ClinVar for MedGen (Select 351237) - 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 3253651	NM_024422.6(DSC2):c.354+3A>G	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 3242756	NC_000018.9:g.(?_28647981)_(29178638_?)del	TTR, DSC1 +5 more	Deletion	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 3023550	NM_024422.6(DSC2):c.1879G>A (p.Ala627Thr)	DSC2 (A484T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 3023153	NM_024422.6(DSC2):c.1263+19A>G	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 3023078	NM_024422.6(DSC2):c.1520+20A>T	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 3017114	NM_024422.6(DSC2):c.1427A>C (p.Gln476Pro)	DSC2 (Q476P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 3015791	NM_024422.6(DSC2):c.2609G>A (p.Gly870Asp)	DSC2 (G870D +1 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 3014119	NM_024422.6(DSC2):c.2251-19C>T	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 3013422	NM_024422.6(DSC2):c.2045A>T (p.Asp682Val)	DSC2 (D682V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 3011398	NM_024422.6(DSC2):c.62C>T (p.Thr21Ile)	DSC2, DSCAS (T21I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 3009149	NM_024422.6(DSC2):c.1892C>A (p.Thr631Lys)	DSC2 (T631K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 3008932	NM_024422.6(DSC2):c.942+21A>T	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 3003314	NM_024422.6(DSC2):c.1733C>T (p.Pro578Leu)	DSC2 (P435L +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2996551	NM_024422.6(DSC2):c.938G>A (p.Arg313Lys)	DSC2 (R170K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2990202	NM_024422.6(DSC2):c.1324C>G (p.Pro442Ala)	DSC2 (P442A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2989753	NM_024422.6(DSC2):c.2049A>C (p.Pro683=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2988946	NM_024422.6(DSC2):c.943-3C>T	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2986694	NM_024422.6(DSC2):c.2250+14C>T	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2984605	NM_024422.6(DSC2):c.205C>A (p.Pro69Thr)	DSC2 (P69T)	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2982386	NM_024422.6(DSC2):c.133del (p.Ala45fs)	DSC2 (A45fs)	Deletion (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2982187	NM_024422.6(DSC2):c.2125+8T>C	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2981468	NM_024422.6(DSC2):c.973G>A (p.Val325Ile)	DSC2 (V182I +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2970587	NM_024422.6(DSC2):c.2074C>A (p.Leu692Ile)	DSC2 (L549I +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2958118	NM_024422.6(DSC2):c.155-17G>A	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2957807	NM_024422.6(DSC2):c.631-10C>T	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2956765	NM_024422.6(DSC2):c.1505G>T (p.Ser502Ile)	DSC2 (S359I +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2917390	NM_024422.6(DSC2):c.2096C>A (p.Ala699Glu)	DSC2 (A699E +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2913247	NM_024422.6(DSC2):c.807C>T (p.Asp269=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2906384	NM_024422.6(DSC2):c.2T>G (p.Met1Arg)	DSC2, DSCAS (M1R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2905991	NM_024422.6(DSC2):c.2304T>C (p.Val768=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2905065	NM_024422.6(DSC2):c.1358T>C (p.Met453Thr)	DSC2 (M310T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2904751	NM_024422.6(DSC2):c.942+8A>C	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2900947	NM_024422.6(DSC2):c.2509-19G>A	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2900185	NM_024422.6(DSC2):c.16C>T (p.Pro6Ser)	DSC2, DSCAS (P6S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2899364	NM_024422.6(DSC2):c.154G>A (p.Val52Ile)	DSC2 (V52I)	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2895479	NM_024422.6(DSC2):c.288A>T (p.Ile96=)	DSC2	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2894548	NM_024422.6(DSC2):c.1345C>G (p.Pro449Ala)	DSC2 (P449A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2892261	NM_024422.6(DSC2):c.1326A>G (p.Pro442=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2890594	NM_024422.6(DSC2):c.1095A>T (p.Glu365Asp)	DSC2 (E365D +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GUncertain significance
Select item 2884488	NM_024422.6(DSC2):c.2406C>T (p.His802=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2883777	NM_024422.6(DSC2):c.2408A>C (p.His803Pro)	DSC2 (H803P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2883188	NM_024422.6(DSC2):c.648A>C (p.Thr216=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2882384	NM_024422.6(DSC2):c.114T>C (p.His38=)	DSC2	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2882363	NM_024422.6(DSC2):c.354+12T>A	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2882352	NM_024422.6(DSC2):c.2514G>A (p.Val838=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2881326	NM_024422.6(DSC2):c.1556C>G (p.Thr519Ser)	DSC2 (T376S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2880847	NM_024422.6(DSC2):c.686del (p.Leu229fs)	DSC2 (L229fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 2880795	NM_024422.6(DSC2):c.171C>T (p.Cys57=)	DSC2	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2879922	NM_024422.6(DSC2):c.1734T>G (p.Pro578=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2875091	NM_024422.6(DSC2):c.1956G>T (p.Val652=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2874050	NM_024422.6(DSC2):c.1280A>G (p.Glu427Gly)	