ClinVar for MedGen (Select 347543) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3775576	NM_001943.5(DSG2):c.812_813insC (p.Val272fs)	DSG2 (V272fs)	Insertion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 3730656	NM_001943.5(DSG2):c.630G>A (p.Val210=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3728862	NM_001943.5(DSG2):c.879A>T (p.Ile293=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3728199	NM_001943.5(DSG2):c.36G>C (p.Leu12=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3724955	NM_001943.5(DSG2):c.267C>T (p.Tyr89=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3723642	NM_001943.5(DSG2):c.2325T>C (p.Tyr775=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3723118	NM_001943.5(DSG2):c.2437T>C (p.Cys813Arg)	DSG2, DSG2-AS1 (C813R)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3722234	NM_001943.5(DSG2):c.43_45+9del	DSG2, LOC130062340	Deletion (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 3719921	NM_001943.5(DSG2):c.828+10_828+12del	DSG2	Microsatellite (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3718854	NM_001943.5(DSG2):c.2072C>G (p.Ala691Gly)	DSG2, DSG2-AS1 (A691G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3718546	NM_001943.5(DSG2):c.2956G>A (p.Val986Met)	DSG2, DSG2-AS1 (V986M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3718072	NM_001943.5(DSG2):c.11G>A (p.Ser4Asn)	DSG2, LOC130062340 (S4N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3717333	NM_001943.5(DSG2):c.1992T>C (p.Pro664=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3715459	NM_001943.5(DSG2):c.523+8T>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3714787	NM_001943.5(DSG2):c.2509G>T (p.Ala837Ser)	DSG2, DSG2-AS1 (A837S)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3714326	NM_001943.5(DSG2):c.2334+2T>C	DSG2, DSG2-AS1	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3712338	NM_001943.5(DSG2):c.2163C>T (p.His721=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3712109	NM_001943.5(DSG2):c.1765A>C (p.Thr589Pro)	DSG2 (T589P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3709042	NM_001943.5(DSG2):c.600C>T (p.Ile200=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3706406	NM_001943.5(DSG2):c.338T>C (p.Val113Ala)	DSG2 (V113A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3706128	NM_001943.5(DSG2):c.1637T>C (p.Ile546Thr)	DSG2 (I546T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3705327	NM_001943.5(DSG2):c.671G>A (p.Ser224Asn)	DSG2 (S224N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3704380	NM_001943.5(DSG2):c.1678G>A (p.Glu560Lys)	DSG2 (E560K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3704067	NM_001943.5(DSG2):c.1576A>G (p.Ser526Gly)	DSG2 (S526G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3703160	NM_001943.5(DSG2):c.3307_3310del (p.Ser1103fs)	DSG2, DSG2-AS1 (S1103fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3703148	NM_001943.5(DSG2):c.2958G>A (p.Val986=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3702499	NM_001943.5(DSG2):c.1809G>A (p.Gln603=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3702403	NM_001943.5(DSG2):c.498G>A (p.Gly166=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3702235	NM_001943.5(DSG2):c.1279A>T (p.Arg427Ter)	DSG2 (R427*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3701580	NM_001943.5(DSG2):c.951AGG[1] (p.Gly319del)	DSG2 (G319del)	Microsatellite	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3700554	NM_001943.5(DSG2):c.2918C>T (p.Thr973Ile)	DSG2, DSG2-AS1 (T973I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3700164	NM_001943.5(DSG2):c.2690C>T (p.Ala897Val)	DSG2, DSG2-AS1 (A897V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3700021	NM_001943.5(DSG2):c.842T>C (p.Val281Ala)	DSG2 (V281A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3699466	NM_001943.5(DSG2):c.872C>G (p.Thr291Arg)	DSG2 (T291R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3690444	NM_001943.5(DSG2):c.2965_2967dup (p.Glu989_Arg990insGlu)	DSG2, DSG2-AS1	Duplication	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3687958	NM_001943.5(DSG2):c.2809G>A (p.Glu937Lys)	DSG2, DSG2-AS1 (E937K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3683727	NM_001943.5(DSG2):c.1391C>G (p.Thr464Arg)	DSG2 (T464R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3681082	NM_001943.5(DSG2):c.1014+17C>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3680540	NM_001943.5(DSG2):c.3206T>C (p.Met1069Thr)	DSG2, DSG2-AS1 (M1069T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3680289	NM_001943.5(DSG2):c.1844T>C (p.Ile615Thr)	DSG2 (I615T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3678983	NM_001943.5(DSG2):c.1935C>A (p.Thr645=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3677852	NM_001943.5(DSG2):c.1617C>A (p.Gly539=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3674544	NM_001943.5(DSG2):c.1275T>C (p.His425=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3673382	NM_001943.5(DSG2):c.828+10A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3672673	NM_001943.5(DSG2):c.921G>A (p.Leu307=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3671630	NM_001943.5(DSG2):c.1474A>G (p.Ile492Val)	DSG2 (I492V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3670635	NM_001943.5(DSG2):c.1235A>C (p.Asn412Thr)	DSG2 (N412T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3670421	NM_001943.5(DSG2):c.378G>A (p.Leu126=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3669478	NM_001943.5(DSG2):c.18A>T (p.Gly6=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3668822	NM_001943.5(DSG2):c.2985T>C (p.His995=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3668067	