ClinVar for Gene (Select 146822) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 111

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3141717	NM_001007530.3(CDRT15):c.56G>A (p.Ser19Asn)	CDRT15 (S19N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141716	NM_001007530.3(CDRT15):c.419C>T (p.Pro140Leu)	CDRT15 (P74L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141715	NM_001007530.3(CDRT15):c.274T>C (p.Cys92Arg)	CDRT15 (C26R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141713	NM_001007530.3(CDRT15):c.19C>T (p.Pro7Ser)	CDRT15 (P7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2558830	NM_001007530.3(CDRT15):c.422A>G (p.Glu141Gly)	CDRT15 (E141G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2482856	NM_001007530.3(CDRT15):c.199G>A (p.Gly67Arg)	CDRT15 (G67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478914	NM_001007530.3(CDRT15):c.305C>T (p.Ala102Val)	CDRT15 (A102V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455416	NM_001007530.3(CDRT15):c.245T>C (p.Ile82Thr)	CDRT15 (I82T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366758	NM_001007530.3(CDRT15):c.487C>T (p.Leu163Phe)	CDRT15 (L97F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326639	NM_001007530.3(CDRT15):c.271C>G (p.Pro91Ala)	CDRT15 (P25A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296201	NM_001007530.3(CDRT15):c.338C>A (p.Pro113His)	CDRT15 (P47H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225679	NM_001007530.3(CDRT15):c.113C>T (p.Ser38Leu)	CDRT15 (S38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879390	GRCh37/hg19 17p12(chr17:14110127-15472344)x1	TVP23C, TVP23C-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	CDRT15, CDRT4 +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 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	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 1460285	NC_000017.10:g.(?_14139889)_(15142928_?)del	HS3ST3B1, PMP22 +1 more	Deletion	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 1340845	GRCh37/hg19 17p12(chr17:13738798-14156469)x3	CDRT15, COX10	Copy number gain	not provided	GUncertain significance
Select item 1339912	GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1	ADORA2B, ARHGAP44 +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 929830	GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1	ADPRM, ARHGAP44 +14 more	Copy number loss	See cases	GUncertain significance
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)	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 625728	GRCh37/hg19 17p12(chr17:14105874-15611546)	CDRT15, CDRT4 +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)	CDRT15, CDRT4 +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 583564	NC_000017.10:g.(?_14139889)_(15406546_?)dup	TVP23C, TVP23C-CDRT4 +5 more	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
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
Select item 545216	NC_000017.11:g.(?_14183541)_(15573247_?)del	CDRT15, CDRT3 +25 more	Deletion	Autism	GLikely pathogenic
Select item 545215	NC_000017.11:g.(?_14178908)_(15518547_?)del	CDRT15, CDRT3 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 446318	GRCh37/hg19 17p12(chr17:14098786-15495266)x1	CDRT15, CDRT4 +7 more	Copy number loss	See cases	GPathogenic
Select item 443980	GRCh37/hg19 17p12(chr17:14087933-15491532)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443264	GRCh37/hg19 17p12(chr17:14098660-15500645)x1	CDRT15, CDRT4 +7 more	Copy number loss	See cases	GPathogenic
Select item 443228	GRCh37/hg19 17p12(chr17:14087933-15437330)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GPathogenic
Select item 443110	GRCh37/hg19 17p12(chr17:14083054-15491533)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GPathogenic
Select item 442497	GRCh37/hg19 17p12(chr17:14087933-15490100)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GPathogenic
Select item 442492	GRCh37/hg19 17p12(chr17:14087787-15473312)x1	CDRT15, CDRT4 +6 more	Copy number loss	See cases	GPathogenic
Select item 442475	GRCh37/hg19 17p12(chr17:14098660-15501133)x3	CDRT15, CDRT4 +7 more	Copy number gain	See cases	GPathogenic
Select item 442191	GRCh37/hg19 17p12(chr17:14083054-15463054)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GPathogenic
Select item 442137	GRCh37/hg19 17p12(chr17:14095639-15274712)x1	CDRT15, COX10 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 441962	GRCh37/hg19 17p12(chr17:14083054-15491532)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441745	GRCh37/hg19 17p12(chr17:14087787-15483608)x1	CDRT15, CDRT4 +6 more	Copy number loss	See cases	GPathogenic
Select item 395405	GRCh37/hg19 17p12(chr17:14100118-15455238)x1	CDRT15, CDRT4 +6 more	Copy number loss	See cases	GPathogenic
Select item 393922	GRCh37/hg19 17p12(chr17:14100118-15492400)x3	CDRT15, CDRT4 +7 more	Copy number gain	See cases	GPathogenic
Select item 393850	GRCh37/hg19 17p12(chr17:14100118-15458649)x3	CDRT15, CDRT4 +6 more	Copy number gain	See cases	GPathogenic
Select item 253585	GRCh37/hg19 17p12(chr17:14100118-15492444)x3	TEKT3, COX10 +7 more	Copy number gain	See cases	GPathogenic
Select item 253384	GRCh37/hg19 17p12(chr17:14139857-15707850)x3	HS3ST3B1, TVP23C +9 more	Copy number gain	See cases	GPathogenic
Select item 236376	Single allele	TVP23C-CDRT4, CDRT15 +6 more	Deletion	Autism spectrum disorder	GPathogenic
Select item 221759	GRCh37/hg19 17p12(chr17:14105874-15383769)x1	CDRT4, COX10 +5 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 160871	GRCh38/hg38 17p12(chr17:14208455-15538752)x3	CDRT15, CDRT3 +21 more	Copy number gain	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 155232	GRCh38/hg38 17p12(chr17:14184470-15586786)x1	CDRT15, CDRT3 +25 more	Copy number loss	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 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 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 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 152875	GRCh38/hg38 17p12(chr17:14186983-15570276)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

<< First< Prev

Page of 2