ClinVar for MedGen (Select 41831) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242828	NC_000017.10:g.(?_76120014)_(76120748_?)del	TMC6	Deletion	Epidermodysplasia verruciformis	GPathogenic
Select item 3023748	NM_001127198.5(TMC6):c.141G>A (p.Gln47=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 3020432	NM_001127198.5(TMC6):c.2021+10G>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 3019669	NM_152468.5(TMC8):c.42G>A (p.Gly14=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 3019230	NM_001127198.5(TMC6):c.891+19T>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 3018087	NM_001127198.5(TMC6):c.1503C>T (p.Ser501=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 3014785	NM_152468.5(TMC8):c.360C>T (p.Asn120=)	LOC130061793, TMC6 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 3014752	NM_001127198.5(TMC6):c.1535+9C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 3014289	NM_152468.5(TMC8):c.532-12C>T	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 3013473	NM_001127198.5(TMC6):c.1162del (p.Asp388fs)	TMC6 (D388fs)	Deletion (frameshift variant +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 3008478	NM_152468.5(TMC8):c.1803C>T (p.Phe601=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 3005268	NM_152468.5(TMC8):c.697_698del (p.Leu233fs)	TMC8 (L233fs)	Microsatellite (frameshift variant)	Epidermodysplasia verruciformis	GPathogenic
Select item 3004370	NM_152468.5(TMC8):c.883C>G (p.Arg295Gly)	TMC8 (R295G)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 3003866	NM_001127198.5(TMC6):c.181+11G>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 3002954	NM_001127198.5(TMC6):c.702G>A (p.Leu234=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2995502	NM_001127198.5(TMC6):c.2021+14G>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2993294	NM_001127198.5(TMC6):c.537-10C>G	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2993274	NM_001127198.5(TMC6):c.1869C>T (p.Leu623=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2985480	NM_001127198.5(TMC6):c.1914G>A (p.Ala638=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2984392	NM_001127198.5(TMC6):c.1092C>T (p.His364=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2974436	NM_001127198.5(TMC6):c.2307C>T (p.Asn769=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2971313	NM_001127198.5(TMC6):c.2198+16G>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2920115	NM_001127198.5(TMC6):c.2199-20C>G	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2919330	NM_152468.5(TMC8):c.1664+1G>A	TMC8	Single nucleotide variant (splice donor variant)	Epidermodysplasia verruciformis	GLikely pathogenic
Select item 2919156	NM_001127198.5(TMC6):c.1715+8G>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2918038	NM_001127198.5(TMC6):c.1536-12C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2917045	NM_001127198.5(TMC6):c.2199-11C>G	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2915831	NM_001127198.5(TMC6):c.28G>A (p.Asp10Asn)	TMC6 (D10N)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2915560	NM_152468.5(TMC8):c.668+14C>T	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2913960	NM_001127198.5(TMC6):c.1812-8C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2913489	NM_152468.5(TMC8):c.1732C>T (p.Leu578=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2911416	NM_152468.5(TMC8):c.2094C>T (p.Ala698=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2908368	NM_001127198.5(TMC6):c.150G>C (p.Leu50=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2907456	NM_152468.5(TMC8):c.1727C>T (p.Pro576Leu)	TMC8 (P576L)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2907080	NM_152468.5(TMC8):c.922C>T (p.Leu308Phe)	TMC8 (L308F)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2906601	NM_001127198.5(TMC6):c.57-10C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2903419	NM_152468.5(TMC8):c.1534-9C>T	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2903141	NM_001127198.5(TMC6):c.1239C>T (p.Ala413=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2902816	NM_001127198.5(TMC6):c.798G>C (p.Leu266=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2901963	NM_152468.5(TMC8):c.1902+9C>G	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2900432	NM_001127198.5(TMC6):c.2029C>T (p.Pro677Ser)	TMC6 (P677S +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2900144	NM_001127198.5(TMC6):c.1845C>T (p.Ala615=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2896996	NM_001127198.5(TMC6):c.57-6C>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2895808	NM_152468.5(TMC8):c.1014C>T (p.Tyr338=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2890127	NM_001127198.5(TMC6):c.430+15A>G	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2888165	NM_001127198.5(TMC6):c.271+19C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2887179	NM_152468.5(TMC8):c.31C>A (p.Arg11=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2882743	NM_001127198.5(TMC6):c.1535+11G>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2882078	NM_001127198.5(TMC6):c.2202C>T (p.Ala734=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2881717	NM_001127198.5(TMC6):c.2199-14C>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2881044	NM_152468.5(TMC8):c.2052G>C (p.Pro684=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2879298	NM_152468.5(TMC8):c.1664+15A>G	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2878605	