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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2753874	NM_001127198.5(TMC6):c.1227+19C>T	LOC130061785, TMC6	Single nucleotide variant (intron variant)	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 1556742	NM_001127198.5(TMC6):c.1227+13G>A	LOC130061785, TMC6	Single nucleotide variant (intron variant)	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 2096749	NM_001127198.5(TMC6):c.1227+9C>T	LOC130061785, TMC6	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 568657	NM_001127198.5(TMC6):c.1219C>T (p.Arg407Trp)	LOC130061785, TMC6 (R407W)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis	GUncertain significance
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 526236	NM_001127198.5(TMC6):c.1214G>A (p.Arg405His)	LOC130061785, TMC6 (R405H)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GConflicting classifications of pathogenicity
Select item 660372	NM_001127198.5(TMC6):c.1213C>T (p.Arg405Cys)	LOC130061785, TMC6 (R405C)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GUncertain significance
Select item 456004	NM_001127198.5(TMC6):c.1200G>A (p.Gln400=)	LOC130061785, TMC6	Single nucleotide variant (synonymous variant +1 more)	Epidermodysplasia verruciformis	GLikely benign
Select item 847923	NM_001127198.5(TMC6):c.1193G>A (p.Arg398His)	LOC130061785, TMC6 (R398H)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis +1 more	GUncertain significance