Related gene-specific medical variations for Gene (Select 11322) - ClinVar - NCBI

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	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 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 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=)	LOC130061793, TMC6 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 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 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 2800263	NM_001127198.5(TMC6):c.1227+15A>C	LOC130061785, TMC6	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 2753874	NM_001127198.5(TMC6):c.1227+19C>T	LOC130061785, TMC6	Single nucleotide variant (intron variant)	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 2699061	NM_001127198.5(TMC6):c.537-8G>T	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2694072	NM_001127198.5(TMC6):c.633+14G>T	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
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 2417217	NM_152468.5(TMC8):c.186C>G (p.Arg62=)	TMC6, TMC8 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2200290	NM_152468.5(TMC8):c.6G>A (p.Leu2=)	TMC8, LOC130061792 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
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 2188064	NM_001127198.5(TMC6):c.579G>A (p.Pro193=)	LOC130061786, TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2152489	NM_001127198.5(TMC6):c.1227+12C>T	LOC130061785, TMC6	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
Select item 2113443	NM_152468.5(TMC8):c.56A>T (p.Glu19Val)	TMC8, LOC130061792 +1 more (E19V)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2110018	NM_152468.5(TMC8):c.298+16C>T	TMC6, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2109312	NM_152468.5(TMC8):c.84G>A (p.Arg28=)	TMC6, TMC8 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2096749	NM_001127198.5(TMC6):c.1227+9C>T	LOC130061785, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2084618	NM_001127198.5(TMC6):c.588C>A (p.Gly196=)	LOC130061786, TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2054703	NM_152468.5(TMC8):c.326A>T (p.Tyr109Phe)	LOC130061793, TMC6 +1 more (Y109F)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2050366	NM_001127198.5(TMC6):c.597C>T (p.Cys199=)	LOC130061786, TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2032766	NM_152468.5(TMC8):c.150-18G>A	LOC130061792, TMC6 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2020627	NM_001127198.5(TMC6):c.634-15T>C	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1982792	NM_152468.5(TMC8):c.-20_7del (p.Met1_Leu3del)	LOC130061792, TMC6 +1 more	Deletion (inframe_deletion +2 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1968918	NM_152468.5(TMC8):c.47_48insCTG (p.Pro16_Glu17insTrp)	LOC130061792, TMC6 +1 more	Insertion (inframe_insertion +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1965840	NM_152468.5(TMC8):c.34G>A (p.Ala12Thr)	LOC130061792, TMC6 +1 more (A12T)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1959972	NM_001127198.5(TMC6):c.537-16C>G	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1951486	NM_152468.5(TMC8):c.341G>A (p.Arg114His)	LOC130061793, TMC6 +1 more (R114H)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1714716	NM_152468.5(TMC8):c.277G>C (p.Gly93Arg)	TMC6, TMC8 (G93R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1663792	NM_152468.5(TMC8):c.298+13C>A	TMC6, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1660767	NM_152468.5(TMC8):c.298+8C>A	TMC6, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1660531	NM_152468.5(TMC8):c.60G>A (p.Glu20=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1649030	NM_152468.5(TMC8):c.165C>T (p.Pro55=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1637059	NM_001127198.5(TMC6):c.627C>T (p.Cys209=)	LOC130061786, TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1626402	NM_152468.5(TMC8):c.150-20_150-19del	LOC130061792, TMC6 +1 more	Deletion (intron variant)	Epidermodysplasia verruciformis	GBenign
Select item 1623880	NM_152468.5(TMC8):c.264T>C (p.Leu88=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1598797	NM_001127198.5(TMC6):c.1384-20C>T	LOC130061783, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GBenign
Select item 1591955	NM_152468.5(TMC8):c.144C>T (p.Leu48=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1586780	NM_152468.5(TMC8):c.149+18G>T	LOC130061792, TMC6 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1568117	NM_152468.5(TMC8):c.102G>A (p.Thr34=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1559698	NM_001127198.5(TMC6):c.546C>T (p.Ser182=)	LOC130061786, TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1558220	NM_152468.5(TMC8):c.299-14C>T	LOC130061793, TMC6 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1556742	NM_001127198.5(TMC6):c.1227+13G>A	LOC130061785, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1539065	NM_152468.5(TMC8):c.150-12A>G	LOC130061792, TMC6 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1536816	NM_001127198.5(TMC6):c.537-12C>G	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1523702	NM_152468.5(TMC8):c.248G>C (p.Arg83Pro)	TMC6, TMC8 (R83P)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GUncertain significance
