DSG2-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 60208	GRCh38/hg38 18q12.1(chr18:29879161-31727247)x3	B4GALT6, DSC1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152371	GRCh38/hg38 18q12.1(chr18:31173251-31677694)x3	B4GALT6, DSG1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 150285	GRCh38/hg38 18q12.1(chr18:31318837-31586401)x3	DSG1, DSG1-AS1 +12 more	Copy number gain	See cases	GLikely benign
Select item 1282283	NM_001943.5(DSG2):c.2002-216T>C	DSG2, DSG2-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1228015	NM_001943.5(DSG2):c.2002-135A>G	DSG2, DSG2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 3069682	NM_001943.5(DSG2):c.2002G>A (p.Val668Met)	DSG2, DSG2-AS1 (V668M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 2700773	NM_001943.5(DSG2):c.2004G>T (p.Val668=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	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 1549222	NM_001943.5(DSG2):c.2007G>A (p.Val669=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
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 1784355	NM_001943.5(DSG2):c.2008C>T (p.Pro670Ser)	DSG2, DSG2-AS1 (P670S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3070900	NM_001943.5(DSG2):c.2009C>T (p.Pro670Leu)	DSG2, DSG2-AS1 (P670L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 761674	NM_001943.5(DSG2):c.2010A>G (p.Pro670=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
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 326482	NM_001943.5(DSG2):c.2019G>C (p.Leu673=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	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 1784660	NM_001943.5(DSG2):c.2026G>C (p.Asp676His)	DSG2, DSG2-AS1 (D676H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1922233	NM_001943.5(DSG2):c.2033G>T (p.Gly678Val)	DSG2, DSG2-AS1 (G678V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	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 3221939	NM_001943.5(DSG2):c.2036G>T (p.Gly679Val)	DSG2, DSG2-AS1 (G679V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1975020	NM_001943.5(DSG2):c.2040T>C (p.Ser680=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
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 2188947	NM_001943.5(DSG2):c.2047G>C (p.Gly683Arg)	DSG2, DSG2-AS1 (G683R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2138143	NM_001943.5(DSG2):c.2050A>G (p.Arg684Gly)	DSG2, DSG2-AS1 (R684G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3069975	NM_001943.5(DSG2):c.2058A>C (p.Gly686=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	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 1952214	NM_001943.5(DSG2):c.2065G>C (p.Gly689Arg)	DSG2, DSG2-AS1 (G689R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 937702	NM_001943.5(DSG2):c.2068A>G (p.Met690Val)	DSG2-AS1, DSG2 (M690V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 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 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 1420577	NM_001943.5(DSG2):c.2077G>A (p.Glu693Lys)	DSG2, DSG2-AS1 (E693K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	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 3070711	NM_001943.5(DSG2):c.2081C>A (p.Ala694Asp)	DSG2-AS1, DSG2 (A694D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 2162970	NM_001943.5(DSG2):c.2081C>G (p.Ala694Gly)	DSG2, DSG2-AS1 (A694G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 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 466335	NM_001943.5(DSG2):c.2085G>C (p.Thr695=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 1785655	NM_001943.5(DSG2):c.2087T>G (p.Met696Arg)	DSG2, DSG2-AS1 (M696R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1303445	NM_001943.5(DSG2):c.2090A>G (p.Lys697Arg)	DSG2, DSG2-AS1 (K697R)	Single nucleotide variant (missense variant)	not provided	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 2044817	NM_001943.5(DSG2):c.2098A>G (p.Ser700Gly)	DSG2, DSG2-AS1 (S700G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 44294	NM_001943.5(DSG2):c.2100C>T (p.Ser700=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 3074507	NM_001943.5(DSG2):c.2101T>A (p.Ser701Thr)	DSG2-AS1, DSG2 (S701T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1383059	NM_001943.5(DSG2):c.2104G>A (p.Ala702Thr)	DSG2, DSG2-AS1 (A702T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 3221940	NM_001943.5(DSG2):c.2105C>G (p.Ala702Gly)	DSG2, DSG2-AS1 (A702G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 199791	NM_001943.5(DSG2):c.2112T>G (p.Ile704Met)	DSG2, DSG2-AS1 (I704M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 3074660	NM_001943.5(DSG2):c.2119G>A (p.Gly707Arg)	DSG2, DSG2-AS1 (G707R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
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 1993008	NM_001943.5(DSG2):c.2124A>T (p.Gln708His)	DSG2, DSG2-AS1 (Q708H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	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 227338	NM_001943.5(DSG2):c.2127T>C (p.His709=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 648493	NM_001943.5(DSG2):c.2134_2142del (p.Ser712_Met714del)	DSG2, DSG2-AS1	Deletion (inframe_deletion)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3071208	NM_001943.5(DSG2):c.2135C>T (p.Ser712Phe)	DSG2, DSG2-AS1 (S712F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular 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 1786487	NM_001943.5(DSG2):c.2137_2138delinsAC (p.Glu713Thr)	DSG2, DSG2-AS1 (E713T)	Indel (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 44295	NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)	DSG2, DSG2-AS1 (E713K)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1720870	NM_001943.5(DSG2):c.2139G>C (p.Glu713Asp)	DSG2, DSG2-AS1 (E713D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 199815	NM_001943.5(DSG2):c.2155G>A (p.Glu719Lys)	DSG2, DSG2-AS1 (E719K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3069894	NM_001943.5(DSG2):c.2156A>G (p.Glu719Gly)	DSG2, DSG2-AS1 (E719G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	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 1023929	NM_001943.5(DSG2):c.2166A>T (p.Arg722Ser)	DSG2, DSG2-AS1 (R722S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3071849	NM_001943.5(DSG2):c.2169C>G (p.Ser723Arg)	DSG2, DSG2-AS1 (S723R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	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 945157	NM_001943.5(DSG2):c.2174T>C (p.Leu725Pro)	DSG2, DSG2-AS1 (L725P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
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 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 2775234	NM_001943.5(DSG2):c.2181del (p.Arg728fs)	DSG2, DSG2-AS1 (R728fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance

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