"Illumina Laboratory Services, Illumina"[submitter] AND "TMEM43"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 343500	NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn)	TMEM43 (S30N)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 343503	NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr)	TMEM43 (I92T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 343506	NM_024334.3(TMEM43):c.346C>A (p.Arg116=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +1 more	GConflicting classifications of pathogenicity
Select item 46136	NM_024334.3(TMEM43):c.*8C>T	TMEM43	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 343511	NM_024334.3(TMEM43):c.*115T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 343512	NM_024334.3(TMEM43):c.*217G>A	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 343514	NM_024334.3(TMEM43):c.*270T>C	TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343515	NM_024334.3(TMEM43):c.*277C>T	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343516	NM_024334.3(TMEM43):c.*312A>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343518	NM_024334.3(TMEM43):c.*463A>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343520	NM_024334.3(TMEM43):c.*719G>T	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GBenign/Likely benign
Select item 343522	NM_024334.3(TMEM43):c.*766CAAAA[1]	TMEM43, XPC	Microsatellite (3 prime UTR variant)	Xeroderma pigmentosum +1 more	GBenign/Likely benign
Select item 343523	NM_024334.3(TMEM43):c.*779A>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343524	NM_024334.3(TMEM43):c.*806A>C	TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343525	NM_024334.3(TMEM43):c.*849T>C	TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343527	NM_024334.3(TMEM43):c.*924T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343529	NM_024334.3(TMEM43):c.1054_1058del	TMEM43	Deletion (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343530	NM_024334.3(TMEM43):c.*1080G>T	TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343532	NM_024334.3(TMEM43):c.*1160A>G	XPC, TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343533	NM_024334.3(TMEM43):c.*1161C>A	TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343534	NM_024334.3(TMEM43):c.1352_1357del	TMEM43	Deletion (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343535	NM_024334.3(TMEM43):c.*1374T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343536	NM_024334.3(TMEM43):c.*1424T>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 343538	NM_024334.3(TMEM43):c.*1535T>C	TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343539	NM_024334.3(TMEM43):c.*1584G>T	TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343540	NM_024334.3(TMEM43):c.*1642T>G	TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343541	NM_024334.3(TMEM43):c.*1677dup	TMEM43	Duplication (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343542	NM_024334.3(TMEM43):c.*1700G>T	TMEM43	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 343550	NM_004628.5(XPC):c.*684G>C	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Xeroderma pigmentosum, group C +2 more	GBenign/Likely benign
Select item 343551	NM_004628.5(XPC):c.*618A>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GBenign/Likely benign
Select item 343552	NM_004628.5(XPC):c.*611T>A	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GBenign/Likely benign
Select item 369401	NM_004628.5(XPC):c.397_400del	TMEM43, XPC	Deletion (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 343558	NM_004628.5(XPC):c.*192T>C	XPC, TMEM43	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 343559	NM_004628.5(XPC):c.*133G>A	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 343560	NM_004628.5(XPC):c.*96C>G	TMEM43, XPC	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GBenign/Likely benign
Select item 190215	NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)	TMEM43, XPC (Q939K +4 more)	Single nucleotide variant (missense variant +1 more)	Xeroderma pigmentosum, group C +4 more	GBenign/Likely benign
Select item 343564	NM_004628.5(XPC):c.2421-11T>C	XPC, TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GBenign/Likely benign

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Items: 37