ClinVar for MedGen (Select 347543) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376693	NM_001943.5(DSG2):c.339dup (p.Thr114fs)	DSG2 (T114fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 3242754	NC_000018.9:g.(?_29121136)_(29178638_?)dup	DSG2, TTR	Duplication	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3242753	NC_000018.9:g.(?_29110940)_(29118951_?)del	DSG2	Deletion	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3242752	NC_000018.9:g.(?_29078205)_(29102222_?)del	DSG2	Deletion	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3242751	NC_000018.9:g.(?_29078215)_(29126706_?)del	DSG2	Deletion	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3236598	NM_001943.5(DSG2):c.3016C>T (p.Gln1006Ter)	DSG2, DSG2-AS1 (Q1006*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 3234096	NM_001943.5(DSG2):c.2300_2304del (p.Leu767fs)	DSG2, DSG2-AS1 (L767fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 3072623	NM_001943.5(DSG2):c.216+2T>C	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 3021486	NM_001943.5(DSG2):c.3330T>C (p.His1110=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3019727	NM_001943.5(DSG2):c.3066C>T (p.Phe1022=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3018664	NM_001943.5(DSG2):c.3227T>C (p.Val1076Ala)	DSG2, DSG2-AS1 (V1076A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3017463	NM_001943.5(DSG2):c.2737T>C (p.Ser913Pro)	DSG2, DSG2-AS1 (S913P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3015131	NM_001943.5(DSG2):c.3151C>A (p.Leu1051Ile)	DSG2, DSG2-AS1 (L1051I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3014576	NM_001943.5(DSG2):c.1014+18A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3012637	NM_001943.5(DSG2):c.3350A>T (p.Tyr1117Phe)	DSG2, DSG2-AS1 (Y1117F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3011825	NM_001943.5(DSG2):c.76T>C (p.Leu26=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3008410	NM_001943.5(DSG2):c.603A>G (p.Val201=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3003063	NM_001943.5(DSG2):c.2799G>T (p.Val933=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
Select item 3001358	NM_001943.5(DSG2):c.524-16T>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3000954	NM_001943.5(DSG2):c.1423G>C (p.Asp475His)	DSG2 (D475H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 2999758	NM_001943.5(DSG2):c.1623A>G (p.Ala541=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2996680	NM_001943.5(DSG2):c.3077G>A (p.Ser1026Asn)	DSG2, DSG2-AS1 (S1026N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2995034	NM_001943.5(DSG2):c.558A>G (p.Ala186=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 2993392	NM_001943.5(DSG2):c.759A>G (p.Val253=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2988378	NM_001943.5(DSG2):c.678C>G (p.Thr226=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2988125	NM_001943.5(DSG2):c.196A>C (p.Lys66Gln)	DSG2 (K66Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2985313	NM_001943.5(DSG2):c.1786G>A (p.Gly596Ser)	DSG2 (G596S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2971845	NM_001943.5(DSG2):c.1368A>G (p.Glu456=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2971425	NM_001943.5(DSG2):c.1791C>A (p.Ser597Arg)	DSG2 (S597R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2971261	NM_001943.5(DSG2):c.3136G>A (p.Val1046Met)	DSG2, DSG2-AS1 (V1046M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2969868	NM_001943.5(DSG2):c.46-12T>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2969322	NM_001943.5(DSG2):c.2334+10_2334+11del	DSG2, DSG2-AS1	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2967625	NM_001943.5(DSG2):c.968T>C (p.Ile323Thr)	DSG2 (I323T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2966445	NM_001943.5(DSG2):c.2669T>G (p.Val890Gly)	DSG2, DSG2-AS1 (V890G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2959116	NM_001943.5(DSG2):c.493G>A (p.Val165Ile)	DSG2 (V165I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2918869	NM_001943.5(DSG2):c.436C>T (p.Arg146Cys)	DSG2 (R146C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2918797	NM_001943.5(DSG2):c.534G>T (p.Val178=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2916220	NM_001943.5(DSG2):c.379-6T>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2914344	NM_001943.5(DSG2):c.3160G>C (p.Ala1054Pro)	DSG2, DSG2-AS1 (A1054P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 2914071	NM_001943.5(DSG2):c.2492T>C (p.Leu831Pro)	DSG2, DSG2-AS1 (L831P)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2913696	NM_001943.5(DSG2):c.939A>G (p.Ala313=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2913240	NM_001943.5(DSG2):c.45+2T>C	LOC130062340, DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 2912461	NM_001943.5(DSG2):c.828+20_828+21del	DSG2	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2910509	NM_001943.5(DSG2):c.45+15del	DSG2, LOC130062340	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2909633	NM_001943.5(DSG2):c.1796G>T (p.Cys599Phe)	DSG2 (C599F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 2908775	NM_001943.5(DSG2):c.1013A>G (p.Lys338Arg)	DSG2 (K338R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 2908461	NM_001943.5(DSG2):c.2353G>A (p.Glu785Lys)	DSG2, DSG2-AS1 (E785K)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2908162	NM_001943.5(DSG2):c.2979G>A (p.Gln993=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2906632	NM_001943.5(DSG2):c.2075A>C (p.Lys692Thr)	DSG2, DSG2-AS1 (K692T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2906250	