TVP23C-CDRT4[gene] - 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	CDRT7, CDRT8 +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 3392523	NC_000017.11:g.14193766_15590127del	CDRT15, CDRT3 +25 more	Deletion	Hereditary liability to pressure palsies	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 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 2617939	NM_001204477.2(CDRT4):c.445A>G (p.Thr149Ala)	CDRT4, TVP23C-CDRT4 (T149A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2235234	NM_001204477.2(CDRT4):c.428T>C (p.Met143Thr)	CDRT4, TVP23C-CDRT4 (M143T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2486262	NM_001204477.2(CDRT4):c.419G>T (p.Arg140Leu)	CDRT4, TVP23C-CDRT4 (R140L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2215444	NM_001204477.2(CDRT4):c.419G>A (p.Arg140His)	CDRT4, TVP23C-CDRT4 (R140H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141727	NM_001204477.2(CDRT4):c.310G>A (p.Ala104Thr)	CDRT4, TVP23C-CDRT4 (A104T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3489761	NM_001204477.2(CDRT4):c.301A>G (p.Met101Val)	CDRT4, TVP23C-CDRT4 (M101V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2484891	NM_001204477.2(CDRT4):c.290C>A (p.Ser97Tyr)	CDRT4, TVP23C-CDRT4 (S97Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3489763	NM_001204477.2(CDRT4):c.233G>A (p.Arg78Lys)	CDRT4, TVP23C-CDRT4 (R78K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3265613	NM_001204477.2(CDRT4):c.179A>G (p.Glu60Gly)	CDRT4, TVP23C-CDRT4 (E60G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2370756	NM_001204477.2(CDRT4):c.89C>T (p.Pro30Leu)	CDRT4, TVP23C-CDRT4 (P30L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2510869	NM_001204477.2(CDRT4):c.58C>T (p.Arg20Trp)	TVP23C-CDRT4, CDRT4 (R20W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3141726	NM_001204477.2(CDRT4):c.16A>G (p.Met6Val)	CDRT4, TVP23C-CDRT4 (M6V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2297508	NM_001204477.2(CDRT4):c.14G>A (p.Arg5Lys)	CDRT4, TVP23C-CDRT4 (R5K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2681630	NM_145301.3(TVP23C):c.549A>T (p.Ile183=)	TVP23C, TVP23C-CDRT4	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 3148867	GRCh37/hg19 17p12(chr17:14070220-15482833)x1	CDRT15, CDRT4 +6 more	Copy number loss	See cases	GPathogenic
Select item 3148860	GRCh37/hg19 17p12(chr17:14073536-15503234)x1	CDRT15, CDRT4 +7 more	Copy number loss	See cases	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2672715	GRCh37/hg19 17p12(chr17:14095306-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 2671610	Single allele	CDRT15, CDRT4 +6 more	Deletion	not provided	GPathogenic
Select item 2580345	GRCh37/hg19 17p12(chr17:14095256-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease type 1E	GPathogenic
Select item 2580333	GRCh37/hg19 17p12(chr17:14095256-15477547)x1	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 2498729	GRCh37/hg19 17p12(chr17:14095306-15472344)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 2498728	GRCh37/hg19 17p12(chr17:14095306-15466762)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1879390	GRCh37/hg19 17p12(chr17:14110127-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808978	GRCh37/hg19 17p12(chr17:14078283-15479940)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808684	GRCh37/hg19 17p12(chr17:14087934-15491532)x1	HS3ST3B1, CDRT15 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808667	GRCh37/hg19 17p12(chr17:14083055-15484859)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808665	GRCh37/hg19 17p12(chr17:14087934-15484358)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808614	GRCh37/hg19 17p12(chr17:14073563-15479923)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808605	GRCh37/hg19 17p12(chr17:14087934-15483608)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808529	GRCh37/hg19 17p12(chr17:14077819-15491532)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807927	GRCh37/hg19 17p12(chr17:14087788-15484858)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807821	