632883
- GRCh38:
- Chr2:148875314
| KIF5C, LOC129934896 | | not provided | Likely benign
(Sep 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633143
- GRCh38:
- Chr2:148875574
| KIF5C | | not specified | Benign
(Aug 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633146-149633163
- GRCh38:
- Chr2:148875577-148875594
| KIF5C | | not provided | Likely benign
(Sep 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633151
- GRCh38:
- Chr2:148875582
| KIF5C | | not provided | Benign
(Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633155
- GRCh38:
- Chr2:148875586
| KIF5C | | not provided | Benign
(Aug 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633156
- GRCh38:
- Chr2:148875587
| KIF5C | | not provided | Benign
(Jun 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633156
- GRCh38:
- Chr2:148875587
| KIF5C | | not provided | Likely benign
(Jun 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633161
- GRCh38:
- Chr2:148875592
| KIF5C | | not specified | Likely benign
(Feb 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633170
- GRCh38:
- Chr2:148875601
| KIF5C | | not specified | Likely benign
(May 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633186-149633188
- GRCh38:
- Chr2:148875617-148875619
| KIF5C | M1del | not provided | Uncertain significance
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633274
- GRCh38:
- Chr2:148875705
| KIF5C | I30V | Inborn genetic diseases | Uncertain significance
(Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633294
- GRCh38:
- Chr2:148875725
| KIF5C | | not provided | Likely benign
(Feb 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633302
- GRCh38:
- Chr2:148875733
| KIF5C | V39A | not provided | Uncertain significance
(Mar 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633358
- GRCh38:
- Chr2:148875789
| KIF5C | | not provided | Benign
(Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149633557
- GRCh38:
- Chr2:148875988
| KIF5C | | not provided | Likely benign
(Mar 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149674855-164061133
- GRCh38:
- Chr2:148917286-163204623
| ACVR1, ACVR1C, ARL5A, ARL6IP6, BAZ2B, BAZ2B-AS1, CACNB4, CCDC148, CCDC148-AS1, CD302, CYTIP, DAPL1, DPP4, DPP4-DT, ERMN, FAP, FLJ46875, FMNL2, GALNT13, GALNT13-AS1, GALNT5, GCA, GCG, GPD2, IFIH1, ITGB6, KCNH7, KCNH7-AS1, KCNJ3, KIF5C, LINC01806, LINC01817, LINC01818, LINC01876, LINC01920, LINC01931, LINC02478, LINC02612, LOC101928553, LOC101929319, LOC101929532, LOC108175345, LOC108281133, LOC108348024, LOC110120673, LOC110120674, LOC110120675, LOC110120676, LOC110120708, LOC110120710, LOC110120736, LOC110121086, LOC110121120, LOC110121242, LOC111556122, LOC112806054, LOC112806055, LOC112806056, LOC114827830, LOC115945200, LOC117152610, LOC117152611, LOC120961787, LOC120977009, LOC120977010, LOC120977011, LOC120977012, LOC121725105, LOC122819166, LOC122819167, LOC122847293, LOC122847294, LOC122847295, LOC122847296, LOC122847297, LOC122847298, LOC122847299, LOC122847300, LOC122847301, LOC122847302, LOC122847303, LOC122847304, LOC122847305, LOC122847306, LOC122847307, LOC126806368, LOC126806369, LOC126806370, LOC126806371, LOC126806372, LOC126806373, LOC126806374, LOC126806375, LOC126806376, LOC126806377, LOC126806378, LOC126806379, LOC126806380, LOC126806381, LOC126806382, LOC126806383, LOC126806384, LOC126806385, LOC126806386, LOC126806387, LOC126806388, LOC126806389, LOC126806390, LOC126806391, LOC126806392, LOC126806393, LOC129388931, LOC129388932, LOC129388933, LOC129388934, LOC129388935, LOC129388936, LOC129388937, LOC129934897, LOC129934898, LOC129934899, LOC129934900, LOC129934901, LOC129934902, LOC129934903, LOC129934904, LOC129934905, LOC129934906, LOC129934907, LOC129934908, LOC129934909, LOC129934910, LOC129934911, LOC129934912, LOC129934913, LOC129934914, LOC129934915, LOC129934916, LOC129934917, LOC129934918, LOC129934919, LOC129934920, LOC129934921, LOC129934922, LOC129934923, LOC129934924, LOC129934925, LOC129934926, LOC129934927, LOC129934928, LOC129934929, LOC129934930, LOC129934931, LOC129934932, LOC129934933, LOC129934934, LOC129934935, LOC129934936, LOC129934937, 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, LOC132088760, 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, LOC132090680, LOC132090681, LOC132090682, LOC132090683, LOC132090684, LOC132090685, LY75, LY75-CD302, LYPD6, LYPD6B, MARCHF7, MIR4773-1, MIR4773-2, MIR4785, MIR6888, MIR9899, MMADHC, MMADHC-DT, NEB, NMI, NR4A2, PKP4, PKP4-AS1, PLA2R1, PRPF40A, PSMD14, PSMD14-DT, RBM43, RBMS1, RIF1, RND3, RPRM, SLC4A10, STAM2, TANC1, TANK, TANK-AS1, TBR1, TNFAIP6, TRA-CGC3-1, TRG-GCC2-2, UPP2, WDSUB1 | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149679486
- GRCh38:
- Chr2:148921917
| KIF5C, LOC101928553 | | not provided | Likely benign
(Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149679632
- GRCh38:
- Chr2:148922063
| KIF5C, LOC101928553 | | not provided | Likely benign
(Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149679717
