ClinVar for Gene (Select 11322) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 855

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326541	NM_001127198.5(TMC6):c.545G>A (p.Ser182Asn)	TMC6, LOC130061786 (S182N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3326540	NM_001127198.5(TMC6):c.1154G>A (p.Cys385Tyr)	TMC6 (C385Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3326539	NM_001127198.5(TMC6):c.1538A>T (p.Asn513Ile)	TMC6 (N513I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3326538	NM_001127198.5(TMC6):c.151G>C (p.Glu51Gln)	TMC6 (E51Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257510	NM_001127198.5(TMC6):c.2414C>T (p.Ala805Val)	TMC6 (A745V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 3242828	NC_000017.10:g.(?_76120014)_(76120748_?)del	TMC6	Deletion	Epidermodysplasia verruciformis	GPathogenic
Select item 3178274	NM_152468.5(TMC8):c.83G>C (p.Arg28Pro)	LOC130061792, TMC6 +1 more (R28P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3178252	NM_001127198.5(TMC6):c.2089T>C (p.Trp697Arg)	TMC6 (W637R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3178251	NM_001127198.5(TMC6):c.1379T>C (p.Ile460Thr)	TMC6 (I460T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3013473	NM_001127198.5(TMC6):c.1162del (p.Asp388fs)	TMC6 (D388fs)	Deletion (frameshift variant +1 more)	Epidermodysplasia verruciformis	GPathogenic
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 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 2913960	NM_001127198.5(TMC6):c.1812-8C>T	TMC6	Single nucleotide variant (intron 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 2906601	NM_001127198.5(TMC6):c.57-10C>T	TMC6	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 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 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 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 2872442	NM_001127198.5(TMC6):c.2354+3G>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GUncertain significance
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 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 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 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 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 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 2772447	NM_001127198.5(TMC6):c.1977C>T (p.Pro659=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	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 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
Select item 2747861	NM_001127198.5(TMC6):c.1510C>T (p.Leu504=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2747247	NM_001127198.5(TMC6):c.1293G>T (p.Ala431=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2745725	NM_001127198.5(TMC6):c.1308T>C (p.Leu436=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2742166	NM_001127198.5(TMC6):c.711C>T (p.Ile237=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2741855	NM_001127198.5(TMC6):c.57-18C>G	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2740162	NM_001127198.5(TMC6):c.1671C>T (p.Phe557=)	TMC6	Single nucleotide variant (synonymous variant +2 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2730758	NM_001127198.5(TMC6):c.1902C>T (p.Ala634=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2725918	NM_001127198.5(TMC6):c.1811+13T>G	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2720036	NM_001127198.5(TMC6):c.363C>T (p.Val121=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
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 2718603	NM_001127198.5(TMC6):c.1535+11G>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2715173	NM_001127198.5(TMC6):c.272-4A>G	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2707840	NM_001127198.5(TMC6):c.1082+8C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2699061	NM_001127198.5(TMC6):c.537-8G>T	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2696261	NM_001127198.5(TMC6):c.2198+16G>C	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2696201	NM_001127198.5(TMC6):c.921C>T (p.Tyr307=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2695585	NM_001127198.5(TMC6):c.272-4A>C	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2694155	NM_001127198.5(TMC6):c.846_855dup (p.Pro286fs)	TMC6 (P286fs)	Duplication (frameshift variant +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 2694072	NM_001127198.5(TMC6):c.633+14G>T	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2621765	NM_001127198.5(TMC6):c.472G>A (p.Val158Met)	TMC6 (V158M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596838	NM_001127198.5(TMC6):c.2093T>C (p.Val698Ala)	TMC6 (V638A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551464	NM_001127198.5(TMC6):c.2356G>A (p.Val786Ile)	TMC6 (V726I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537157	NM_001127198.5(TMC6):c.1136A>G (p.His379Arg)	TMC6 (H379R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536014	NM_001127198.5(TMC6):c.1675C>T (p.Leu559Phe)	TMC6 (L559F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2477313	NM_001127198.5(TMC6):c.770C>T (p.Ala257Val)	TMC6 (A257V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427962	NM_001127198.5(TMC6):c.876G>A (p.Glu292=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2422639	NM_001127198.5(TMC6):c.1167C>T (p.Tyr389=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign

<< First< Prev

Page of 9