5376[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 58100	GRCh38/hg38 17p12(chr17:14126296-15659587)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 8430	NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del	CDRT15, CDRT3 +25 more	Deletion	Autosomal recessive Dejerine-Sottas syndrome +2 more	GPathogenic
Select item 545215	NC_000017.11:g.(?_14178908)_(15518547_?)del	CDRT15, CDRT3 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 154234	GRCh38/hg38 17p12(chr17:14179737-15664355)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 154140	GRCh38/hg38 17p12(chr17:14179737-15571773)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 545216	NC_000017.11:g.(?_14183541)_(15573247_?)del	CDRT15, CDRT3 +25 more	Deletion	Autism	GLikely pathogenic
Select item 155232	GRCh38/hg38 17p12(chr17:14184470-15586786)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 155236	GRCh38/hg38 17p12(chr17:14184616-15597331)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 153289	GRCh38/hg38 17p12(chr17:14184616-15588218)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153241	GRCh38/hg38 17p12(chr17:14184616-15581544)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153240	GRCh38/hg38 17p12(chr17:14184616-15581544)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152376	GRCh38/hg38 17p12(chr17:14184616-15581044)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152875	GRCh38/hg38 17p12(chr17:14186983-15570276)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 58103	GRCh38/hg38 17p12(chr17:14186983-15563870)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 58102	GRCh38/hg38 17p12(chr17:14186983-15578926)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 160871	GRCh38/hg38 17p12(chr17:14208455-15538752)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 154772	GRCh38/hg38 17p12(chr17:14208455-15579558)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 149424	GRCh38/hg38 17p12(chr17:14208455-15579558)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 148562	GRCh38/hg38 17p12(chr17:14208455-15538755)x1	CDRT15, CDRT3 +21 more	Copy number loss	See cases	GPathogenic
Select item 148561	GRCh38/hg38 17p12(chr17:14208455-15538755)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 147669	GRCh38/hg38 17p12(chr17:14208455-15588434)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 33735	GRCh38/hg38 17p12(chr17:14208455-15538752)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 32888	GRCh38/hg38 17p12(chr17:14208455-15538752)x1	CDRT15, CDRT3 +21 more	Copy number loss	See cases	GPathogenic
Select item 148716	GRCh38/hg38 17p12(chr17:14671118-15952996)x1	ADORA2B, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 977285	NC_000017.11:g.15133096_15164093dup	PMP22	Duplication	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 154394	GRCh38/hg38 17p12(chr17:15140036-15708439)x3	CDRT3, CDRT4 +15 more	Copy number gain	See cases	GUncertain significance
Select item 150382	GRCh38/hg38 17p12(chr17:15190283-15952996)x3	ADORA2B, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 237630	NM_000304.3(PMP22):c.-34-?_*1140dup1657	MIR4731, PMP22	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 237629	NM_000304.3(PMP22):c.-34-?_*1140del	MIR4731, PMP22	Deletion	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 660675	NC_000017.10:g.(?_15133096)_(15165152_?)dup	LOC130060307, MIR4731 +1 more	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 321845	NM_000304.4(PMP22):c.*1120T>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 321846	NM_000304.4(PMP22):c.*1111G>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 321847	NM_000304.4(PMP22):c.*1049C>G	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GUncertain significance
Select item 321848	NM_000304.4(PMP22):c.*985C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GUncertain significance
Select item 892221	NM_000304.4(PMP22):c.*961C>G	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 321849	NM_000304.4(PMP22):c.*912G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign
Select item 888798	NM_000304.4(PMP22):c.*911C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GUncertain significance
Select item 888799	NM_000304.4(PMP22):c.*907C>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 888800	NM_000304.4(PMP22):c.*894C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 890503	NM_000304.4(PMP22):c.*890C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
Select item 321850	NM_000304.4(PMP22):c.*828G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GLikely benign
Select item 890504	NM_000304.4(PMP22):c.*818T>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 891068	NM_000304.4(PMP22):c.*596G>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 321851	NM_000304.4(PMP22):c.*577T>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +2 more	GLikely benign
Select item 891069	NM_000304.4(PMP22):c.*544C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 321852	NM_000304.4(PMP22):c.*542C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GUncertain significance
Select item 321853	NM_000304.4(PMP22):c.*525CT[1]	PMP22	Microsatellite (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +1 more	GLikely benign
Select item 892285	NM_000304.4(PMP22):c.*376C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GBenign
Select item 321854	NM_000304.4(PMP22):c.*243C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 321855	NM_000304.4(PMP22):c.*228G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign/Likely benign
