"Color Diagnostics, LLC DBA Color Health"[submitter] AND "DSG2-AS1"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1353515	NM_001943.5(DSG2):c.2002-7C>G	DSG2, DSG2-AS1	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2775233	NM_001943.5(DSG2):c.2002-3C>T	DSG2, DSG2-AS1	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 410369	NM_001943.5(DSG2):c.2004G>A (p.Val668=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 576360	NM_001943.5(DSG2):c.2006T>A (p.Val669Glu)	DSG2, DSG2-AS1 (V669E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 1388667	NM_001943.5(DSG2):c.2014T>C (p.Phe672Leu)	DSG2, DSG2-AS1 (F672L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1476782	NM_001943.5(DSG2):c.2020C>T (p.Pro674Ser)	DSG2, DSG2-AS1 (P674S)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1332397	NM_001943.5(DSG2):c.2026G>A (p.Asp676Asn)	DSG2, DSG2-AS1 (D676N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 178021	NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)	DSG2, DSG2-AS1 (G678A)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 920812	NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser)	DSG2, DSG2-AS1 (G679S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 927290	NM_001943.5(DSG2):c.2043A>T (p.Leu681=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 919383	NM_001943.5(DSG2):c.2059G>T (p.Val687Leu)	DSG2, DSG2-AS1 (V687L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2052727	NM_001943.5(DSG2):c.2063G>A (p.Gly688Glu)	DSG2, DSG2-AS1 (G688E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 925355	NM_001943.5(DSG2):c.2070G>A (p.Met690Ile)	DSG2, DSG2-AS1 (M690I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 449228	NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu)	DSG2, DSG2-AS1 (K692E)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 570467	NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp)	DSG2, DSG2-AS1 (E693D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 618607	NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)	DSG2, DSG2-AS1 (T695M)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 466334	NM_001943.5(DSG2):c.2085G>A (p.Thr695=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 659452	NM_001943.5(DSG2):c.2088G>A (p.Met696Ile)	DSG2, DSG2-AS1 (M696I)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 179294	NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)	DSG2, DSG2-AS1 (S699I)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 222563	NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)	DSG2, DSG2-AS1 (I704V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 920612	NM_001943.5(DSG2):c.2111T>C (p.Ile704Thr)	DSG2, DSG2-AS1 (I704T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 920307	NM_001943.5(DSG2):c.2115C>G (p.Val705=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1171375	NM_001943.5(DSG2):c.2117A>G (p.Lys706Arg)	DSG2, DSG2-AS1 (K706R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 921979	NM_001943.5(DSG2):c.2126A>G (p.His709Arg)	DSG2, DSG2-AS1 (H709R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1331731	NM_001943.5(DSG2):c.2136C>T (p.Ser712=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 44295	NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)	DSG2-AS1, DSG2 (E713K)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 926497	NM_001943.5(DSG2):c.2140A>G (p.Met714Val)	DSG2, DSG2-AS1 (M714V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 963941	NM_001943.5(DSG2):c.2143G>T (p.Asp715Tyr)	DSG2, DSG2-AS1 (D715Y)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1171187	NM_001943.5(DSG2):c.2158G>T (p.Glu720Ter)	DSG2, DSG2-AS1 (E720*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GUncertain significance
Select item 326483	NM_001943.5(DSG2):c.2162A>G (p.His721Arg)	DSG2, DSG2-AS1 (H721R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 422554	NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys)	DSG2, DSG2-AS1 (R722K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 922801	NM_001943.5(DSG2):c.2169C>T (p.Ser723=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 1171174	NM_001943.5(DSG2):c.2172G>A (p.Leu724=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 890201	NM_001943.5(DSG2):c.2178T>C (p.Ser726=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GConflicting classifications of pathogenicity
Select item 923190	NM_001943.5(DSG2):c.2179G>A (p.Gly727Ser)	DSG2, DSG2-AS1 (G727S)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 2775234	NM_001943.5(DSG2):c.2181del (p.Arg728fs)	DSG2, DSG2-AS1 (R728fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 222564	NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)	DSG2, DSG2-AS1 (T730A)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 222565	NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)	DSG2, DSG2-AS1 (Q731P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GConflicting classifications of pathogenicity
Select item 926922	NM_001943.5(DSG2):c.2203G>A (p.Ala735Thr)	DSG2, DSG2-AS1 (A735T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GConflicting classifications of pathogenicity
Select item 44297	NM_001943.5(DSG2):c.2211C>T (p.Gly737=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 44298	NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr)	DSG2, DSG2-AS1 (A738T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 925679	NM_001943.5(DSG2):c.2214T>G (p.Ala738=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 927083	NM_001943.5(DSG2):c.2215A>G (p.Ile739Val)	DSG2, DSG2-AS1 (I739V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 926748	NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu)	DSG2-AS1, DSG2 (I739L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 926225	NM_001943.5(DSG2):c.2220G>C (p.Met740Ile)	DSG2, DSG2-AS1 (M740I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign
Select item 918679	NM_001943.5(DSG2):c.2224A>G (p.Thr742Ala)	DSG2, DSG2-AS1 (T742A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign
Select item 179312	NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)	DSG2, DSG2-AS1 (T745M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 701715	NM_001943.5(DSG2):c.2235G>A (p.Thr745=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GLikely benign
Select item 512434	NM_001943.5(DSG2):c.2241C>T (p.Thr747=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 918958	NM_001943.5(DSG2):c.2242G>A (p.Ala748Thr)	DSG2, DSG2-AS1 (A748T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GConflicting classifications of pathogenicity
