TMC6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 150705	GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1	AFMID, BIRC5 +82 more	Copy number loss	See cases	GLikely benign
Select item 1175659	NM_001127198.5(TMC6):c.*244G>A	TMC6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1286448	NM_001127198.5(TMC6):c.*156G>A	TMC6	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 659827	NM_001127198.5(TMC6):c.2407del (p.Gln803fs)	TMC6 (Q803fs +1 more)	Deletion (frameshift variant +1 more)	Epidermodysplasia verruciformis, susceptibility to, 1	GUncertain significance
Select item 649225	NM_001127198.5(TMC6):c.2390C>T (p.Ala797Val)	TMC6 (A797V +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1007503	NM_001127198.5(TMC6):c.2387C>T (p.Pro796Leu)	TMC6 (P736L +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 790929	NM_001127198.5(TMC6):c.2384C>T (p.Pro795Leu)	TMC6 (P735L +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GConflicting classifications of pathogenicity
Select item 659016	NM_001127198.5(TMC6):c.2383C>T (p.Pro795Ser)	TMC6 (P795S +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2065611	NM_001127198.5(TMC6):c.2380G>A (p.Ala794Thr)	TMC6 (A794T +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 849550	NM_001127198.5(TMC6):c.2380G>C (p.Ala794Pro)	TMC6 (A794P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 946600	NM_001127198.5(TMC6):c.2378C>T (p.Ala793Val)	TMC6 (A733V +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1432975	NM_001127198.5(TMC6):c.2368G>A (p.Glu790Lys)	TMC6 (E790K +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1129192	NM_001127198.5(TMC6):c.2367C>T (p.Thr789=)	TMC6	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1554200	NM_001127198.5(TMC6):c.2361G>A (p.Gly787=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1580301	NM_001127198.5(TMC6):c.2359G>A (p.Gly787Arg)	TMC6 (G727R +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
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 1447425	NM_001127198.5(TMC6):c.2355G>C (p.Arg785Ser)	TMC6 (R725S +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1039786	NM_001127198.5(TMC6):c.2355-1G>C	TMC6	Single nucleotide variant (splice acceptor variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 456014	NM_001127198.5(TMC6):c.2355-4G>A	TMC6	Single nucleotide variant (intron variant)	TMC6-related disorder +1 more	GBenign
Select item 766579	NM_001127198.5(TMC6):c.2355-7C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 793190	NM_001127198.5(TMC6):c.2355-8T>C	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1143651	NM_001127198.5(TMC6):c.2355-9T>C	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1983609	NM_001127198.5(TMC6):c.2355-20G>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1279056	NM_001127198.5(TMC6):c.2355-66C>T	TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1410328	NM_001127198.5(TMC6):c.2354+20T>C	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1569341	NM_001127198.5(TMC6):c.2354+18G>C	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1623250	NM_001127198.5(TMC6):c.2354+13G>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1980168	NM_001127198.5(TMC6):c.2354+11G>C	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1132133	NM_001127198.5(TMC6):c.2354+11G>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 456013	NM_001127198.5(TMC6):c.2354+10C>T	TMC6	Single nucleotide variant (intron variant)	TMC6-related disorder +1 more	GBenign/Likely benign
Select item 2872442	NM_001127198.5(TMC6):c.2354+3G>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 626186	NM_001127198.5(TMC6):c.2354G>C (p.Arg785Thr)	TMC6 (R785T +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis, susceptibility to, 1 +1 more	GUncertain significance
Select item 2151279	NM_001127198.5(TMC6):c.2351G>A (p.Ser784Asn)	TMC6 (S724N +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2145717	NM_001127198.5(TMC6):c.2349G>T (p.Arg783Ser)	TMC6 (R723S +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1421916	NM_001127198.5(TMC6):c.2326G>A (p.Glu776Lys)	TMC6 (E776K +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1648787	NM_001127198.5(TMC6):c.2325C>T (p.Tyr775=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 860240	NM_001127198.5(TMC6):c.2325C>G (p.Tyr775Ter)	TMC6 (Y775* +1 more)	Single nucleotide variant (nonsense)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2260834	NM_001127198.5(TMC6):c.2318C>A (p.Ser773Tyr)	TMC6 (S713Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1547839	NM_001127198.5(TMC6):c.2299T>C (p.Leu767=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 845310	NM_001127198.5(TMC6):c.2282G>T (p.Gly761Val)	TMC6 (G701V +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2139595	NM_001127198.5(TMC6):c.2280G>A (p.Glu760=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 641694	NM_001127198.5(TMC6):c.2280G>C (p.Glu760Asp)	TMC6 (E760D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1347259	NM_001127198.5(TMC6):c.2278-6T>G	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1974426	NM_001127198.5(TMC6):c.2278-8C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2154787	NM_001127198.5(TMC6):c.2277+11C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1960204	NM_001127198.5(TMC6):c.2277+9C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1488355	NM_001127198.5(TMC6):c.2275A>G (p.Asn759Asp)	TMC6 (N759D +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GUncertain significance
