C4722564[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 790929	NM_001127198.5(TMC6):c.2384C>T (p.Pro795Leu)	TMC6 (P735L +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis +1 more	GConflicting classifications of pathogenicity
Select item 626186	NM_001127198.5(TMC6):c.2354G>C (p.Arg785Thr)	TMC6 (R785T +1 more)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis, susceptibility to, 1 +1 more	GUncertain significance
Select item 526236	NM_001127198.5(TMC6):c.1214G>A (p.Arg405His)	LOC130061785, TMC6 (R405H)	Single nucleotide variant (non-coding transcript variant +1 more)	Epidermodysplasia verruciformis, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
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 565521	NM_001127198.5(TMC6):c.73T>C (p.Tyr25His)	TMC6 (Y25H)	Single nucleotide variant (missense variant +1 more)	Epidermodysplasia verruciformis, susceptibility to, 1 +1 more	GUncertain significance
Select item 626188	NM_152468.5(TMC8):c.149+4G>T	TMC8, LOC130061792 +1 more	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis +2 more	GUncertain significance
Select item 456021	NM_152468.5(TMC8):c.1168G>A (p.Val390Ile)	TMC8 (V390I)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 992546	NM_152468.5(TMC8):c.1325C>T (p.Ala442Val)	TMC8 (A442V)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis, susceptibility to, 2 +1 more	GUncertain significance
Select item 526232	NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln)	TMC8 (R455Q)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 626189	NM_152468.5(TMC8):c.1525A>G (p.Ile509Val)	LOC130061795, TMC8 (I509V)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis, susceptibility to, 1 +1 more	GUncertain significance
Select item 456026	NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu)	TMC8 (P661L)	Single nucleotide variant (missense variant)	TMC8-related condition +4 more	GConflicting classifications of pathogenicity
Select item 827990	NM_152468.5(TMC8):c.2120G>A (p.Gly707Glu)	TMC8 (G707E)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis, susceptibility to, 1 +1 more	GUncertain significance