"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2856617	NM_152468.5(TMC8):c.312A>G (p.Thr104=)	TMC6, TMC8 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 2783756	NM_152468.5(TMC8):c.316del (p.Ile106fs)	TMC8, LOC130061793 +1 more (I106fs)	Deletion (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GPathogenic
Select item 959650	NM_152468.5(TMC8):c.319C>T (p.Arg107Trp)	LOC130061793, TMC6 +1 more (R107W)	Single nucleotide variant (5 prime UTR 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 2054703	NM_152468.5(TMC8):c.326A>T (p.Tyr109Phe)	TMC8, LOC130061793 +1 more (Y109F)	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 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 3014785	NM_152468.5(TMC8):c.360C>T (p.Asn120=)	TMC8, LOC130061793 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 761008	NM_152468.5(TMC8):c.369C>T (p.Ser123=)	LOC130061793, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 760412	NM_152468.5(TMC8):c.370C>T (p.Leu124=)	LOC130061793, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
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 1144544	NM_152468.5(TMC8):c.373C>T (p.Leu125=)	LOC130061793, 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 +1 more	GUncertain significance
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 2116613	NM_152468.5(TMC8):c.384A>G (p.Ala128=)	LOC130061793, TMC8	Single nucleotide variant (synonymous variant)	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 651707	NM_152468.5(TMC8):c.390C>G (p.Phe130Leu)	LOC130061793, TMC8 (F130L)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	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 1142335	NM_152468.5(TMC8):c.393G>A (p.Val131=)	TMC8, LOC130061793	Single nucleotide variant (synonymous variant)	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 2775644	NM_152468.5(TMC8):c.411G>C (p.Trp137Cys)	LOC130061793, TMC8 (W137C)	Single nucleotide variant (missense variant)	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 1054581	NM_152468.5(TMC8):c.416G>A (p.Arg139His)	LOC130061793, TMC8 (R139H)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance

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Items: 25