ClinVar for Gene (Select 147138) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047314	NM_152468.5(TMC8):c.817-6G>C	TMC8	Single nucleotide variant (intron variant)	TMC8-related condition	GLikely benign
Select item 3047250	NM_152468.5(TMC8):c.*7C>A	TMC8	Single nucleotide variant (3 prime UTR variant)	TMC8-related condition	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 3014785	NM_152468.5(TMC8):c.360C>T (p.Asn120=)	TMC6, TMC8 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 2919330	NM_152468.5(TMC8):c.1664+1G>A	TMC8	Single nucleotide variant (splice donor variant)	Epidermodysplasia verruciformis	GLikely pathogenic
Select item 2915560	NM_152468.5(TMC8):c.668+14C>T	TMC8	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 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 2903419	NM_152468.5(TMC8):c.1534-9C>T	TMC8	Single nucleotide variant (intron variant)	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 2895808	NM_152468.5(TMC8):c.1014C>T (p.Tyr338=)	TMC8	Single nucleotide variant (synonymous 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 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 2878385	NM_152468.5(TMC8):c.681G>T (p.Gly227=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2869342	NM_152468.5(TMC8):c.1251+16G>A	TMC8	Single nucleotide variant (intron variant)	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)	TMC8-related condition +1 more	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 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 2813478	NM_152468.5(TMC8):c.987+7G>T	TMC8	Single nucleotide variant (intron variant)	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 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 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 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 2759118	NM_152468.5(TMC8):c.561_583del (p.Ala188fs)	TMC8 (A188fs)	Deletion (frameshift variant)	Epidermodysplasia verruciformis	GPathogenic
Select item 2748752	NM_152468.5(TMC8):c.1020C>T (p.Pro340=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2743283	NM_152468.5(TMC8):c.1810C>T (p.Leu604Phe)	TMC8 (L604F)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2743273	NM_152468.5(TMC8):c.1017G>C (p.Leu339=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2741830	NM_152468.5(TMC8):c.1823+20C>A	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2737650	NM_152468.5(TMC8):c.1128-8G>T	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2725514	NM_152468.5(TMC8):c.705del (p.Gln236fs)	TMC8 (Q236fs)	Deletion (frameshift variant)	Epidermodysplasia verruciformis	GPathogenic
Select item 2719211	NM_152468.5(TMC8):c.105C>G (p.Pro35=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2719115	NM_152468.5(TMC8):c.1903-7_1903-5del	TMC8	Microsatellite (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2718742	NM_152468.5(TMC8):c.579G>A (p.Pro193=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2698628	NM_152468.5(TMC8):c.729C>T (p.Ser243=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2697398	NM_152468.5(TMC8):c.1252-14C>A	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2688350	NM_152468.5(TMC8):c.1128-490A>G	TMC8	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688349	NM_152468.5(TMC8):c.1128-624T>C	TMC8	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2608711	NM_152468.5(TMC8):c.808G>A (p.Glu270Lys)	TMC8 (E270K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552500	NM_152468.5(TMC8):c.1933G>A (p.Asp645Asn)	TMC8 (D645N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551335	NM_152468.5(TMC8):c.1216T>C (p.Cys406Arg)	TMC8 (C406R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543646	NM_152468.5(TMC8):c.887T>C (p.Leu296Pro)	TMC8 (L296P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526194	NM_152468.5(TMC8):c.1010A>G (p.Gln337Arg)	TMC8 (Q337R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444390	NM_152468.5(TMC8):c.883_889del (p.Arg295fs)	TMC8 (R295fs)	Deletion (frameshift variant)	Epidermodysplasia verruciformis, susceptibility to, 2 +1 more	GPathogenic
Select item 2422124	NM_152468.5(TMC8):c.91G>A (p.Gly31Ser)	LOC130061792, TMC6 +1 more (G31S)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2418203	NM_152468.5(TMC8):c.187T>C (p.Trp63Arg)	LOC130061792, TMC6 +1 more (W63R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2417405	NM_152468.5(TMC8):c.1418A>G (p.Lys473Arg)	TMC8 (K473R)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2417217	NM_152468.5(TMC8):c.186C>G (p.Arg62=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2348235	NM_152468.5(TMC8):c.2056C>T (p.His686Tyr)	TMC8 (H686Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336509	NM_152468.5(TMC8):c.1316T>C (p.Val439Ala)	TMC8 (V439A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329646	NM_152468.5(TMC8):c.1913A>G (p.Glu638Gly)	TMC8 (E638G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324976	NM_152468.5(TMC8):c.1738G>A (p.Ala580Thr)	TMC8 (A580T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233493	NM_152468.5(TMC8):c.2057A>C (p.His686Pro)	TMC8 (H686P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2231802	NM_152468.5(TMC8):c.2062G>C (p.Ala688Pro)	TMC8 (A688P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202128	NM_152468.5(TMC8):c.1251+17C>T	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2200290	NM_152468.5(TMC8):c.6G>A (p.Leu2=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2199433	NM_152468.5(TMC8):c.395T>G (p.Leu132Arg)	LOC130061793, TMC8 (L132R)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2194911	NM_152468.5(TMC8):c.2078C>T (p.Pro693Leu)	TMC8 (P693L)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2194535	NM_152468.5(TMC8):c.288C>T (p.Tyr96=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2193864	NM_152468.5(TMC8):c.987+1G>A	TMC8	Single nucleotide variant (splice donor variant)	Epidermodysplasia verruciformis	GLikely pathogenic
Select item 2187055	NM_152468.5(TMC8):c.2156G>A (p.Arg719His)	TMC8 (R719H)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2185274	NM_152468.5(TMC8):c.1376G>A (p.Arg459Gln)	TMC8 (R459Q)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2182401	NM_152468.5(TMC8):c.1267G>A (p.Val423Met)	TMC8 (V423M)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2173863	NM_152468.5(TMC8):c.1108G>A (p.Val370Ile)	TMC8 (V370I)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2171327	NM_152468.5(TMC8):c.1127+18dup	TMC8	Duplication (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2168417	NM_152468.5(TMC8):c.557A>G (p.Tyr186Cys)	TMC8 (Y186C)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2167502	NM_152468.5(TMC8):c.1449G>A (p.Thr483=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2166776	NM_152468.5(TMC8):c.1196T>C (p.Ile399Thr)	TMC8 (I399T)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis +1 more	GUncertain significance
Select item 2166462	NM_152468.5(TMC8):c.1752G>A (p.Pro584=)	TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2166191	NM_152468.5(TMC8):c.448+9_448+15del	TMC8	Deletion (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2161263	NM_152468.5(TMC8):c.838C>T (p.Arg280Cys)	TMC8 (R280C)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2160786	NM_152468.5(TMC8):c.1375C>G (p.Arg459Gly)	TMC8 (R459G)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2160728	NM_152468.5(TMC8):c.931G>T (p.Val311Phe)	TMC8 (V311F)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2158844	NM_152468.5(TMC8):c.1251+20G>C	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2145265	NM_152468.5(TMC8):c.448+3G>A	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2140975	NM_152468.5(TMC8):c.1251+18G>A	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2140633	NM_152468.5(TMC8):c.669-4G>A	TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2134624	NM_152468.5(TMC8):c.118C>T (p.Pro40Ser)	LOC130061792, TMC6 +1 more (P40S)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance

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