Select item 1020448	NM_001127198.5(TMC6):c.2269A>G (p.Ile757Val)	TMC6 (I697V +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1002725	NM_001127198.5(TMC6):c.2269A>T (p.Ile757Phe)	TMC6 (I697F +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
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 1995530	NM_001127198.5(TMC6):c.2263_2264delinsTT (p.Glu755Leu)	TMC6 (E695L +1 more)	Indel (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 655485	NM_001127198.5(TMC6):c.2263G>A (p.Glu755Lys)	TMC6 (E755K +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GUncertain significance
Select item 945456	NM_001127198.5(TMC6):c.2255T>C (p.Leu752Pro)	TMC6 (L752P +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1646463	NM_001127198.5(TMC6):c.2254C>T (p.Leu752=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 969536	NM_001127198.5(TMC6):c.2250C>G (p.Ile750Met)	TMC6 (I750M +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1905512	NM_001127198.5(TMC6):c.2247C>T (p.Val749=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 840617	NM_001127198.5(TMC6):c.2246T>C (p.Val749Ala)	TMC6 (V689A +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1036064	NM_001127198.5(TMC6):c.2244G>T (p.Lys748Asn)	TMC6 (K748N +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 856794	NM_001127198.5(TMC6):c.2240G>A (p.Arg747His)	TMC6 (R687H +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 573529	NM_001127198.5(TMC6):c.2239C>T (p.Arg747Cys)	TMC6 (R747C +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GUncertain significance
Select item 1416577	NM_001127198.5(TMC6):c.2231G>A (p.Arg744Gln)	TMC6 (R744Q +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1039331	NM_001127198.5(TMC6):c.2230C>T (p.Arg744Trp)	TMC6 (R684W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1460287	NM_001127198.5(TMC6):c.2211C>A (p.Tyr737Ter)	TMC6 (Y677* +1 more)	Single nucleotide variant (nonsense +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 1966299	NM_001127198.5(TMC6):c.2203G>C (p.Val735Leu)	TMC6 (V675L +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
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 764070	NM_001127198.5(TMC6):c.2199-4G>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1541510	NM_001127198.5(TMC6):c.2199-5C>T	TMC6	Single nucleotide variant (intron variant)	TMC6-related disorder +1 more	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 1606447	NM_001127198.5(TMC6):c.2199-11C>A	TMC6	Single nucleotide variant (intron variant)	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 1581318	NM_001127198.5(TMC6):c.2199-14C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2100172	NM_001127198.5(TMC6):c.2199-19G>A	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 1595381	NM_001127198.5(TMC6):c.2199-20C>T	TMC6	Single nucleotide variant (intron variant)	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 2696261	NM_001127198.5(TMC6):c.2198+16G>C	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1111946	NM_001127198.5(TMC6):c.2198+9C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1531356	NM_001127198.5(TMC6):c.2184G>T (p.Val728=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1022356	NM_001127198.5(TMC6):c.2182G>A (p.Val728Met)	TMC6 (V668M +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1595480	NM_001127198.5(TMC6):c.2178C>T (p.Phe726=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1127858	NM_001127198.5(TMC6):c.2172T>C (p.Phe724=)	TMC6	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2200289	NM_001127198.5(TMC6):c.2165C>G (p.Thr722Ser)	TMC6 (T662S +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1018556	NM_001127198.5(TMC6):c.2162A>C (p.Asn721Thr)	TMC6 (N661T +1 more)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1524406	NM_001127198.5(TMC6):c.2147G>T (p.Arg716Leu)	TMC6 (R716L +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1952668	NM_001127198.5(TMC6):c.2127C>T (p.Ser709=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2061617	NM_001127198.5(TMC6):c.2126C>T (p.Ser709Phe)	TMC6 (S709F +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2164915	NM_001127198.5(TMC6):c.2119A>C (p.Arg707=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2421616	NM_001127198.5(TMC6):c.2117C>T (p.Pro706Leu)	TMC6 (P646L +1 more)	Single nucleotide variant (missense variant +1 more)	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 659371	NM_001127198.5(TMC6):c.2108C>T (p.Ala703Val)	TMC6 (A703V +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1389990	NM_001127198.5(TMC6):c.2096G>A (p.Arg699His)	TMC6 (R699H +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2201191	NM_001127198.5(TMC6):c.2095C>T (p.Arg699Cys)	TMC6 (R699C +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2069597	NM_001127198.5(TMC6):c.2095C>G (p.Arg699Gly)	TMC6 (R639G +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	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 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

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