"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TMEM43"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 519307	NM_024334.3(TMEM43):c.1A>G (p.Met1Val)	TMEM43 (M1V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 928295	NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)	TMEM43 (R11G)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 46153	NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)	TMEM43 (R28W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 466424	NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)	TMEM43 (R28Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 863138	NM_024334.3(TMEM43):c.90C>T (p.Ser30=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +3 more	GConflicting classifications of pathogenicity
Select item 263617	NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)	TMEM43 (E31K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GConflicting classifications of pathogenicity
Select item 191780	NM_024334.3(TMEM43):c.121A>G (p.Met41Val)	TMEM43 (M41V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +5 more	GConflicting classifications of pathogenicity
Select item 36871	NM_024334.3(TMEM43):c.163-14C>T	TMEM43	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign
Select item 927251	NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)	TMEM43 (A61G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1052946	NM_024334.3(TMEM43):c.200G>T (p.Gly67Val)	TMEM43 (G67V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 46141	NM_024334.3(TMEM43):c.222C>T (p.Pro74=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 202126	NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)	TMEM43 (P82A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +5 more	GUncertain significance
Select item 918914	NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)	TMEM43 (G86E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GUncertain significance
Select item 534765	NM_024334.3(TMEM43):c.265G>A (p.Val89Met)	TMEM43 (V89M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 845707	NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)	TMEM43 (R96Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GConflicting classifications of pathogenicity
Select item 924202	NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp)	TMEM43 (R117W)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 228013	NM_024334.3(TMEM43):c.402C>T (p.Thr134=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +5 more	GBenign/Likely benign
Select item 466418	NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)	TMEM43 (E135K)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 429495	NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)	TMEM43 (K141del)	Microsatellite (inframe_deletion)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 202133	NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)	TMEM43 (E142Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 179489	NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)	TMEM43 (T143M)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 516731	NM_024334.3(TMEM43):c.442+12G>C	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5 +3 more	GBenign/Likely benign
Select item 809429	NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)	TMEM43 (E150*)	Duplication (nonsense)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GUncertain significance
Select item 927252	NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)	TMEM43 (S153L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 643003	NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)	TMEM43 (R163*)	Single nucleotide variant (nonsense)	Auditory neuropathy, autosomal dominant 3 +5 more	GUncertain significance
Select item 953733	NM_024334.3(TMEM43):c.515C>T (p.Ala172Val)	TMEM43 (A172V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +3 more	GUncertain significance
Select item 46151	NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)	TMEM43 (S209A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GUncertain significance
Select item 180542	NM_024334.3(TMEM43):c.644A>C (p.His215Pro)	TMEM43 (H215P)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 642592	NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)	TMEM43 (G222R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GConflicting classifications of pathogenicity
Select item 809431	NM_024334.3(TMEM43):c.679C>G (p.His227Asp)	TMEM43 (H227D)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 177840	NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)	TMEM43 (Y233C)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 926060	NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)	TMEM43 (P234S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +6 more	GUncertain significance
Select item 927337	NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)	TMEM43 (E235A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +4 more	GUncertain significance
Select item 46152	NM_024334.3(TMEM43):c.705+7G>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5 +6 more	GConflicting classifications of pathogenicity
Select item 202119	NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)	TMEM43 (R240C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +6 more	GConflicting classifications of pathogenicity
Select item 926854	NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys)	TMEM43 (Y245C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +3 more	GUncertain significance
Select item 923336	NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)	TMEM43 (L248M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1678071	NM_024334.3(TMEM43):c.749dup (p.Asp251fs)	TMEM43 (D251fs)	Duplication (frameshift variant)	not provided +5 more	GUncertain significance
Select item 1394218	NM_024334.3(TMEM43):c.760_780+2dup	TMEM43	Duplication (splice donor variant)	Arrhythmogenic right ventricular dysplasia 5 +2 more	GUncertain significance
Select item 343507	NM_024334.3(TMEM43):c.777C>T (p.His259=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 180544	NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)	TMEM43 (R266W)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 36872	NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)	TMEM43 (R266Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 378734	NM_024334.3(TMEM43):c.798G>A (p.Arg266=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +5 more	GBenign/Likely benign
Select item 180545	NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)	TMEM43 (G289R)	Single nucleotide variant (missense variant)	Auditory neuropathy, autosomal dominant 3 +4 more	GUncertain significance
Select item 1395869	NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)	TMEM43 (F297I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 202109	NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)	TMEM43 (R299T)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 36873	NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)	TMEM43 (R312W)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 653012	NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)	TMEM43 (A314P)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 46155	NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)	TMEM43 (W316S)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 46137	NM_024334.3(TMEM43):c.1000+5G>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5 +3 more	GUncertain significance
Select item 942943	NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser)	TMEM43 (F353S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 403555	NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)	TMEM43 (R372*)	Single nucleotide variant (nonsense)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1063592	NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs)	TMEM43 (R391fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5 +2 more	GUncertain significance
Select item 650308	NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)	TMEM43 (R393W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +5 more	GUncertain significance

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Items: 54