ClinVar for Gene (Select 5376) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3255566	NM_000304.4(PMP22):c.314T>C (p.Leu105Pro)	PMP22 (L105P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type IA	GUncertain significance
Select item 3215840	NM_000304.4(PMP22):c.395A>G (p.Tyr132Cys)	PMP22 (Y132C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3047127	NM_000304.4(PMP22):c.267C>G (p.Thr89=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	PMP22-related disorder	GLikely benign
Select item 3040104	NM_000304.4(PMP22):c.320G>A (p.Gly107Asp)	PMP22 (G107D)	Single nucleotide variant (missense variant +1 more)	PMP22-related disorder	GLikely pathogenic
Select item 3017150	NM_000304.4(PMP22):c.229A>G (p.Ile77Val)	PMP22 (I77V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2967888	NM_000304.4(PMP22):c.78+7G>A	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2920863	NM_000304.4(PMP22):c.79-23del	PMP22	Deletion (intron variant)	not provided	GLikely benign
Select item 2919901	NM_000304.4(PMP22):c.179-15G>C	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
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 2908552	NM_000304.4(PMP22):c.413T>C (p.Leu138Pro)	PMP22 (L138P)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2895000	NM_000304.4(PMP22):c.153C>T (p.His51=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2884310	NM_000304.4(PMP22):c.64T>C (p.Ser22Pro)	PMP22 (S22P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2845808	NM_000304.4(PMP22):c.330G>C (p.Val110=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2842254	NM_000304.4(PMP22):c.354G>A (p.Thr118=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2839878	NM_000304.4(PMP22):c.396del (p.Ser131_Tyr132insTer)	PMP22	Deletion (nonsense +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2839368	NM_000304.4(PMP22):c.23T>A (p.Ile8Asn)	PMP22 (I8N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2830787	NM_000304.4(PMP22):c.78+2T>C	PMP22	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 2828640	NM_000304.4(PMP22):c.376C>G (p.Leu126Val)	PMP22 (L126V)	Single nucleotide variant (missense variant +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 2811689	NM_000304.4(PMP22):c.138C>A (p.Ser46=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2811688	NM_000304.4(PMP22):c.139del (p.Ser47fs)	PMP22 (S47fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2808588	NM_000304.4(PMP22):c.125G>A (p.Cys42Tyr)	PMP22 (C42Y)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2786003	NM_000304.4(PMP22):c.267C>T (p.Thr89=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2778027	NM_000304.4(PMP22):c.277G>T (p.Gly93Trp)	PMP22 (G93W)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2762771	NM_000304.4(PMP22):c.219_223dup (p.Phe75fs)	PMP22 (F75fs)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2728041	NM_000304.4(PMP22):c.212T>A (p.Leu71Gln)	PMP22 (L71Q)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	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 2717059	NM_000304.4(PMP22):c.316G>A (p.Ala106Thr)	PMP22 (A106T)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2709503	NM_000304.4(PMP22):c.160_178+78delinsGGAC	PMP22	Indel (splice donor variant)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 2704103	NM_000304.4(PMP22):c.244dup (p.Leu82fs)	PMP22 (L82fs)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2689794	NM_000304.4(PMP22):c.109G>C (p.Asp37His)	PMP22 (D37H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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	COX10, HS3ST3B1 +6 more	Copy number loss	not provided	GPathogenic
Select item 2671610	Single allele	CDRT15, CDRT4 +6 more	Deletion	not provided	GPathogenic
Select item 2662819	NM_000304.4(PMP22):c.337G>A (p.Ala113Thr)	PMP22 (A113T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647498	NM_000304.4(PMP22):c.178+5559T>A	PMP22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647497	NM_000304.4(PMP22):c.320-2133T>C	PMP22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2584815	NM_000304.4(PMP22):c.257_267del (p.Gln86fs)	PMP22 (Q86fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 1E	GLikely pathogenic
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 2504991	NM_000304.4(PMP22):c.280G>A (p.Gly94Ser)	PMP22 (G94S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500820	NC_000017.10:g.(?_15133094)_(15164078_?)dup	PMP22	Duplication	Charcot-Marie-Tooth disease, type IA	GPathogenic
