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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2778632	NM_152468.5(TMC8):c.1481del (p.Leu494fs)	LOC130061795, TMC8 (L494fs)	Deletion (frameshift variant)	Epidermodysplasia verruciformis	GPathogenic
Select item 2021778	NM_152468.5(TMC8):c.1482G>A (p.Leu494=)	LOC130061795, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1094202	NM_152468.5(TMC8):c.1488C>T (p.Pro496=)	LOC130061795, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 951879	NM_152468.5(TMC8):c.1499G>A (p.Ser500Asn)	LOC130061795, TMC8 (S500N)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1921788	NM_152468.5(TMC8):c.1500C>T (p.Ser500=)	LOC130061795, TMC8	Single nucleotide variant (synonymous variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 456022	NM_152468.5(TMC8):c.1501G>A (p.Val501Ile)	LOC130061795, TMC8 (V501I)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis +1 more	GBenign
Select item 526241	NM_152468.5(TMC8):c.1513C>T (p.Leu505Phe)	LOC130061795, TMC8 (L505F)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis +1 more	GUncertain significance
Select item 1385593	NM_152468.5(TMC8):c.1517C>T (p.Thr506Ile)	LOC130061795, TMC8 (T506I)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 2106807	NM_152468.5(TMC8):c.1521_1533+16del	LOC130061795, TMC8	Deletion (splice donor variant)	Epidermodysplasia verruciformis	GLikely pathogenic
Select item 2081254	NM_152468.5(TMC8):c.1527C>G (p.Ile509Met)	LOC130061795, TMC8 (I509M)	Single nucleotide variant (missense variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 935669	NM_152468.5(TMC8):c.1533+3G>A	LOC130061795, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1383770	NM_152468.5(TMC8):c.1533+5C>T	LOC130061795, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 1045087	NM_152468.5(TMC8):c.1533+5C>G	LOC130061795, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GUncertain significance
Select item 798389	NM_152468.5(TMC8):c.1533+8C>G	LOC130061795, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1664575	NM_152468.5(TMC8):c.1533+17G>A	LOC130061795, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign
Select item 1581412	NM_152468.5(TMC8):c.1533+20G>C	LOC130061795, TMC8	Single nucleotide variant (intron variant)	Epidermodysplasia verruciformis	GLikely benign