"PreventionGenetics, part of Exact Sciences"[submitter] AND "TMC6"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 456014	NM_001127198.5(TMC6):c.2355-4G>A	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 456013	NM_001127198.5(TMC6):c.2354+10C>T	TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis +1 more	GBenign/Likely benign
Select item 1541510	NM_001127198.5(TMC6):c.2199-5C>T	TMC6	Single nucleotide variant (intron variant)	TMC6-related condition +1 more	GLikely benign
Select item 456009	NM_001127198.5(TMC6):c.1748G>A (p.Arg583Gln)	TMC6 (R583Q +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GLikely benign
Select item 526255	NM_001127198.5(TMC6):c.1482C>T (p.Ala494=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 456007	NM_001127198.5(TMC6):c.1471C>T (p.Arg491Cys)	TMC6 (R491C)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 456006	NM_001127198.5(TMC6):c.1276G>A (p.Gly426Arg)	TMC6 (G426R)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 788265	NM_001127198.5(TMC6):c.1237G>C (p.Ala413Pro)	TMC6 (A413P)	Single nucleotide variant (missense variant +1 more)	TMC6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 719428	NM_001127198.5(TMC6):c.969G>A (p.Leu323=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis +1 more	GBenign/Likely benign
Select item 2696201	NM_001127198.5(TMC6):c.921C>T (p.Tyr307=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	TMC6-related condition +1 more	GLikely benign
Select item 1984477	NM_001127198.5(TMC6):c.894T>C (p.Gly298=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis +1 more	GLikely benign
Select item 456018	NM_001127198.5(TMC6):c.859G>A (p.Val287Ile)	TMC6 (V287I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1166368	NM_001127198.5(TMC6):c.846G>A (p.Pro282=)	TMC6	Single nucleotide variant (synonymous variant)	TMC6-related condition +1 more	GBenign/Likely benign
Select item 734682	NM_001127198.5(TMC6):c.686C>T (p.Pro229Leu)	TMC6 (P229L)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GLikely benign
Select item 626187	NM_001127198.5(TMC6):c.633+8C>T	LOC130061786, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis +2 more	GConflicting classifications of pathogenicity
Select item 572907	NM_001127198.5(TMC6):c.440G>A (p.Ser147Asn)	TMC6 (S147N)	Single nucleotide variant (missense variant +1 more)	TMC6-related condition +1 more	GUncertain significance
Select item 721432	NM_001127198.5(TMC6):c.414G>A (p.Thr138=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	TMC6-related condition +1 more	GLikely benign
Select item 746542	NM_001127198.5(TMC6):c.288C>T (p.Ala96=)	TMC6	Single nucleotide variant (synonymous variant +1 more)	TMC6-related condition +1 more	GLikely benign
Select item 791676	NM_152468.5(TMC8):c.279G>A (p.Gly93=)	TMC8, TMC6	Single nucleotide variant (synonymous variant +1 more)	TMC8-related condition +1 more	GBenign
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 +1 more	GLikely benign

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Items: 20