- GRCh38:
- Chr2:148922148
| KIF5C, LOC101928553 | | not provided | Benign
(Sep 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149679734
- GRCh38:
- Chr2:148922165
| KIF5C, LOC101928553 | V52A | Inborn genetic diseases | Uncertain significance
(Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149679958
- GRCh38:
- Chr2:148922389
| KIF5C, LOC101928553 | | not provided | Benign
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149686755
- GRCh38:
- Chr2:148929186
| KIF5C | | not provided | Likely benign
(Oct 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149686897
- GRCh38:
- Chr2:148929328
| KIF5C | S89P | Complex cortical dysplasia with other brain malformations 2 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:149686897-149686899
- GRCh38:
- Chr2:148929328-148929330
| KIF5C | S90del | not provided | Pathogenic
(Feb 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149686907
- GRCh38:
- Chr2:148929338
| KIF5C | K92R | not provided | Likely pathogenic
(Mar 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149686910
- GRCh38:
- Chr2:148929341
| KIF5C | T93I | not provided | Pathogenic
(Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149687042
- GRCh38:
- Chr2:148929473
| KIF5C | | not provided | Likely benign
(Sep 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149793551
- GRCh38:
- Chr2:148937037
| KIF5C | | not provided | Benign
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149793612
- GRCh38:
- Chr2:148937098
| KIF5C | | not provided | Benign
(Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149793789
- GRCh38:
- Chr2:148937275
| KIF5C | | not provided | Benign
(Oct 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149793868
- GRCh38:
- Chr2:148937354
| KIF5C | Y121C | not provided | Uncertain significance
(Jan 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149798112
- GRCh38:
- Chr2:148941598
| KIF5C | | not specified | Likely benign
(Oct 6, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149798184
- GRCh38:
- Chr2:148941670
| KIF5C | | not specified | Likely benign
(Jul 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149798213
- GRCh38:
- Chr2:148941699
| KIF5C | | not provided | Benign
(Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149798490
- GRCh38:
- Chr2:148941976
| KIF5C | V163L | not provided | Uncertain significance
(Apr 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149798512
- GRCh38:
- Chr2:148941998
| KIF5C | | not specified | Benign
(Feb 19, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149798803
- GRCh38:
- Chr2:148942289
| KIF5C | | not provided | Benign
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149798919
- GRCh38:
- Chr2:148942405
| KIF5C | | not provided | Benign
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149799210
- GRCh38:
- Chr2:148942696
| KIF5C | | not provided | Benign
(Sep 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149799216
- GRCh38:
- Chr2:148942702
| KIF5C | | not specified | Benign
(Jan 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149799256
- GRCh38:
- Chr2:148942742
| KIF5C | R191* | Complex cortical dysplasia with other brain malformations 2 | Uncertain significance
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149799261
- GRCh38:
- Chr2:148942747
| KIF5C | | not provided | Conflicting interpretations of pathogenicity
(Aug 29, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:149799265
- GRCh38:
- Chr2:148942751
| KIF5C | A194T | KIF5C-related condition | Uncertain significance
(Feb 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149799281
- GRCh38:
- Chr2:148942767
| KIF5C | | not specified | Likely benign
(Nov 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149799340
- GRCh38:
- Chr2:148942826
| KIF5C | | not provided | Likely benign
(Jul 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149799341
- GRCh38:
- Chr2:148942827
| KIF5C | | not provided | Likely benign
(Mar 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149803106
- GRCh38:
- Chr2:148946592
| KIF5C | | not provided | Benign
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149803357
- GRCh38:
- Chr2:148946843
| KIF5C | | not provided | Benign
(Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149803433
- GRCh38:
- Chr2:148946919
| KIF5C | R204G | Complex cortical dysplasia with other brain malformations 2 | Uncertain significance
(Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149803531
- GRCh38:
- Chr2:148947017
| KIF5C | | not provided | Benign
(Aug 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149803532
- GRCh38:
- Chr2:148947018
| KIF5C | E237K | Complex cortical dysplasia with other brain malformations 2, not provided | Pathogenic
(Jun 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:149803533
- GRCh38:
- Chr2:148947019
| KIF5C | E237G | Complex cortical dysplasia with other brain malformations 2 | Likely pathogenic
(Mar 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149803533
- GRCh38:
