"GeneDx"[submitter] AND "TMC2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1246774	NM_080751.3(TMC2):c.554+13C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286330	NM_080751.3(TMC2):c.646-14G>C	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260478	NM_080751.3(TMC2):c.835-140T>G	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1278121	NM_080751.3(TMC2):c.1743+20A>G	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285752	NM_080751.3(TMC2):c.1744-336C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275464	NM_080751.3(TMC2):c.1940+119T>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286973	NM_080751.3(TMC2):c.1940+148G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288418	NM_080751.3(TMC2):c.1940+223T>G	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278086	NM_080751.3(TMC2):c.1941-158C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274440	NM_080751.3(TMC2):c.2180+21G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260907	NM_080751.3(TMC2):c.2180+62C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261322	NM_080751.3(TMC2):c.2306+266G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246210	NM_080751.3(TMC2):c.2307-280G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236058	NM_080751.3(TMC2):c.2307-221G>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248390	NM_080751.3(TMC2):c.2307-16T>C	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273141	NM_080751.3(TMC2):c.2385+29C>G	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279176	NM_080751.3(TMC2):c.2386-259_2386-258insCT	TMC2	Insertion (intron variant)	not provided	GBenign
Select item 1236459	NM_080751.3(TMC2):c.2386-127C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178905	NM_080751.3(TMC2):c.2386-26G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284226	NM_080751.3(TMC2):c.2406T>C (p.Ser802=)	TMC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1276935	NM_080751.3(TMC2):c.2503+71C>T	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253159	NM_080751.3(TMC2):c.2503+310G>C	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221029	NM_080751.3(TMC2):c.2503+311G>A	TMC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273721	NM_080751.3(TMC2):c.*1T>C	TMC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 27