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Items: 1 to 100 of 492

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:10795576-17867596
GRCh38:
Chr17:10892259-17964282
LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC132090454, LOC132090455, LOC132090456, LOC132090457, LOC132090458, LOC284191, LRRC75A, MAP2K4, MED9, MGC12916, MIR1269B, MIR1288, MIR33B, MIR4731, MIR548H3, MIR6777, MIR744, MPRIP, MYOCD, MYOCD-AS1, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SHISA6, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF18, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7, ADORA2B, ARHGAP44, ARHGAP44-AS1, CCDC144A, CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, CENPV, COPS3, COX10, COX10-DT, DNAH9, ELAC2, FAM106C, FBXW10B, FLCN, HS3ST3A1, HS3ST3B1, LINC00670, LINC02087, LINC02090, LINC02093, LOC101928350, LOC101928475, LOC105943586, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121380, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177420, LOC125177421, LOC125177425, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC126862502, LOC126862503, LOC126862504, LOC126862505, LOC126862506, LOC126862507, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390836, LOC129390837, LOC129390838, LOC129390839, LOC129390840, LOC129390841, LOC129390842, LOC129390843, LOC130060297, LOC130060298, LOC130060299, LOC130060300, LOC130060301, LOC130060302, LOC130060303, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh38:
Chr17:11915997-17892664
ADORA2B, ARHGAP44, ARHGAP44-AS1, CCDC144A, CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, CENPV, COPS3, COX10, COX10-DT, DNAH9, ELAC2, FAM106C, FBXW10B, FLCN, HS3ST3A1, HS3ST3B1, LINC00670, LINC02087, LINC02090, LINC02093, LOC101928475, LOC105943586, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121380, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177420, LOC125177421, LOC125177425, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC126862508, LOC126862509, LOC126862510, LOC126862511, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390838, LOC129390839, LOC129390840, LOC129390841, LOC129390842, LOC129390843, LOC130060297, LOC130060298, LOC130060299, LOC130060300, LOC130060301, LOC130060302, LOC130060303, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC132090454, LOC132090455, LOC132090456, LOC132090457, LOC132090458, LOC284191, LRRC75A, MAP2K4, MED9, MGC12916, MIR1269B, MIR1288, MIR33B, MIR4731, MIR548H3, MIR6777, MIR744, MPRIP, MYOCD, MYOCD-AS1, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF18, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
not specifiedPathogenic
(Sep 28, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr17:14029613-15562901
GRCh38:
Chr17:14126296-15659587
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh38:
Chr17:14170534-15591587
Hereditary liability to pressure palsies, Polyneuropathy, inflammatory demyelinating, Autosomal recessive Dejerine-Sottas syndrome
Pathogenic
(Jun 1, 2011)
no assertion criteria provided
5.
GRCh38:
Chr17:14178908-15518547
SchizophreniaLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr17:14083054-15567669
GRCh38:
Chr17:14179737-15664355
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
7.
GRCh37:
Chr17:14083054-15475087
GRCh38:
Chr17:14179737-15571773
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
8.
GRCh38:
Chr17:14183541-15573247
AutismLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr17:14087787-15490100
GRCh38:
Chr17:14184470-15586786
See casesPathogenic
(Apr 9, 2013)
no assertion criteria provided
10.
GRCh37:
Chr17:14087933-15500645
GRCh38:
Chr17:14184616-15597331
See casesPathogenic
(Feb 14, 2018)
no assertion criteria provided
11.
GRCh37:
Chr17:14087933-15491532
GRCh38:
Chr17:14184616-15588218
See casesPathogenic
(Apr 29, 2013)
no assertion criteria provided
12.
GRCh37:
Chr17:14087933-15484858
GRCh38:
Chr17:14184616-15581544
See casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
13.
GRCh37:
Chr17:14087933-15484858
GRCh38:
Chr17:14184616-15581544
See casesPathogenic
(May 16, 2014)
no assertion criteria provided
14.
GRCh37:
Chr17:14087933-15484358
GRCh38:
Chr17:14184616-15581044
See casesPathogenic
(Apr 9, 2013)
no assertion criteria provided
15.
GRCh37:
Chr17:14090300-15473590
GRCh38:
Chr17:14186983-15570276
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
16.
GRCh37:
Chr17:14090300-15467184
GRCh38:
Chr17:14186983-15563870
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr17:14090300-15482240
GRCh38:
Chr17:14186983-15578926
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr17:14111772-15442066
GRCh38:
Chr17:14208455-15538752
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
19.
GRCh37:
Chr17:14111772-15482872
GRCh38:
Chr17:14208455-15579558
See casesPathogenic
(Jan 28, 2013)
no assertion criteria provided
20.
GRCh37:
Chr17:14111772-15482872
GRCh38:
Chr17:14208455-15579558
See casesPathogenic
(May 27, 2011)
no assertion criteria provided
21.
GRCh37:
Chr17:14111772-15442069
GRCh38:
Chr17:14208455-15538755
See casesPathogenic
(Feb 14, 2012)
no assertion criteria provided
22.
GRCh37:
Chr17:14111772-15442069
GRCh38:
Chr17:14208455-15538755
See casesPathogenic
(Oct 7, 2011)
no assertion criteria provided
23.
GRCh37:
Chr17:14111772-15491748
GRCh38:
Chr17:14208455-15588434
See casesPathogenic
(Oct 14, 2010)
no assertion criteria provided
24.
GRCh37:
Chr17:14111772-15442066
GRCh38:
Chr17:14208455-15538752
See casesPathogenic
(Aug 5, 2013)
no assertion criteria provided
25.
GRCh37:
Chr17:14111772-15442066
GRCh38:
Chr17:14208455-15538752
See casesPathogenic
(Jan 24, 2011)
no assertion criteria provided
26.
GRCh37:
Chr17:14574435-15856310
GRCh38:
Chr17:14671118-15952996
See casesPathogenic
(Sep 20, 2011)
no assertion criteria provided
27.
GRCh37:
Chr17:14970116-17375771
GRCh38:
Chr17:15066799-17472457
ADORA2B, CCDC144A, CDRT3, CDRT4, CDRT8, CENPV, COPS3, FAM106C, FBXW10B, FLCN, LINC02087, LINC02090, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC125177427, LOC125177428, LOC125177429, LOC126862512, LOC126862513, LOC126862514, LOC126862515, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC132090457, LOC132090458, LOC284191, LRRC75A, MIR1288, MIR4731, MPRIP, NCOR1, NT5M, PIGL, PLD6, PMP22, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
28.
GRCh37:
Chr17:15036412-15036413
GRCh38:
Chr17:15133095-15133096
PMP22Charcot-Marie-Tooth disease, type IAPathogenic
(Jan 26, 2020)
criteria provided, single submitter
29.
GRCh37:
Chr17:15043353-15611753
GRCh38:
Chr17:15140036-15708439
See casesUncertain significance
(Aug 19, 2010)
no assertion criteria provided
30.
GRCh37:
Chr17:15093600-15856310
GRCh38:
Chr17:15190283-15952996
See casesPathogenic
(Jul 2, 2012)
no assertion criteria provided
31.