- Chr2:148947019
| KIF5C | E237V | Complex cortical dysplasia with other brain malformations 2 | Pathogenic
(Jun 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:149806314
- GRCh38:
- Chr2:148949800
| KIF5C | | not provided | Benign
(Aug 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806388
- GRCh38:
- Chr2:148949874
| KIF5C | | not specified | Benign
(Jan 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806409
- GRCh38:
- Chr2:148949895
| KIF5C | | not provided | Likely benign
(Feb 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806440
- GRCh38:
- Chr2:148949926
| KIF5C | A268S | not provided | Likely benign
(Jul 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806472
- GRCh38:
- Chr2:148949958
| KIF5C | | not specified | Benign
(Jul 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806481
- GRCh38:
- Chr2:148949967
| KIF5C | | not provided | Likely benign
(Jan 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806518
- GRCh38:
- Chr2:148950004
| KIF5C | | not provided | Likely benign
(Oct 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806596
- GRCh38:
- Chr2:148950082
| KIF5C | | not provided | Likely benign
(Aug 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806730
- GRCh38:
- Chr2:148950216
| KIF5C | | not provided | Likely benign
(Sep 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806769
- GRCh38:
- Chr2:148950255
| KIF5C | | not provided | Benign
(Jun 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806815
- GRCh38:
- Chr2:148950301
| KIF5C | | not specified | Likely benign
(Aug 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806824
- GRCh38:
- Chr2:148950310
| KIF5C | | not specified | Uncertain significance
(Aug 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806846
- GRCh38:
- Chr2:148950332
| KIF5C | | not provided | Benign
(Sep 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806864
- GRCh38:
- Chr2:148950350
| KIF5C | R286W | Developmental disorder | Uncertain significance
(Jan 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149806960
- GRCh38:
- Chr2:148950446
| KIF5C | L318M | Complex cortical dysplasia with other brain malformations 2 | Uncertain significance
(Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149807071
- GRCh38:
- Chr2:148950557
| KIF5C | | not provided | Likely benign
(Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149807179
- GRCh38:
- Chr2:148950665
| KIF5C | | not provided | Likely benign
(Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149807183
- GRCh38:
- Chr2:148950669
| KIF5C | | not provided | Benign
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149807191
- GRCh38:
- Chr2:148950677
| KIF5C | | not provided | Likely benign
(Dec 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818191
- GRCh38:
- Chr2:148961677
| KIF5C | | not provided | Likely benign
(Dec 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818270
- GRCh38:
- Chr2:148961756
| KIF5C | | not provided | Benign
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818299
- GRCh38:
- Chr2:148961785
| KIF5C | | not provided | Benign
(Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818349
- GRCh38:
- Chr2:148961835
| KIF5C | | not provided | Likely benign
(Jul 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818465
- GRCh38:
- Chr2:148961951
| KIF5C | | not specified | Likely benign
(Apr 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818534
- GRCh38:
- Chr2:148962020
| KIF5C | E340K | Complex cortical dysplasia with other brain malformations 2 | Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr2:149818673
- GRCh38:
- Chr2:148962159
| KIF5C | | not provided | Benign
(Aug 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818825
- GRCh38:
- Chr2:148962311
| KIF5C | | not provided | Benign
(Jun 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818825
- GRCh38:
- Chr2:148962311
| KIF5C | | not provided | Likely benign
(Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818855-149818856
- GRCh38:
- Chr2:148962341-148962342
| KIF5C | | not provided | Benign
(Dec 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818856
- GRCh38:
- Chr2:148962342
| KIF5C | | not provided | Likely benign
(Oct 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818894
- GRCh38:
- Chr2:148962380
| KIF5C | | not provided | Likely benign
(Dec 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149818937
- GRCh38:
- Chr2:148962423
| KIF5C | | not provided | Benign
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149829803
- GRCh38:
- Chr2:148973289
| KIF5C | | not provided | Benign
(Jun 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149829919
- GRCh38:
- Chr2:148973405
| KIF5C | T396N | Complex cortical dysplasia with other brain malformations 2 | Uncertain significance
(May 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:149829922
- GRCh38:
- Chr2:148973408
| KIF5C | P397R | Complex cortical dysplasia with other brain malformations 2 | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |