"GeneDx"[submitter] AND "TMC6"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1279056	NM_001127198.5(TMC6):c.2355-66C>T	TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 403544	NM_001127198.5(TMC6):c.2021+11C>T	TMC6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1165515	NM_001127198.5(TMC6):c.1950C>T (p.Thr650=)	TMC6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1283213	NM_001127198.5(TMC6):c.1888-85C>T	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221441	NM_001127198.5(TMC6):c.1887+198T>C	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285976	NM_001127198.5(TMC6):c.1887+111G>A	TMC6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1230962	NM_001127198.5(TMC6):c.1887+89G>C	TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1288318	NM_001127198.5(TMC6):c.1887+77C>A	TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1277491	NM_001127198.5(TMC6):c.1812-54T>A	TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1248936	NM_001127198.5(TMC6):c.1811+77C>T	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183294	NM_001127198.5(TMC6):c.1811+25A>G	TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1167881	NM_001127198.5(TMC6):c.1716-6del	TMC6	Deletion (intron variant)	not specified +2 more	GBenign
Select item 1264456	NM_001127198.5(TMC6):c.1715+238G>A	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239272	NM_001127198.5(TMC6):c.1715+56_1715+68del	TMC6	Deletion (intron variant)	not provided	GBenign
Select item 1265891	NM_001127198.5(TMC6):c.1384-116A>G	LOC130061784, TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1227384	NM_001127198.5(TMC6):c.1384-156T>C	LOC130061784, TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237288	NM_001127198.5(TMC6):c.1383+136T>C	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277977	NM_001127198.5(TMC6):c.1383+120C>T	TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1277806	NM_001127198.5(TMC6):c.1383+67C>G	TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1283990	NM_001127198.5(TMC6):c.1228-111_1228-110del	TMC6	Deletion (intron variant)	not provided	GBenign
Select item 1261259	NM_001127198.5(TMC6):c.1228-179C>T	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235056	NM_001127198.5(TMC6):c.1227+263G>A	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205156	NM_001127198.5(TMC6):c.1227+242G>A	TMC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232918	NM_001127198.5(TMC6):c.1227+233C>G	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228707	NM_001127198.5(TMC6):c.1227+232G>A	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258941	NM_001127198.5(TMC6):c.1227+197C>T	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198749	NM_001127198.5(TMC6):c.1227+143G>A	TMC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220937	NM_001127198.5(TMC6):c.1227+131C>T	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166986	NM_001127198.5(TMC6):c.1083-4C>G	TMC6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1273917	NM_001127198.5(TMC6):c.1083-57C>G	TMC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1251199	NM_001127198.5(TMC6):c.1083-265C>T	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252776	NM_001127198.5(TMC6):c.1082+253G>T	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193560	NM_001127198.5(TMC6):c.1082+228A>G	TMC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277437	NM_001127198.5(TMC6):c.1082+140A>G	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165516	NM_001127198.5(TMC6):c.1082+5T>C	TMC6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1220077	NM_001127198.5(TMC6):c.891+72G>A	TMC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 456018	NM_001127198.5(TMC6):c.859G>A (p.Val287Ile)	TMC6 (V287I)	Single nucleotide variant (missense variant +1 more)	TMC6-related disorder +2 more	GBenign
Select item 456016	NM_001127198.5(TMC6):c.704A>G (p.Lys235Arg)	TMC6 (K235R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1165518	NM_001127198.5(TMC6):c.599C>T (p.Ser200Phe)	LOC130061786, TMC6 (S200F)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 1164814	NM_001127198.5(TMC6):c.572G>A (p.Gly191Asp)	LOC130061786, TMC6 (G191D)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 403545	NM_001127198.5(TMC6):c.457C>T (p.Leu153Phe)	TMC6 (L153F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1221208	NM_001127198.5(TMC6):c.431-214C>T	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229357	NM_001127198.5(TMC6):c.430+26A>T	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403546	NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg)	TMC6 (W125R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1313451	NM_001127198.5(TMC6):c.281G>A (p.Arg94Gln)	TMC6 (R94Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1287792	NM_001127198.5(TMC6):c.272-113A>G	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220124	NM_001127198.5(TMC6):c.272-139T>C	TMC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293921	NM_001127198.5(TMC6):c.271+138T>C	TMC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422538	NM_001127198.5(TMC6):c.57-1G>A	TMC6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1228172	NM_152468.5(TMC8):c.-309+144G>T	TMC8, TMC6	Single nucleotide variant (intron variant)	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 1263402	NM_152468.5(TMC8):c.-187C>T	TMC6, TMC8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 1228666	NM_152468.5(TMC8):c.149+39dup	LOC130061792, TMC6 +1 more	Duplication (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 1268728	NM_152468.5(TMC8):c.298+115C>G	TMC6, TMC8 +1 more	Single nucleotide variant (intron variant)	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	LOC130061793, TMC6 +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 403547	NM_152468.5(TMC8):c.1107G>A (p.Glu369=)	TMC8, TMC6	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis, susceptibility to, 2 +3 more	GBenign

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Items: 61