MIR4731[gene] - ClinVar

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Items: 39

	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 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 652966	NC_000017.10:g.(?_15134228)_(15164050_?)dup	MIR4731, PMP22	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 656830	NC_000017.11:g.(?_15239461)_(15260737_?)del	MIR4731, PMP22	Deletion	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 655765	NC_000017.10:g.(?_15142778)_(15164054_?)dup	MIR4731, PMP22	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 8446	NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del	MIR4731, PMP22	Deletion	Hereditary liability to pressure palsies +1 more	GPathogenic
Select item 58295	GRCh38/hg38 17p12(chr17:15249474-15259215)x1	MIR4731, PMP22	Copy number loss	See cases	GPathogenic

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Items: 39