GRCh37:
Chr17:15113717-18184130
GRCh38:
Chr17:15210400-18280816
ADORA2B, ALKBH5, ATPAF2, CCDC144A, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, FAM106C, FBXW10B, FLCN, FLII, GID4, LINC02087, LINC02090, LLGL1, LOC105371566, LOC105943587, LOC106020709, LOC106020711, LOC108745275, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121852924, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC129390841, LOC129390842, LOC129390843, LOC130060307, LOC130060308, LOC130060309, LOC130060310, LOC130060311, LOC130060312, LOC130060313, LOC130060314, LOC130060315, LOC130060316, LOC130060317, LOC130060318, LOC130060319, LOC130060320, LOC130060321, LOC130060322, LOC130060323, LOC130060324, LOC130060325, LOC130060326, LOC130060327, LOC130060328, LOC130060329, LOC130060330, LOC130060331, LOC130060332, LOC130060333, LOC130060334, LOC130060335, LOC130060336, LOC130060337, LOC130060338, LOC130060339, LOC130060340, LOC130060341, LOC130060342, LOC130060343, LOC130060344, LOC130060345, LOC130060346, LOC130060347, LOC130060348, LOC130060349, LOC130060350, LOC130060351, LOC130060352, LOC130060353, LOC130060354, LOC130060355, LOC130060356, LOC130060357, LOC130060358, LOC130060359, LOC130060360, LOC130060361, LOC130060362, LOC130060363, LOC130060364, LOC130060365, LOC130060366, LOC130060367, LOC130060368, LOC130060369, LOC130060370, LOC130060371, LOC130060372, LOC130060373, LOC130060374, LOC130060375, LOC130060376, LOC130060377, LOC130060378, LOC130060379, LOC130060380, LOC130060381, LOC130060382, LOC130060383, LOC130060384, LOC130060385, LOC130060386, LOC130060387, LOC130060388, LOC130060389, LOC130060390, LOC130060391, LOC130060392, LOC130060393, LOC130060394, LOC130060395, LOC130060396, LOC130060397, LOC130060398, LOC130060399, LOC130060400, LOC130060401, LOC130060402, LOC130060403, LOC130060404, LOC130060405, LOC130060406, LOC130060407, LOC130060408, LOC130060409, LOC130060410, LOC130060411, LOC130060412, LOC130060413, LOC130060414, LOC130060415, LOC130060416, LOC130060417, LOC130060418, LOC130060419, LOC130060420, LOC130060421, LOC130060422, LOC130060423, LOC130060424, LOC130060425, LOC130060426, LOC132090457, LOC132090458, LOC284191, LRRC75A, MED9, MIEF2, MIR1288, MIR33B, MIR4731, MIR6777, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, RAI1, RAI1-AS1, RASD1, SMCR2, SMCR5, SNHG29, SNORD163, SNORD49A, SNORD49B, SNORD65, SREBF1, TBC1D26, TBC1D26-AS1, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRIM16, TRPV2, TTC19, TVP23C, TVP23C-CDRT4, UBB, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
32.
GRCh37:
Chr17:15133094-15164078
GRCh38:
Chr17:15229777-15260761
MIR4731, PMP22Charcot-Marie-Tooth disease, type IPathogenic
(Jan 26, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr17:15133094-15164078
GRCh38:
Chr17:15229777-15260761
MIR4731, PMP22Charcot-Marie-Tooth disease, type IPathogenic
(Dec 24, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr17:15133096-15165152
GRCh38:
Chr17:15229779-15261835
LOC130060307, MIR4731, PMP22Charcot-Marie-Tooth disease, type IPathogenic
(Aug 6, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr17:15133114
GRCh38:
Chr17:15229797
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type ILikely benign
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr17:15133123
GRCh38:
Chr17:15229806
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type ILikely benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr17:15133185
GRCh38:
Chr17:15229868
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr17:15133249
GRCh38:
Chr17:15229932
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr17:15133273
GRCh38:
Chr17:15229956
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr17:15133322
GRCh38:
Chr17:15230005
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IBenign
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr17:15133323
GRCh38:
Chr17:15230006
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr17:15133327
GRCh38:
Chr17:15230010
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr17:15133340
GRCh38:
Chr17:15230023
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr17:15133344
GRCh38:
Chr17:15230027
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesBenign
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr17:15133406
GRCh38:
Chr17:15230089
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type ILikely benign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr17:15133416
GRCh38:
Chr17:15230099
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr17:15133638
GRCh38:
Chr17:15230321
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr17:15133657
GRCh38:
Chr17:15230340
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type ILikely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr17:15133690
GRCh38:
Chr17:15230373
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr17:15133692
GRCh38:
Chr17:15230375
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type IUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr17:15133706-15133707
GRCh38:
Chr17:15230389-15230390
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type ILikely benign
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr17:15133858
GRCh38:
Chr17:15230541
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesBenign
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr17:15133991
GRCh38:
Chr17:15230674
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr17:15134006
GRCh38:
Chr17:15230689
PMP22not provided, Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies
Benign/Likely benign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr17:15134029
GRCh38:
Chr17:15230712
PMP22not provided, Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies
Conflicting interpretations of pathogenicity
(Jan 24, 2020)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr17:15134034
GRCh38:
Chr17:15230717
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type I, not provided
Benign
(Jan 11, 2020)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:15134036
GRCh38:
Chr17:15230719
PMP22not providedBenign
(Dec 11, 2019)
criteria provided, single submitter
58.