NM_001943.5(DSG2):c.2730A>G (p.Arg910=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2903403	NM_001943.5(DSG2):c.172C>T (p.Leu58Phe)	DSG2 (L58F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2899992	NM_001943.5(DSG2):c.13C>G (p.Pro5Ala)	DSG2, LOC130062340 (P5A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 2898651	NM_001943.5(DSG2):c.2222C>T (p.Thr741Ile)	DSG2, DSG2-AS1 (T741I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2896645	NM_001943.5(DSG2):c.983A>C (p.Gln328Pro)	DSG2 (Q328P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2893255	NM_001943.5(DSG2):c.1280+15del	DSG2	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2892642	NM_001943.5(DSG2):c.1527T>A (p.Asp509Glu)	DSG2 (D509E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2891861	NM_001943.5(DSG2):c.2334+2dup	DSG2, DSG2-AS1	Duplication (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2888849	NM_001943.5(DSG2):c.1280+9G>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2888650	NM_001943.5(DSG2):c.1630T>G (p.Trp544Gly)	DSG2 (W544G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2883272	NM_001943.5(DSG2):c.2181T>C (p.Gly727=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2883118	NM_001943.5(DSG2):c.1768G>A (p.Val590Ile)	DSG2 (V590I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 2883109	NM_001943.5(DSG2):c.691-12A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2879538	NM_001943.5(DSG2):c.1423G>T (p.Asp475Tyr)	DSG2 (D475Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2877690	NM_001943.5(DSG2):c.2965G>C (p.Glu989Gln)	DSG2, DSG2-AS1 (E989Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2873709	NM_001943.5(DSG2):c.876_877inv (p.Ile293Val)	DSG2 (I293V)	Inversion (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2873019	NM_001943.5(DSG2):c.1129G>A (p.Val377Ile)	DSG2 (V377I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2865546	NM_001943.5(DSG2):c.2908C>G (p.Pro970Ala)	DSG2, DSG2-AS1 (P970A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2862359	NM_001943.5(DSG2):c.180G>A (p.Glu60=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2858508	NM_001943.5(DSG2):c.524-18C>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2856861	NM_001943.5(DSG2):c.1543G>T (p.Val515Phe)	DSG2 (V515F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2856332	NM_001943.5(DSG2):c.3060G>T (p.Glu1020Asp)	DSG2, DSG2-AS1 (E1020D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2853752	NM_001943.5(DSG2):c.2009CAT[3] (p.Ser671_Phe672insSer)	DSG2, DSG2-AS1	Microsatellite (inframe_insertion)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2847631	NM_001943.5(DSG2):c.39T>G (p.Leu13=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2845513	NM_001943.5(DSG2):c.3018G>C (p.Gln1006His)	DSG2, DSG2-AS1 (Q1006H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2842495	NM_001943.5(DSG2):c.488T>C (p.Val163Ala)	DSG2 (V163A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2840233	NM_001943.5(DSG2):c.81+9A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2830683	NM_001943.5(DSG2):c.378+16T>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2829025	NM_001943.5(DSG2):c.524-4C>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2828671	NM_001943.5(DSG2):c.3123dup (p.Gln1042fs)	DSG2, DSG2-AS1 (Q1042fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2828585	NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)	DSG2, LOC130062340 (S4fs)	Insertion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2826490	NM_001943.5(DSG2):c.505G>T (p.Glu169Ter)	DSG2 (E169*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2826400	NM_001943.5(DSG2):c.756T>G (p.Pro252=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2825715	NM_001943.5(DSG2):c.1281-16G>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2823402	NM_001943.5(DSG2):c.1515A>C (p.Thr505=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2821461	NM_001943.5(DSG2):c.251A>G (p.Lys84Arg)	DSG2 (K84R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2820874	NM_001943.5(DSG2):c.2343C>G (p.Ala781=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2817943	NM_001943.5(DSG2):c.2124A>G (p.Gln708=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2817830	NM_001943.5(DSG2):c.217-7_217-6del	DSG2	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2815828	NM_001943.5(DSG2):c.524-13T>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2814815	NM_001943.5(DSG2):c.3013A>C (p.Thr1005Pro)	DSG2, DSG2-AS1 (T1005P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2810944	NM_001943.5(DSG2):c.217-19C>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2810200	NM_001943.5(DSG2):c.1101A>G (p.Lys367=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2807637	NM_001943.5(DSG2):c.853C>T (p.Gln285Ter)	DSG2 (Q285*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2806339	NM_001943.5(DSG2):c.2001+3C>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2802965	NM_001943.5(DSG2):c.1737T>C (p.Ser579=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2800073	NM_001943.5(DSG2):c.3222C>T (p.Thr1074=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2795962	NM_001943.5(DSG2):c.794T>A (p.Val265Asp)	DSG2 (V265D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2792395	NM_001943.5(DSG2):c.486T>C (p.Asp162=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2785544	NM_001943.5(DSG2):c.1242A>G (p.Gln414=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2785497	NM_001943.5(DSG2):c.154A>T (p.Ile52Phe)	DSG2 (I52F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance

<< First< Prev

Page of 10