NM_001127198.5(TMC6):c.2266C>T (p.Gln756Ter)	TMC6 (Q696* +1 more)	Single nucleotide variant (nonsense +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 2878385	NM_152468.5(TMC8):c.681G>T (p.Gly227=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2872442	NM_001127198.5(TMC6):c.2354+3G>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2869342	NM_152468.5(TMC8):c.1251+16G>A	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2868129	NM_001127198.5(TMC6):c.2109G>A (p.Ala703=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2865431	NM_001127198.5(TMC6):c.54G>A (p.Gln18=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2863806	NM_001127198.5(TMC6):c.555G>A (p.Pro185=)	LOC130061786, TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2856617	NM_152468.5(TMC8):c.312A>G (p.Thr104=)	LOC130061793, TMC6 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2855893	NM_152468.5(TMC8):c.486C>T (p.Gly162=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2855296	NM_152468.5(TMC8):c.817-18C>A	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2844271	NM_001127198.5(TMC6):c.1566G>A (p.Gly522=)	TMC6	Single nucleotide variant (synonymous variant +2 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2843879	NM_152468.5(TMC8):c.195G>A (p.Arg65=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2840791	NM_152468.5(TMC8):c.1534-16T>C	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2835702	NM_152468.5(TMC8):c.1274del (p.Glu425fs)	TMC8 (E425fs)	Deletion (frameshift variant)	Epidermodysplasia verruciformis	GPathogenic
Select item 2834241	NM_152468.5(TMC8):c.285C>G (p.Leu95=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2831797	NM_152468.5(TMC8):c.1350-18A>T	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2829048	NM_152468.5(TMC8):c.891C>T (p.Leu297=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2827690	NM_152468.5(TMC8):c.864C>G (p.Thr288=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2822012	NM_152468.5(TMC8):c.2175G>A (p.Glu725=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2817038	NM_001127198.5(TMC6):c.1716-4G>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2815688	NM_001127198.5(TMC6):c.1602C>T (p.Gly534=)	TMC6	Single nucleotide variant (synonymous variant +2 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2815474	NM_001127198.5(TMC6):c.1496A>G (p.His499Arg)	TMC6 (H499R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2813478	NM_152468.5(TMC8):c.987+7G>T	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2811249	NM_001127198.5(TMC6):c.115C>T (p.Gln39Ter)	TMC6 (Q39*)	Single nucleotide variant (nonsense +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 2809066	NC_000017.11:g.78121677_78121714del	TMC6	Deletion	Epidermodysplasia verruciformis	GPathogenic
Select item 2800263	NM_001127198.5(TMC6):c.1227+15A>C	LOC130061785, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2797990	NM_001127198.5(TMC6):c.942G>A (p.Thr314=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2794980	NM_152468.5(TMC8):c.1823+16G>A	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2790596	NM_152468.5(TMC8):c.291G>A (p.Glu97=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2786420	NM_152468.5(TMC8):c.93C>T (p.Gly31=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2783810	NM_001127198.5(TMC6):c.1218C>T (p.Thr406=)	LOC130061785, TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2783756	NM_152468.5(TMC8):c.316del (p.Ile106fs)	LOC130061793, TMC6 +1 more (I106fs)	Deletion (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 2783755	NM_001127198.5(TMC6):c.536+16C>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2782429	NM_001127198.5(TMC6):c.271+16_271+21del	TMC6	Deletion (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2780821	NM_001127198.5(TMC6):c.181+8C>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2780508	NM_152468.5(TMC8):c.870C>G (p.Ala290=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2778632	NM_152468.5(TMC8):c.1481del (p.Leu494fs)	LOC130061795, TMC8 (L494fs)	Deletion (frameshift variant)	Epidermodysplasia verruciformis	GPathogenic
Select item 2778465	NM_152468.5(TMC8):c.704G>C (p.Gly235Ala)	TMC8 (G235A)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2775644	NM_152468.5(TMC8):c.411G>C (p.Trp137Cys)	LOC130061793, TMC8 (W137C)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2772447	NM_001127198.5(TMC6):c.1977C>T (p.Pro659=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2767062	NM_152468.5(TMC8):c.1534-3del	TMC8	Deletion (intron variant)	Epidermodysplasia verruciformis	GBenign
Select item 2766762	NM_152468.5(TMC8):c.1653T>C (p.Tyr551=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2763937	NM_152468.5(TMC8):c.987+20A>T	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2762214	NM_152468.5(TMC8):c.948C>T (p.Ala316=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2761580	NM_001127198.5(TMC6):c.1863G>A (p.Leu621=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2759118	NM_152468.5(TMC8):c.561_583del (p.Ala188fs)	TMC8 (A188fs)	Deletion (frameshift variant)	Epidermodysplasia verruciformis	GPathogenic
Select item 2753874	NM_001127198.5(TMC6):c.1227+19C>T	LOC130061785, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2749935	NM_001127198.5(TMC6):c.498C>T (p.Arg166=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign

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