GRCh37/hg19 17p12(chr17:14083055-15483608)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1807816	GRCh37/hg19 17p12(chr17:14082945-15484858)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807743	GRCh37/hg19 17p12(chr17:14087934-15484630)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1807700	GRCh37/hg19 17p12(chr17:14087934-15479940)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1803807	GRCh37/hg19 17p12(chr17:14098247-15475654)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703548	GRCh37/hg19 17p12(chr17:14076989-15473312)	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 1684556	GRCh37/hg19 17p12(chr17:14093318-15476314)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GPathogenic
Select item 1684551	GRCh37/hg19 17p12(chr17:14111754-15442178)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1339912	GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	CDRT4, COX10 +18 more	Copy number loss	Hereditary liability to pressure palsies	Gnot provided
Select item 1330204	GRCh37/hg19 17p12(chr17:14096089-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 1328101	GRCh37/hg19 17p12(chr17:14073284-15442296)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1180510	GRCh37/hg19 17p12(chr17:14098196-15442500)x3	TEKT3, TVP23C +6 more	Copy number gain	not provided	GPathogenic
Select item 1047887	GRCh37/hg19 17p12(chr17:14100118-15455297)	CDRT15, CDRT4 +6 more	Copy number gain	Positional foot deformity +1 more	GPathogenic
Select item 983175	GRCh37/hg19 17p12(chr17:14111754-15442178)x1	TVP23C, TEKT3 +6 more	Copy number loss	See cases	GPathogenic
Select item 929831	GRCh37/hg19 17p12(chr17:14079630-15370444)x3	CDRT15, CDRT4 +5 more	Copy number gain	See cases	GPathogenic
Select item 815907	GRCh37/hg19 17p12(chr17:15185164-15436894)x3	TEKT3, CDRT4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815906	GRCh37/hg19 17p12(chr17:14195642-15545880)x3	CDRT4, PMP22 +6 more	Copy number gain	not provided	GPathogenic
Select item 666456	GRCh37/hg19 17p12(chr17:14111772-15442066)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 625729	GRCh37/hg19 17p12(chr17:14110451-15449097)	HS3ST3B1, CDRT15 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625728	GRCh37/hg19 17p12(chr17:14105874-15611546)	ZNF286A, CDRT15 +9 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625727	GRCh37/hg19 17p12(chr17:14104012-15551814)	CDRT15, CDRT4 +8 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625726	GRCh37/hg19 17p12(chr17:14104012-15422557)	CDRT15, CDRT4 +6 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625725	GRCh37/hg19 17p12(chr17:14101029-15449627)	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625724	GRCh37/hg19 17p12(chr17:14063251-15449627)	CDRT15, CDRT4 +6 more	Copy number gain	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 625678	GRCh37/hg19 17p12(chr17:14128550-15422557)	CDRT4, HS3ST3B1 +5 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 598751	Single allele	CDRT15, CDRT4 +7 more	Duplication	Charcot-Marie-Tooth disease, type IA	GPathogenic
Select item 583977	NC_000017.10:g.(?_15162411)_(15406546_?)dup	CDRT4, PMP22 +3 more	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 583564	NC_000017.10:g.(?_14139889)_(15406546_?)dup	TVP23C, TVP23C-CDRT4 +5 more	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 564406	GRCh37/hg19 17p12(chr17:15308153-15491532)x3	TVP23C, CDRT4 +1 more	Copy number gain	not provided	GLikely benign
Select item 564404	GRCh37/hg19 17p12(chr17:14087933-15484858)x1	COX10, HS3ST3B1 +6 more	Copy number loss	not provided	GPathogenic
Select item 564403	GRCh37/hg19 17p12(chr17:14085652-15512120)x3	CDRT15, CDRT4 +7 more	Copy number gain	not provided	GPathogenic
Select item 564402	GRCh37/hg19 17p12(chr17:14083054-15479940)x3	HS3ST3B1, CDRT15 +6 more	Copy number gain	not provided	GPathogenic
Select item 564401	GRCh37/hg19 17p12(chr17:14076430-15491532)x3	TEKT3, CDRT4 +6 more	Copy number gain	not provided	GPathogenic

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