ClinVar for Gene (Select 64518) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685596	GRCh37/hg19 17p12(chr17:14690080-15313716)x1	PMP22, TEKT3	Copy number loss	not provided	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 2624008	NM_031898.3(TEKT3):c.913G>A (p.Asp305Asn)	TEKT3 (D305N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590475	NM_031898.3(TEKT3):c.308A>G (p.Asn103Ser)	TEKT3 (N103S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588257	NM_031898.3(TEKT3):c.106C>T (p.Arg36Cys)	TEKT3 (R36C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2515684	NM_031898.3(TEKT3):c.758A>G (p.Glu253Gly)	TEKT3 (E253G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515318	NM_031898.3(TEKT3):c.1052T>C (p.Ile351Thr)	TEKT3 (I351T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514546	NM_031898.3(TEKT3):c.1220C>T (p.Pro407Leu)	TEKT3 (P407L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2485372	NM_031898.3(TEKT3):c.122A>G (p.Asn41Ser)	TEKT3 (N41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479370	NM_031898.3(TEKT3):c.1367A>G (p.Glu456Gly)	TEKT3 (E456G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443975	NM_031898.3(TEKT3):c.752A>C (p.Gln251Pro)	TEKT3	Single nucleotide variant (missense variant)	Spermatogenic failure 81	GPathogenic
Select item 2443974	NM_031898.3(TEKT3):c.548G>A (p.Arg183Gln)	TEKT3	Single nucleotide variant (missense variant)	Spermatogenic failure 81	GPathogenic
Select item 2443973	NM_031898.3(TEKT3):c.543_547delinsTTGA (p.Glu182_Arg183delinsTer)	TEKT3	Indel (nonsense)	Spermatogenic failure 81	GPathogenic
Select item 2410817	NM_031898.3(TEKT3):c.26C>T (p.Thr9Met)	TEKT3 (T9M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386120	NM_031898.3(TEKT3):c.991G>T (p.Val331Leu)	TEKT3 (V331L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365480	NM_031898.3(TEKT3):c.320A>G (p.Tyr107Cys)	TEKT3 (Y107C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362556	NM_031898.3(TEKT3):c.1267G>A (p.Glu423Lys)	TEKT3 (E423K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358446	NM_031898.3(TEKT3):c.788C>T (p.Thr263Met)	TEKT3 (T263M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344538	NM_031898.3(TEKT3):c.662C>T (p.Thr221Met)	TEKT3 (T221M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314247	NM_031898.3(TEKT3):c.568G>A (p.Ala190Thr)	TEKT3 (A190T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312537	NM_031898.3(TEKT3):c.929G>A (p.Arg310His)	TEKT3 (R310H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286312	NM_031898.3(TEKT3):c.1268A>C (p.Glu423Ala)	TEKT3 (E423A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273692	NM_031898.3(TEKT3):c.1405G>C (p.Asp469His)	TEKT3 (D469H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270490	NM_031898.3(TEKT3):c.790G>T (p.Ala264Ser)	TEKT3 (A264S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266507	NM_031898.3(TEKT3):c.287C>G (p.Pro96Arg)	TEKT3 (P96R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261958	NM_031898.3(TEKT3):c.96C>A (p.Ser32Arg)	TEKT3 (S32R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249365	NM_031898.3(TEKT3):c.631G>T (p.Val211Phe)	TEKT3 (V211F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241897	NM_031898.3(TEKT3):c.445C>A (p.Arg149Ser)	TEKT3 (R149S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225196	NM_031898.3(TEKT3):c.376C>T (p.Arg126Cys)	TEKT3 (R126C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222284	NM_031898.3(TEKT3):c.925C>G (p.Leu309Val)	TEKT3 (L309V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219426	NM_031898.3(TEKT3):c.200C>T (p.Pro67Leu)	TEKT3 (P67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212515	NM_031898.3(TEKT3):c.1454G>A (p.Arg485Gln)	TEKT3 (R485Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	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 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	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 1177482	GRCh37/hg19 17p12(chr17:15229779-15265326)x3	TEKT3	Copy number gain	Charcot-Marie-Tooth disease, type IA	Gnot provided
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)	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 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 564405	GRCh37/hg19 17p12(chr17:14763746-15242181)x1	PMP22, TEKT3	Copy number loss	not provided	GPathogenic
Select item 564404	GRCh37/hg19 17p12(chr17:14087933-15484858)x1	CDRT15, CDRT4 +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	LOC130060304, LOC130060305 +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 523259	GRCh37/hg19 17p12(chr17:14215739-15422582)	CDRT4, HS3ST3B1 +4 more	Copy number loss	Attention deficit hyperactivity disorder +3 more	GPathogenic
Select item 523238	GRCh37/hg19 17p12(chr17:14215739-15422582)	CDRT4, HS3ST3B1 +4 more	Copy number loss	Steppage gait +3 more	GPathogenic
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 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

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