GRCh37:
Chr17:15134060
GRCh38:
Chr17:15230743
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr17:15134061
GRCh38:
Chr17:15230744
PMP22Hereditary liability to pressure palsies, not provided, Charcot-Marie-Tooth disease, type I
Benign/Likely benign
(Jan 23, 2020)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:15134115-15134119
GRCh38:
Chr17:15230798-15230802
PMP22Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease, type I, not provided
Benign/Likely benign
(Jun 28, 2018)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr17:15134151
GRCh38:
Chr17:15230834
PMP22Charcot-Marie-Tooth diseaseUncertain significance
(Aug 14, 2019)
no assertion criteria provided
62.
GRCh37:
Chr17:15134171
GRCh38:
Chr17:15230854
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr17:15134175
GRCh38:
Chr17:15230858
PMP22Charcot-Marie-Tooth disease, Hereditary liability to pressure palsies, not provided,
Charcot-Marie-Tooth disease, type I
Benign
(Jan 30, 2019)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr17:15134201
GRCh38:
Chr17:15230884
PMP22not providedLikely benign
(Oct 24, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr17:15134208
GRCh38:
Chr17:15230891
PMP22not provided, Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsies
Benign/Likely benign
(Sep 13, 2020)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr17:15134223
GRCh38:
Chr17:15230906
PMP22not providedLikely benign
(Jul 21, 2017)
criteria provided, single submitter
67.
GRCh37:
Chr17:15134226
GRCh38:
Chr17:15230909
PMP22not providedLikely benign
(May 28, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr17:15134228-15164050
GRCh38:
Chr17:15230911-15260733
MIR4731, PMP22Charcot-Marie-Tooth disease, type IPathogenic
(Jul 3, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr17:15134230
GRCh38:
Chr17:15230913
PMP22not providedLikely benign
(Jun 22, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr17:15134231
GRCh38:
Chr17:15230914
PMP22Charcot-Marie-Tooth disease, type I, Hereditary liability to pressure palsiesUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr17:15134236
GRCh38:
Chr17:15230919
PMP22Charcot-Marie-Tooth disease, type IUncertain significance
(Oct 18, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr17:15134239
GRCh38:
Chr17:15230922
PMP22E160KCharcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1E, Guillain-Barre syndrome, familial,
Roussy-Lévy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth disease, type IA,
Hereditary liability to pressure palsies
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr17:15134240
GRCh38:
Chr17:15230923
PMP22Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, type ILikely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:15134241
GRCh38:
Chr17:15230924
PMP22R159PCharcot-Marie-Tooth disease, type IUncertain significance
(Oct 10, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:15134241
GRCh38:
Chr17:15230924
PMP22R159HCharcot-Marie-Tooth disease, type IUncertain significance
(Nov 23, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr17:15134242
GRCh38:
Chr17:15230925
PMP22R159CCharcot-Marie-Tooth disease, type I, Inborn genetic diseasesUncertain significance
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:15134246
GRCh38:
Chr17:15230929
PMP22Charcot-Marie-Tooth disease, type I, not specified, Inborn genetic diseases
Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr17:15134248
GRCh38:
Chr17:15230931
PMP22R157GCharcot-Marie-Tooth diseaseUncertain significanceno assertion criteria provided
79.