Select item 2775235	NM_001943.5(DSG2):c.2243C>T (p.Ala748Val)	DSG2-AS1, DSG2 (A748V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 163216	NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)	DSG2, DSG2-AS1 (T751I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1171851	NM_001943.5(DSG2):c.2257G>T (p.Ala753Ser)	DSG2, DSG2-AS1 (A753S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 629667	NM_001943.5(DSG2):c.2264_2269dup (p.Arg755_Asp756dup)	DSG2, DSG2-AS1	Duplication (inframe_insertion)	Cardiomyopathy	GUncertain significance
Select item 920182	NM_001943.5(DSG2):c.2269A>T (p.Met757Leu)	DSG2, DSG2-AS1 (M757L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 228631	NM_001943.5(DSG2):c.2270T>C (p.Met757Thr)	DSG2, DSG2-AS1 (M757T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 921938	NM_001943.5(DSG2):c.2271G>A (p.Met757Ile)	DSG2-AS1, DSG2 (M757I)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 422190	NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)	DSG2, DSG2-AS1 (G759R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 925191	NM_001943.5(DSG2):c.2276G>C (p.Gly759Ala)	DSG2, DSG2-AS1 (G759A)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 927723	NM_001943.5(DSG2):c.2287G>A (p.Ala763Thr)	DSG2, DSG2-AS1 (A763T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 919751	NM_001943.5(DSG2):c.2304C>T (p.Asn768=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GLikely benign
Select item 163217	NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)	DSG2, DSG2-AS1 (E769K)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 44300	NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys)	DSG2, DSG2-AS1 (R773K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GBenign
Select item 410374	NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)	DSG2, DSG2-AS1 (F776L)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 927859	NM_001943.5(DSG2):c.2335-12_2335-8dup	DSG2, DSG2-AS1	Duplication (intron variant)	Cardiomyopathy	GLikely benign
Select item 927986	NM_001943.5(DSG2):c.2335-8C>G	DSG2, DSG2-AS1	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 918547	NM_001943.5(DSG2):c.2335-7A>C	DSG2, DSG2-AS1	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 701986	NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)	DSG2, DSG2-AS1 (A780V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 921038	NM_001943.5(DSG2):c.2340G>A (p.Ala780=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 509789	NM_001943.5(DSG2):c.2340G>T (p.Ala780=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	DSG2-related disorder +6 more	GLikely benign
Select item 840487	NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser)	DSG2, DSG2-AS1 (A781S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 921330	NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs)	DSG2-AS1, DSG2 (S782fs)	Insertion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 629739	NM_001943.5(DSG2):c.2360A>C (p.Asp787Ala)	DSG2, DSG2-AS1 (D787A)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 199832	NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)	DSG2, DSG2-AS1 (D787G)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 926337	NM_001943.5(DSG2):c.2366A>G (p.Asn789Ser)	DSG2, DSG2-AS1 (N789S)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GConflicting classifications of pathogenicity
Select item 177961	NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)	DSG2, DSG2-AS1 (H790Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 925526	NM_001943.5(DSG2):c.2373A>G (p.Thr791=)	DSG2-AS1, DSG2	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 955124	NM_001943.5(DSG2):c.2377A>G (p.Lys793Glu)	DSG2, DSG2-AS1 (K793E)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 923167	NM_001943.5(DSG2):c.2397T>C (p.Tyr799=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GLikely benign
Select item 199816	NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys)	DSG2, DSG2-AS1 (S800C)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 326485	NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly)	DSG2, DSG2-AS1 (E802G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GUncertain significance
Select item 919425	NM_001943.5(DSG2):c.2418G>A (p.Ser806=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 1563767	NM_001943.5(DSG2):c.2419C>T (p.Leu807=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +1 more	GLikely benign
Select item 701002	NM_001943.5(DSG2):c.2421G>T (p.Leu807=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	DSG2-related disorder +4 more	GLikely benign
Select item 199817	NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)	DSG2, DSG2-AS1 (G812S)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 16814	NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)	DSG2, DSG2-AS1 (G812C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1171082	NM_001943.5(DSG2):c.2439T>C (p.Cys813=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 926414	NM_001943.5(DSG2):c.2442C>T (p.Cys814=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 919012	NM_001943.5(DSG2):c.2467G>C (p.Asp823His)	DSG2, DSG2-AS1 (D823H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 228632	NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly)	DSG2, DSG2-AS1 (D823G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 2775236	NM_001943.5(DSG2):c.2470C>G (p.Arg824Gly)	DSG2, DSG2-AS1 (R824G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 228633	NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)	DSG2, DSG2-AS1 (R824C)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 496663	NM_001943.5(DSG2):c.2471G>A (p.Arg824His)	DSG2, DSG2-AS1 (R824H)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GConflicting classifications of pathogenicity
Select item 926886	NM_001943.5(DSG2):c.2472C>T (p.Arg824=)	DSG2-AS1, DSG2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +1 more	GLikely benign
Select item 1331948	NM_001943.5(DSG2):c.2481T>C (p.Asp827=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GLikely benign
Select item 178020	NM_001943.5(DSG2):c.2484T>C (p.Asp828=)	DSG2-AS1, DSG2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 924229	NM_001943.5(DSG2):c.2488G>T (p.Gly830Ter)	DSG2, DSG2-AS1 (G830*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 928324	NM_001943.5(DSG2):c.2491C>T (p.Leu831Phe)	DSG2, DSG2-AS1 (L831F)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1171271	NM_001943.5(DSG2):c.2497T>A (p.Phe833Ile)	DSG2, DSG2-AS1 (F833I)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 927228	NM_001943.5(DSG2):c.2501A>G (p.Lys834Arg)	DSG2, DSG2-AS1 (K834R)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GUncertain significance

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