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 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 2444073	NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)	PMP22 (C42R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 2422848	NC_000017.10:g.(?_15142768)_(15164064_?)dup	PMP22	Duplication	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2422847	NC_000017.10:g.(?_15162391)_(15164044_?)del	PMP22	Deletion	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2197004	NM_000304.4(PMP22):c.393C>T (p.Ser131=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2146693	NM_000304.4(PMP22):c.345C>T (p.Ala115=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2111792	NM_000304.4(PMP22):c.421G>A (p.Val141Met)	PMP22 (V141M)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2095123	NM_000304.4(PMP22):c.296C>T (p.Thr99Ile)	PMP22 (T99I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2086268	NM_000304.4(PMP22):c.78+16G>A	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2082318	NM_000304.4(PMP22):c.68C>T (p.Thr23Met)	PMP22 (T23M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 2081286	NM_000304.4(PMP22):c.278G>C (p.Gly93Ala)	PMP22 (G93A)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I +1 more	GUncertain significance
Select item 2065556	NM_000304.4(PMP22):c.179-17G>C	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2047268	NM_000304.4(PMP22):c.369G>A (p.Glu123=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2045631	NM_000304.4(PMP22):c.370T>C (p.Trp124Arg)	PMP22 (W124R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2044604	NM_000304.4(PMP22):c.36C>G (p.His12Gln)	PMP22 (H12Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, type I	GPathogenic
Select item 2041854	NM_000304.4(PMP22):c.79-14C>G	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2038648	NM_000304.4(PMP22):c.178+7C>G	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2035887	NM_000304.4(PMP22):c.79-4C>G	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2033846	NM_000304.4(PMP22):c.43GTGCTG[3] (p.Leu18_Leu19insValLeu)	PMP22	Microsatellite (inframe_insertion)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 2026700	NM_000304.4(PMP22):c.273C>T (p.Thr91=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2011903	NM_000304.4(PMP22):c.189G>A (p.Gln63=)	PMP22	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 2008328	NM_000304.4(PMP22):c.109G>A (p.Asp37Asn)	PMP22 (D37N)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 2001064	NM_000304.4(PMP22):c.78+2del	PMP22	Deletion (splice donor variant)	Charcot-Marie-Tooth disease, type I	GLikely pathogenic
Select item 1980504	NM_000304.4(PMP22):c.320-18G>A	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 1974290	NM_000304.4(PMP22):c.79-4C>A	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 1936199	NM_000304.4(PMP22):c.350A>G (p.Tyr117Cys)	PMP22 (Y117C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 1907763	NM_000304.4(PMP22):c.319+11G>A	PMP22	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease, type I	GLikely benign
Select item 1879390	GRCh37/hg19 17p12(chr17:14110127-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1879362	NM_000304.4(PMP22):c.320-2210G>A	PMP22	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1790540	NM_000304.4(PMP22):c.238C>G (p.Leu80Val)	PMP22 (L80V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1782887	NM_000304.4(PMP22):c.106A>G (p.Thr36Ala)	PMP22 (T36A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1780171	NM_000304.4(PMP22):c.178G>A (p.Glu60Lys)	PMP22 (E60K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1760695	NM_000304.4(PMP22):c.78+4A>C	PMP22	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1751590	NM_000304.4(PMP22):c.60C>A (p.Phe20Leu)	PMP22 (F20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1723524	NM_000304.4(PMP22):c.337G>C (p.Ala113Pro)	PMP22 (A113P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723293	NC_000017.10:g.(15164079_15168470)_(15168675_?)del	PMP22	Deletion	not specified	GUncertain significance
Select item 1722959	NM_000304.4(PMP22):c.26T>A (p.Ile9Asn)	PMP22 (I9N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711430	NM_000304.4(PMP22):c.10C>T (p.Leu4=)	PMP22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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