ClinVar for Gene (Select 79188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3227835	NM_024334.3(TMEM43):c.576C>G (p.Leu192=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227834	NM_024334.3(TMEM43):c.336T>C (p.Ala112=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227833	NM_024334.3(TMEM43):c.165C>G (p.Gly55=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227832	NM_024334.3(TMEM43):c.1138G>T (p.Ala380Ser)	TMEM43 (A330S +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3179487	NM_024334.3(TMEM43):c.521C>T (p.Ala174Val)	TMEM43 (A175V +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3179486	NM_024334.3(TMEM43):c.1090G>T (p.Val364Leu)	TMEM43 (V339L +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075516	NM_024334.3(TMEM43):c.1150C>A (p.Leu384Ile)	TMEM43 (L334I +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3075515	NM_024334.3(TMEM43):c.1149C>T (p.Ala383=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3075514	NM_024334.3(TMEM43):c.971A>G (p.Asn324Ser)	TMEM43 (N274S +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3075299	NM_024334.3(TMEM43):c.1076T>C (p.Leu359Pro)	TMEM43 (L309P +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3075253	NM_024334.3(TMEM43):c.863A>G (p.His288Arg)	TMEM43 (H238R +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3075113	NM_024334.3(TMEM43):c.1002G>A (p.Val334=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3075092	NM_024334.3(TMEM43):c.995C>G (p.Thr332Ser)	TMEM43 (T282S +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3075050	NM_024334.3(TMEM43):c.1067C>G (p.Ala356Gly)	TMEM43 (A306G +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3074961	NM_024334.3(TMEM43):c.1064T>C (p.Val355Ala)	TMEM43 (V305A +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3074928	NM_024334.3(TMEM43):c.3G>A (p.Met1Ile)	TMEM43 (M1I)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3074703	NM_024334.3(TMEM43):c.516C>G (p.Ala172=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3074663	NM_024334.3(TMEM43):c.140T>C (p.Phe47Ser)	TMEM43 (F47S)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3074638	NM_024334.3(TMEM43):c.702A>T (p.Pro234=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3074394	NM_024334.3(TMEM43):c.977T>A (p.Met326Lys)	TMEM43 (M276K +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3074226	NM_024334.3(TMEM43):c.904A>T (p.Arg302Trp)	TMEM43 (R252W +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3074096	NM_024334.3(TMEM43):c.443-15C>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3074043	NM_024334.3(TMEM43):c.484G>T (p.Asp162Tyr)	TMEM43 (D112Y +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3073865	NM_024334.3(TMEM43):c.578C>A (p.Ser193Ter)	TMEM43 (S143* +3 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3073561	NM_024334.3(TMEM43):c.-12C>T	TMEM43	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3073523	NM_024334.3(TMEM43):c.937G>C (p.Ala313Pro)	TMEM43 (A263P +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3073485	NM_024334.3(TMEM43):c.915C>A (p.Ser305=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3073455	NM_024334.3(TMEM43):c.621C>G (p.Ser207Arg)	TMEM43 (S157R +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3073316	NM_024334.3(TMEM43):c.-10G>C	TMEM43	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3073217	NM_024334.3(TMEM43):c.1019del (p.Phe340fs)	TMEM43 (F290fs +6 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3073007	NM_024334.3(TMEM43):c.298-14G>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3072897	NM_024334.3(TMEM43):c.1198del (p.Glu400fs)	TMEM43 (E350fs +6 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3072614	NM_024334.3(TMEM43):c.878C>T (p.Ala293Val)	TMEM43 (A243V +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3072591	NM_024334.3(TMEM43):c.507C>A (p.Asn169Lys)	TMEM43 (N119K +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3072459	NM_024334.3(TMEM43):c.236G>C (p.Ser79Thr)	TMEM43 (S29T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3072430	NM_024334.3(TMEM43):c.163-3C>G	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3072328	NM_024334.3(TMEM43):c.297+1G>T	TMEM43	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3072238	NM_024334.3(TMEM43):c.990C>A (p.Leu330=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3072117	NM_024334.3(TMEM43):c.411del (p.Gln138fs)	TMEM43 (Q133fs +2 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3072030	NM_024334.3(TMEM43):c.513-15T>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3072018	NM_024334.3(TMEM43):c.719G>C (p.Arg240Pro)	TMEM43 (R190P +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3071710	NM_024334.3(TMEM43):c.600_607del (p.Asp201fs)	TMEM43 (D151fs +3 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3071290	NM_024334.3(TMEM43):c.1052T>C (p.Phe351Ser)	TMEM43 (F301S +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3071086	NM_024334.3(TMEM43):c.1094C>G (p.Ala365Gly)	TMEM43 (A315G +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070997	NM_024334.3(TMEM43):c.290C>T (p.Thr97Ile)	TMEM43 (T47I +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070940	NM_024334.3(TMEM43):c.487C>G (p.Arg163Gly)	TMEM43 (R113G +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070829	NM_024334.3(TMEM43):c.582A>G (p.Ser194=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070817	NM_024334.3(TMEM43):c.298-8G>C	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070792	NM_024334.3(TMEM43):c.430A>C (p.Arg144=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3070706	NM_024334.3(TMEM43):c.844A>C (p.Thr282Pro)	TMEM43 (T232P +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070703	NM_024334.3(TMEM43):c.853C>A (p.Leu285Ile)	TMEM43 (L235I +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070644	NM_024334.3(TMEM43):c.706-10C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3070577	NM_024334.3(TMEM43):c.693C>T (p.Pro231=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3070474	NM_024334.3(TMEM43):c.596_597del (p.Lys199fs)	TMEM43 (K149fs +3 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070358	NM_024334.3(TMEM43):c.669C>G (p.Asp223Glu)	TMEM43 (D173E +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070332	NM_024334.3(TMEM43):c.894T>G (p.His298Gln)	TMEM43 (H248Q +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070331	NM_024334.3(TMEM43):c.905G>C (p.Arg302Thr)	TMEM43 (R252T +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070313	NM_024334.3(TMEM43):c.901C>G (p.Leu301Val)	TMEM43 (L296V +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070227	NM_024334.3(TMEM43):c.-13G>C	TMEM43	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3070089	NM_024334.3(TMEM43):c.706-9dup	TMEM43	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3069959	NM_024334.3(TMEM43):c.1192A>G (p.Lys398Glu)	TMEM43 (K348E +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3069873	NM_024334.3(TMEM43):c.623T>C (p.Leu208Pro)	TMEM43 (L158P +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3069850	NM_024334.3(TMEM43):c.639C>G (p.Asp213Glu)	TMEM43 (D163E +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3069847	NM_024334.3(TMEM43):c.8C>G (p.Ala3Gly)	TMEM43 (A3G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3069789	NM_024334.3(TMEM43):c.190T>A (p.Leu64Met)	TMEM43 (L14M +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3069486	NM_024334.3(TMEM43):c.517A>G (p.Met173Val)	TMEM43 (M123V +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3069299	NM_024334.3(TMEM43):c.1126G>T (p.Ala376Ser)	TMEM43 (A326S +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3027429	NM_024334.3(TMEM43):c.201dup (p.Leu68fs)	TMEM43 (L18fs +2 more)	Duplication (frameshift variant)	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	GLikely pathogenic
Select item 3024039	NM_024334.3(TMEM43):c.887T>C (p.Val296Ala)	TMEM43 (V295A +6 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3013747	NM_024334.3(TMEM43):c.850C>T (p.Leu284=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 3010963	NM_024334.3(TMEM43):c.725C>G (p.Ser242Cys)	TMEM43 (S243C +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2974762	NM_024334.3(TMEM43):c.21T>C (p.Ser7=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2971171	NM_024334.3(TMEM43):c.834G>C (p.Lys278Asn)	TMEM43 (K228N +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2968037	NM_024334.3(TMEM43):c.297+17A>C	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2966147	NM_024334.3(TMEM43):c.866G>A (p.Gly289Glu)	TMEM43 (G239E +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2959699	NM_024334.3(TMEM43):c.855C>T (p.Leu285=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2916339	NM_024334.3(TMEM43):c.584-18C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2913702	NM_024334.3(TMEM43):c.883-13C>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2912126	NM_024334.3(TMEM43):c.583+16C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2910698	NM_024334.3(TMEM43):c.583+5G>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2910510	NM_024334.3(TMEM43):c.1068C>G (p.Ala356=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2906112	NM_024334.3(TMEM43):c.706-3C>A	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2898886	NM_024334.3(TMEM43):c.634G>C (p.Glu212Gln)	TMEM43 (E207Q +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2892491	NM_024334.3(TMEM43):c.583+7C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2889542	NM_024334.3(TMEM43):c.135C>G (p.Leu45=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2888371	NM_001407276.1(TMEM43):c.883-2_883del	TMEM43	Microsatellite (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2884872	NM_024334.3(TMEM43):c.62C>G (p.Ser21Cys)	TMEM43 (S21C)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2884188	NM_024334.3(TMEM43):c.297+16G>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2882435	NM_024334.3(TMEM43):c.204C>G (p.Leu68=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2879666	NM_024334.3(TMEM43):c.55del (p.Thr19fs)	TMEM43 (T19fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2879665	NM_024334.3(TMEM43):c.48A>G (p.Lys16=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2877009	NM_024334.3(TMEM43):c.163-20C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2873128	NM_024334.3(TMEM43):c.513-7C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2870736	NM_024334.3(TMEM43):c.57C>G (p.Thr19=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2862211	NM_024334.3(TMEM43):c.780+13C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2857341	NM_024334.3(TMEM43):c.201G>A (p.Gly67=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2856527	NM_024334.3(TMEM43):c.162+20C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2849526	NM_024334.3(TMEM43):c.241del (p.Ala81fs)	TMEM43 (A31fs +2 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2843951	NM_024334.3(TMEM43):c.924C>T (p.Thr308=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign

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