Related gene-specific medical variations for Gene (Select 147138) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2887179	NM_152468.5(TMC8):c.31C>A (p.Arg11=)	TMC6, TMC8 +1 more	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 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 2778632	NM_152468.5(TMC8):c.1481del (p.Leu494fs)	LOC130061795, TMC8 (L494fs)	Deletion (frameshift variant)	Epidermodysplasia verruciformis	GPathogenic
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 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 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=)	LOC130061792, TMC6 +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=)	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 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 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 2116613	NM_152468.5(TMC8):c.384A>G (p.Ala128=)	LOC130061793, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2113443	NM_152468.5(TMC8):c.56A>T (p.Glu19Val)	LOC130061792, TMC6 +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=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2106807	NM_152468.5(TMC8):c.1521_1533+16del	LOC130061795, TMC8	Deletion (splice donor variant)	Epidermodysplasia verruciformis	GLikely pathogenic
Select item 2094845	NM_152468.5(TMC8):c.371T>C (p.Leu124Pro)	LOC130061793, TMC8 (L124P)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2081254	NM_152468.5(TMC8):c.1527C>G (p.Ile509Met)	LOC130061795, TMC8 (I509M)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
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 2032766	NM_152468.5(TMC8):c.150-18G>A	LOC130061792, TMC6 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 2021778	NM_152468.5(TMC8):c.1482G>A (p.Leu494=)	LOC130061795, TMC8	Single nucleotide variant (synonymous 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 1976661	NM_152468.5(TMC8):c.414C>G (p.Leu138=)	LOC130061793, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
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 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 1921788	NM_152468.5(TMC8):c.1500C>T (p.Ser500=)	LOC130061795, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1900907	NM_152468.5(TMC8):c.376C>T (p.Leu126Phe)	LOC130061793, TMC8 (L126F)	Single nucleotide variant (missense variant)	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 1664575	NM_152468.5(TMC8):c.1533+17G>A	LOC130061795, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
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 1630283	NM_152468.5(TMC8):c.381C>T (p.Thr127=)	LOC130061793, TMC8	Single nucleotide variant (synonymous variant)	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=)	TMC8, TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 1591955	NM_152468.5(TMC8):c.144C>T (p.Leu48=)	TMC6, TMC8 +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 1581412	NM_152468.5(TMC8):c.1533+20G>C	LOC130061795, TMC8	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 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 1539065	NM_152468.5(TMC8):c.150-12A>G	LOC130061792, TMC6 +1 more	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 1504803	NM_152468.5(TMC8):c.391G>C (p.Val131Leu)	LOC130061793, TMC8 (V131L)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	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)	TMC6, LOC130061792 +1 more (R70Q)	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 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 1385593	NM_152468.5(TMC8):c.1517C>T (p.Thr506Ile)	LOC130061795, TMC8 (T506I)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1383770	NM_152468.5(TMC8):c.1533+5C>T	LOC130061795, TMC8	Single nucleotide variant (intron variant)	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 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 1288535	NM_152468.5(TMC8):c.1903-200T>C	LOC130061797, TMC8	Single nucleotide variant (intron variant)	not provided	GBenign
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 1264152	NM_152468.5(TMC8):c.1903-203G>A	LOC130061797, TMC8	Single nucleotide variant (intron variant)	not provided	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	TMC6, TMC8 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250359	NM_152468.5(TMC8):c.299-54G>C	LOC130061793, TMC6 +1 more	Single nucleotide variant (intron variant)	not provided +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 1218103	NM_152468.5(TMC8):c.1350-58A>G	LOC130061794, TMC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217134	NM_152468.5(TMC8):c.1533+64C>T	LOC130061795, TMC8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208365	NM_152468.5(TMC8):c.298+98C>G	TMC8, LOC130061793 +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)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 1166987	NM_152468.5(TMC8):c.69G>A (p.Glu23=)	LOC130061792, TMC6 +1 more	Single nucleotide variant (synonymous variant +1 more)	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 1144544	NM_152468.5(TMC8):c.373C>T (p.Leu125=)	LOC130061793, TMC8	Single nucleotide variant (synonymous variant)	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 1142337	NM_152468.5(TMC8):c.384A>C (p.Ala128=)	TMC8, LOC130061793	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1142335	NM_152468.5(TMC8):c.393G>A (p.Val131=)	TMC8, LOC130061793	Single nucleotide variant (synonymous variant)	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 1094202	NM_152468.5(TMC8):c.1488C>T (p.Pro496=)	LOC130061795, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1054581	NM_152468.5(TMC8):c.416G>A (p.Arg139His)	LOC130061793, TMC8 (R139H)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1051258	NM_152468.5(TMC8):c.166G>C (p.Ala56Pro)	TMC8, LOC130061792 +1 more (A56P)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1045087	NM_152468.5(TMC8):c.1533+5C>G	LOC130061795, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1038697	NM_152468.5(TMC8):c.31C>G (p.Arg11Gly)	TMC6, TMC8 +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)	TMC8, LOC130061792 +1 more (R53W)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1010350	NM_152468.5(TMC8):c.194G>T (p.Arg65Leu)	LOC130061792, TMC6 +1 more (R65L)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 959650	NM_152468.5(TMC8):c.319C>T (p.Arg107Trp)	TMC6, TMC8 +1 more (R107W)	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 951950	NM_152468.5(TMC8):c.137A>G (p.Lys46Arg)	LOC130061792, TMC6 +1 more (K46R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
Select item 951879	NM_152468.5(TMC8):c.1499G>A (p.Ser500Asn)	LOC130061795, TMC8 (S500N)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance

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