NM_001943.5(DSG2):c.46-20C>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3667498	NM_001943.5(DSG2):c.757G>A (p.Val253Ile)	DSG2 (V253I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 3665718	NM_001943.5(DSG2):c.3142G>A (p.Glu1048Lys)	DSG2, DSG2-AS1 (E1048K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3663810	NM_001943.5(DSG2):c.966C>T (p.His322=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3659967	NM_001943.5(DSG2):c.159C>A (p.Thr53=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3656428	NM_001943.5(DSG2):c.2191C>T (p.Gln731Ter)	DSG2, DSG2-AS1 (Q731*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3654788	NM_001943.5(DSG2):c.138G>A (p.Arg46=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3653198	NM_001943.5(DSG2):c.1423+19C>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3651787	NM_001943.5(DSG2):c.2634del (p.Glu879fs)	DSG2-AS1, DSG2 (E879fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3651102	NM_001943.5(DSG2):c.1652-2A>G	DSG2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 3650542	NM_001943.5(DSG2):c.2241C>A (p.Thr747=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3646571	NM_001943.5(DSG2):c.492T>C (p.Phe164=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3644812	NM_001943.5(DSG2):c.2155G>T (p.Glu719Ter)	DSG2-AS1, DSG2 (E719*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3637555	NM_001943.5(DSG2):c.2923G>C (p.Val975Leu)	DSG2, DSG2-AS1 (V975L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637554	NM_001943.5(DSG2):c.2903A>G (p.Tyr968Cys)	DSG2-AS1, DSG2 (Y968C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637553	NM_001943.5(DSG2):c.2798T>G (p.Val933Gly)	DSG2, DSG2-AS1 (V933G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637552	NM_001943.5(DSG2):c.2591A>G (p.Asn864Ser)	DSG2, DSG2-AS1 (N864S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637551	NM_001943.5(DSG2):c.2381A>G (p.Asp794Gly)	DSG2, DSG2-AS1 (D794G)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637550	NM_001943.5(DSG2):c.2282A>C (p.Gln761Pro)	DSG2, DSG2-AS1 (Q761P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637548	NM_001943.5(DSG2):c.1333T>A (p.Ser445Thr)	DSG2 (S445T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637547	NM_001943.5(DSG2):c.1196A>G (p.Glu399Gly)	DSG2 (E399G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637546	NM_001943.5(DSG2):c.952G>A (p.Gly318Arg)	DSG2 (G318R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637545	NM_001943.5(DSG2):c.543C>G (p.Ile181Met)	DSG2 (I181M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637544	NM_001943.5(DSG2):c.532G>A (p.Val178Met)	DSG2 (V178M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637543	NM_001943.5(DSG2):c.472G>T (p.Val158Leu)	DSG2 (V158L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637542	NM_001943.5(DSG2):c.179A>G (p.Glu60Gly)	DSG2 (E60G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637541	NM_001943.5(DSG2):c.119A>G (p.Lys40Arg)	DSG2 (K40R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637540	NM_001943.5(DSG2):c.97A>T (p.Asn33Tyr)	DSG2 (N33Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637351	NM_001943.5(DSG2):c.2334+8T>A	DSG2, DSG2-AS1	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3636659	NM_001943.5(DSG2):c.1948A>C (p.Thr650Pro)	DSG2 (T650P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3633007	NM_001943.5(DSG2):c.1311G>T (p.Trp437Cys)	DSG2 (W437C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3632790	NM_001943.5(DSG2):c.1971G>A (p.Trp657Ter)	DSG2 (W657*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GPathogenic/Likely pathogenic
Select item 3632159	NM_001943.5(DSG2):c.1879T>C (p.Leu627=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3630939	NM_001943.5(DSG2):c.659T>C (p.Ile220Thr)	DSG2 (I220T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3625674	NM_001943.5(DSG2):c.607C>T (p.Leu203=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3625225	NM_001943.5(DSG2):c.2516T>G (p.Val839Gly)	DSG2, DSG2-AS1 (V839G)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3624960	NM_001943.5(DSG2):c.829-19A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3624273	NM_001943.5(DSG2):c.540A>G (p.Lys180=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3620565	NM_001943.5(DSG2):c.2520C>A (p.Cys840Ter)	DSG2, DSG2-AS1 (C840*)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3615862	NM_001943.5(DSG2):c.1424-17T>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3615856	NM_001943.5(DSG2):c.2500A>C (p.Lys834Gln)	DSG2, DSG2-AS1 (K834Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3614799	NM_001943.5(DSG2):c.904G>C (p.Gly302Arg)	DSG2 (G302R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3614002	NM_001943.5(DSG2):c.524-20A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3612188	NM_001943.5(DSG2):c.2819A>G (p.Tyr940Cys)	DSG2, DSG2-AS1 (Y940C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3610885	NM_001943.5(DSG2):c.943_944delinsTT (p.Gly315Leu)	DSG2 (G315L)	Indel (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3610884	NM_001943.5(DSG2):c.1557C>A (p.Asp519Glu)	DSG2 (D519E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3609095	NM_001943.5(DSG2):c.3166A>G (p.Thr1056Ala)	DSG2, DSG2-AS1 (T1056A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3606705	NM_001943.5(DSG2):c.3297C>T (p.Thr1099=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3606473	NM_001943.5(DSG2):c.586A>T (p.Ile196Phe)	DSG2 (I196F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3605370	NM_001943.5(DSG2):c.2298A>T (p.Ala766=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign

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