GRCh37:
Chr17:15134248
GRCh38:
Chr17:15230931
PMP22R157WPMP22-Related Disorders, Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease,
Hereditary liability to pressure palsies
Conflicting interpretations of pathogenicity
(May 27, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr17:15134249
GRCh38:
Chr17:15230932
PMP22not specifiedUncertain significanceno assertion criteria provided
81.
GRCh37:
Chr17:15134250
GRCh38:
Chr17:15230933
PMP22L156SCharcot-Marie-Tooth diseaseUncertain significancecriteria provided, single submitter
82.
GRCh37:
Chr17:15134259
GRCh38:
Chr17:15230942
PMP22Y153CInborn genetic diseases, Charcot-Marie-Tooth disease, type IUncertain significance
(May 15, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:15134263
GRCh38:
Chr17:15230946
PMP22I152VCharcot-Marie-Tooth disease, type IUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr17:15134268
GRCh38:
Chr17:15230951
PMP22G150VCharcot-Marie-Tooth disease, type IPathogenic
(Jun 27, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr17:15134268
GRCh38:
Chr17:15230951
PMP22G150DCharcot-Marie-Tooth disease, type I, not providedPathogenic
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr17:15134269
GRCh38:
Chr17:15230952
PMP22G150SInborn genetic diseasesUncertain significance
(Dec 20, 2020)
criteria provided, single submitter
87.
GRCh37:
Chr17:15134269
GRCh38:
Chr17:15230952
PMP22G150RCharcot-Marie-Tooth disease, type I, not providedPathogenic/Likely pathogenic
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr17:15134269
GRCh38:
Chr17:15230952
PMP22G150CCharcot-Marie-Tooth disease, type I, not providedConflicting interpretations of pathogenicity
(Jun 5, 2019)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr17:15134270
GRCh38:
Chr17:15230953
PMP22Charcot-Marie-Tooth disease, type ILikely benign
(Feb 10, 2020)
criteria provided, single submitter
90.
GRCh37:
Chr17:15134270
GRCh38:
Chr17:15230953
PMP22S149Rnot providedPathogenic
(Oct 18, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr17:15134273-15134274
GRCh38:
Chr17:15230956-15230957
PMP22L148fsCharcot-Marie-Tooth diseaseUncertain significanceno assertion criteria provided
92.
GRCh37:
Chr17:15134277
GRCh38:
Chr17:15230960
PMP22L147RCharcot-Marie-Tooth diseaseUncertain significanceno assertion criteria provided
93.
GRCh37:
Chr17:15134279-15134299
GRCh38:
Chr17:15230962-15230982
PMP22Dejerine-Sottas diseaseUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:15134282
GRCh38:
Chr17:15230965
PMP22Charcot-Marie-Tooth disease, type IUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr17:15134283
GRCh38:
Chr17:15230966
PMP22L145RCharcot-Marie-Tooth disease, type ILikely pathogenic
(Sep 1, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr17:15134283-15134284
GRCh38:
Chr17:15230966-15230967
PMP22L145fsHereditary liability to pressure palsiesUncertain significanceno assertion criteria provided
97.
GRCh37:
Chr17:15134283
GRCh38:
Chr17:15230966
PMP22L145fsCharcot-Marie-Tooth disease, type I, Inborn genetic diseases, not provided,
Roussy-Lévy syndrome, Charcot-Marie-Tooth disease, type IA
Pathogenic/Likely pathogenic
(Sep 17, 2023)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr17:15134284
GRCh38:
Chr17:15230967
PMP22L145fsCharcot-Marie-Tooth disease, not providedPathogenic
(Jun 15, 2018)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr17:15134286
GRCh38:
Chr17:15230969
PMP22P144Rnot providedLikely pathogenic
(Feb 28, 2017)
criteria provided, single submitter
100.
GRCh37:
Chr17:15134291
GRCh38:
Chr17:15230974
PMP22Charcot-Marie-Tooth disease, type ILikely benign
(Mar 22, 2022)
criteria provided, single submitter
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