Select item 321856	NM_000304.4(PMP22):c.*205C>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GConflicting classifications of pathogenicity
Select item 888884	NM_000304.4(PMP22):c.*200T>G	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign
Select item 1273523	NM_000304.4(PMP22):c.*198C>G	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 890582	NM_000304.4(PMP22):c.*174G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 321857	NM_000304.4(PMP22):c.*173C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign/Likely benign
Select item 3339926	NM_000304.4(PMP22):c.*169T>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 321858	NM_000304.4(PMP22):c.*105CAAAC[2]	PMP22	Microsatellite (3 prime UTR variant +1 more)	Hereditary liability to pressure palsies +2 more	GBenign/Likely benign
Select item 694890	NM_000304.4(PMP22):c.*83del	PMP22	Deletion (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 890583	NM_000304.4(PMP22):c.*63A>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 321859	NM_000304.4(PMP22):c.*59A>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 1678766	NM_000304.4(PMP22):c.*33G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 321860	NM_000304.4(PMP22):c.*26T>C	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GBenign/Likely benign
Select item 1218983	NM_000304.4(PMP22):c.*11C>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1195643	NM_000304.4(PMP22):c.*8A>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 652966	NC_000017.10:g.(?_15134228)_(15164050_?)dup	MIR4731, PMP22	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 1194039	NM_000304.4(PMP22):c.*4G>A	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 321861	NM_000304.4(PMP22):c.*3C>T	PMP22	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 1450928	NM_000304.4(PMP22):c.481T>C (p.Ter161Arg)	PMP22	Single nucleotide variant (stop lost +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2823436	NM_000304.4(PMP22):c.480A>G (p.Glu160=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 462781	NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	PMP22 (E160K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +7 more	GUncertain significance
Select item 916813	NM_000304.4(PMP22):c.477C>T (p.Arg159=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 580036	NM_000304.4(PMP22):c.476G>C (p.Arg159Pro)	PMP22 (R159P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 570254	NM_000304.4(PMP22):c.476G>A (p.Arg159His)	PMP22 (R159H)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 637831	NM_000304.4(PMP22):c.475C>T (p.Arg159Cys)	PMP22 (R159C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 388911	NM_000304.4(PMP22):c.471G>A (p.Arg157=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I +2 more	GLikely benign
Select item 637387	NM_000304.4(PMP22):c.469C>G (p.Arg157Gly)	PMP22 (R157G)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 8444	NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)	PMP22 (R157W)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +3 more	GConflicting classifications of pathogenicity
Select item 637425	NM_000304.4(PMP22):c.468G>A (p.Leu156=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 917226	NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)	PMP22 (L156S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 1400754	NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys)	PMP22 (Y153C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 531700	NM_000304.4(PMP22):c.454A>G (p.Ile152Val)	PMP22 (I152V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 433198	NM_000304.4(PMP22):c.449G>T (p.Gly150Val)	PMP22 (G150V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 245805	NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)	PMP22 (G150D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1740959	NM_000304.4(PMP22):c.448G>A (p.Gly150Ser)	PMP22 (G150S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 384327	NM_000304.4(PMP22):c.448G>C (p.Gly150Arg)	PMP22 (G150R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GPathogenic
Select item 8439	NM_000304.4(PMP22):c.448G>T (p.Gly150Cys)	PMP22 (G150C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 703486	NM_000304.4(PMP22):c.447C>T (p.Ser149=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 234605	NM_000304.4(PMP22):c.447C>A (p.Ser149Arg)	PMP22 (S149R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 637840	NM_000304.4(PMP22):c.443_444del (p.Leu148fs)	PMP22 (L148fs)	Microsatellite (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 2913861	NM_000304.4(PMP22):c.440T>C (p.Leu147Pro)	PMP22 (L147P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 637381	NM_000304.4(PMP22):c.440T>G (p.Leu147Arg)	PMP22 (L147R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 2722128	NM_000304.4(PMP22):c.438C>T (p.Ala146=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2500122	NM_000304.4(PMP22):c.418_438del (p.Trp140_Ala146del)	PMP22	Deletion (inframe_deletion +1 more)	Dejerine-Sottas disease	GUncertain significance
Select item 999380	NM_000304.4(PMP22):c.435G>A (p.Leu145=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1046822	NM_000304.4(PMP22):c.434T>G (p.Leu145Arg)	PMP22 (L145R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 637424	NM_000304.4(PMP22):c.433dup (p.Leu145fs)	PMP22 (L145fs)	Duplication (frameshift variant +1 more)	Hereditary liability to pressure palsies	GUncertain significance

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