Select item 1521078	NM_152468.5(TMC8):c.215C>A (p.Thr72Lys)	LOC130061792, TMC6 +1 more (T72K)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1515904	NM_152468.5(TMC8):c.127A>G (p.Met43Val)	LOC130061792, TMC6 +1 more (M43V)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GUncertain significance
Select item 1490656	NM_152468.5(TMC8):c.259G>C (p.Gly87Arg)	TMC6, TMC8 (G87R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1475991	NM_152468.5(TMC8):c.209G>A (p.Arg70Gln)	TMC8, LOC130061792 +1 more (R70Q)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1475963	NM_001127198.5(TMC6):c.628G>A (p.Val210Met)	LOC130061786, TMC6 (V210M)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1474040	NM_152468.5(TMC8):c.70G>A (p.Ala24Thr)	LOC130061792, TMC6 +1 more (A24T)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1455103	NM_152468.5(TMC8):c.94dup (p.Ser32fs)	LOC130061792, TMC6 +1 more (S32fs)	Duplication (frameshift variant +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 1447000	NM_001127198.5(TMC6):c.551C>A (p.Thr184Asn)	LOC130061786, TMC6 (T184N)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1438173	NM_152468.5(TMC8):c.95C>T (p.Ser32Phe)	LOC130061792, TMC6 +1 more (S32F)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1429410	NM_152468.5(TMC8):c.307G>C (p.Gly103Arg)	LOC130061793, TMC6 +1 more (G103R)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1421227	NM_152468.5(TMC8):c.277G>A (p.Gly93Arg)	TMC6, TMC8 (G93R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1414580	NM_152468.5(TMC8):c.320G>A (p.Arg107Gln)	LOC130061793, TMC6 +1 more (R107Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1373172	NM_152468.5(TMC8):c.340C>A (p.Arg114Ser)	LOC130061793, TMC6 +1 more (R114S)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1354570	NM_001127198.5(TMC6):c.607G>C (p.Gly203Arg)	LOC130061786, TMC6 (G203R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1352753	NM_152468.5(TMC8):c.271T>C (p.Trp91Arg)	TMC6, TMC8 (W91R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1347935	NM_001127198.5(TMC6):c.548G>T (p.Arg183Met)	LOC130061786, TMC6 (R183M)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1268728	NM_152468.5(TMC8):c.298+115C>G	LOC130061793, TMC6 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265891	NM_001127198.5(TMC6):c.1384-116A>G	LOC130061784, TMC6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1263402	NM_152468.5(TMC8):c.-187C>T	TMC6, TMC8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1261052	NM_152468.5(TMC8):c.-239G>C	TMC6, TMC8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1250593	NM_152468.5(TMC8):c.299-80G>A	LOC130061793, TMC6 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250359	NM_152468.5(TMC8):c.299-54G>C	TMC8, LOC130061793 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1228666	NM_152468.5(TMC8):c.149+39dup	LOC130061792, TMC6 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1228172	NM_152468.5(TMC8):c.-309+144G>T	TMC6, TMC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227384	NM_001127198.5(TMC6):c.1384-156T>C	LOC130061784, TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208365	NM_152468.5(TMC8):c.298+98C>G	LOC130061793, TMC6 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169102	NM_152468.5(TMC8):c.77T>C (p.Met26Thr)	LOC130061792, TMC6 +1 more (M26T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1168550	NM_001127198.5(TMC6):c.633+16C>T	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 1166987	NM_152468.5(TMC8):c.69G>A (p.Glu23=)	TMC6, TMC8 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1165518	NM_001127198.5(TMC6):c.599C>T (p.Ser200Phe)	LOC130061786, TMC6 (S200F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1164814	NM_001127198.5(TMC6):c.572G>A (p.Gly191Asp)	LOC130061786, TMC6 (G191D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1148215	NM_152468.5(TMC8):c.168G>A (p.Ala56=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1142934	NM_152468.5(TMC8):c.54G>A (p.Pro18=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1132951	NM_152468.5(TMC8):c.150-10C>G	LOC130061792, TMC6 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1116813	NM_152468.5(TMC8):c.141C>T (p.Arg47=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1113281	NM_152468.5(TMC8):c.255C>T (p.Ala85=)	TMC6, TMC8	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1091453	NM_001127198.5(TMC6):c.585C>T (p.Ser195=)	LOC130061786, TMC6	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1051258	NM_152468.5(TMC8):c.166G>C (p.Ala56Pro)	LOC130061792, TMC6 +1 more (A56P)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1038697	NM_152468.5(TMC8):c.31C>G (p.Arg11Gly)	LOC130061792, TMC6 +1 more (R11G)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1022027	NM_152468.5(TMC8):c.157C>T (p.Arg53Trp)	TMC6, TMC8 +1 more (R53W)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance

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