DSC2 (E427G +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2872938	NM_024422.6(DSC2):c.2124T>C (p.Phe708=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2869632	NM_024422.6(DSC2):c.2108G>A (p.Gly703Asp)	DSC2 (G703D +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2868617	NM_024422.6(DSC2):c.1575A>T (p.Gly525=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2866650	NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)	DSC2 (C626* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2864902	NM_024422.6(DSC2):c.1256T>C (p.Val419Ala)	DSC2 (V276A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2864149	NM_024422.6(DSC2):c.1025T>A (p.Ile342Asn)	DSC2 (I342N +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2863836	NM_024422.6(DSC2):c.401A>G (p.Lys134Arg)	DSC2 (K134R)	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2861747	NM_024422.6(DSC2):c.847T>C (p.Ser283Pro)	DSC2 (S283P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2860258	NM_024422.6(DSC2):c.1316A>C (p.Asn439Thr)	DSC2 (N296T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2859694	NM_024422.6(DSC2):c.1521-14A>G	DSC2	Single nucleotide variant (intron variant)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GLikely benign
Select item 2859276	NM_024422.6(DSC2):c.2509-4G>A	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2856322	NM_024422.6(DSC2):c.2589A>T (p.Gly863=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2851909	NM_024422.6(DSC2):c.2061T>C (p.Gly687=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2850825	NM_024422.6(DSC2):c.1738A>G (p.Lys580Glu)	DSC2 (K580E +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GUncertain significance
Select item 2850546	NM_024422.6(DSC2):c.549G>A (p.Arg183=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2850089	NM_024422.6(DSC2):c.128T>C (p.Leu43Pro)	DSC2 (L43P)	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2845564	NM_024422.6(DSC2):c.2106G>A (p.Leu702=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2842814	NM_024422.6(DSC2):c.610G>A (p.Glu204Lys)	DSC2 (E61K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2842392	NM_024422.6(DSC2):c.393G>A (p.Arg131=)	DSC2	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2841821	NM_024422.6(DSC2):c.1263+12T>C	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2835314	NM_024422.6(DSC2):c.355-9T>A	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2835126	NM_024422.6(DSC2):c.2136del (p.Phe712fs)	DSC2 (F712fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2832951	NM_024422.6(DSC2):c.775+3_775+6del	DSC2	Deletion (splice donor variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2825920	NM_024422.6(DSC2):c.1289A>G (p.Gln430Arg)	DSC2 (Q287R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2824457	NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)	DSC2 (Q592* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2818046	NM_024422.6(DSC2):c.453T>C (p.Pro151=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2811310	NM_024422.6(DSC2):c.182C>T (p.Ala61Val)	DSC2 (A61V)	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2810895	NM_024422.6(DSC2):c.2097A>G (p.Ala699=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2807620	NM_024422.6(DSC2):c.1313T>C (p.Val438Ala)	DSC2 (V438A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2804259	NM_024422.6(DSC2):c.1615A>G (p.Thr539Ala)	DSC2 (T396A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2799173	NM_024422.6(DSC2):c.1145A>T (p.Asp382Val)	DSC2 (D239V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2795736	NM_024422.6(DSC2):c.46C>G (p.Arg16Gly)	DSC2, DSCAS (R16G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2783092	NM_024422.6(DSC2):c.826A>G (p.Met276Val)	DSC2 (M276V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2782533	NM_024422.6(DSC2):c.1664-10A>G	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2775182	NM_024422.6(DSC2):c.1521-11A>G	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 2765938	NM_024422.6(DSC2):c.154+15A>C	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2758476	NM_024422.6(DSC2):c.1664-17dup	DSC2	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GBenign
Select item 2758409	NM_024422.6(DSC2):c.1664-19T>C	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2755928	NM_024422.6(DSC2):c.1263+14A>T	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2750148	NM_024422.6(DSC2):c.2347A>G (p.Thr783Ala)	DSC2 (T640A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2747366	NM_024422.6(DSC2):c.530G>C (p.Gly177Ala)	DSC2 (G34A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2746951	NM_024422.6(DSC2):c.1477T>C (p.Tyr493His)	DSC2 (Y350H +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 2745286	NM_024422.6(DSC2):c.1936T>A (p.Tyr646Asn)	DSC2 (Y503N +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2741862	NM_024422.6(DSC2):c.1264-19A>G	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2739623	NM_024422.6(DSC2):c.2484T>C (p.Ser828=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2739566	NM_024422.6(DSC2):c.2499T>A (p.Arg833=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2739300	NM_024422.6(DSC2):c.1022G>T (p.Cys341Phe)	DSC2 (C198F +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2736718	NM_024422.6(DSC2):c.229G>A (p.Gly77Ser)	DSC2 (G77S)	Single nucleotide variant (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2728430	NM_024422.6(DSC2):c.942+23C>A	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GBenign

<< First< Prev

Page of 10