1824[geneid] - 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	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +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	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 151144	GRCh38/hg38 18q12.1(chr18:29365057-31236305)x1	DSC1, DSC2 +10 more	Copy number loss	See cases	GPathogenic
Select item 60207	GRCh38/hg38 18q12.1(chr18:29444510-31247986)x3	DSC1, DSC2 +9 more	Copy number gain	See cases	GUncertain significance
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 152370	GRCh38/hg38 18q12.1(chr18:30496396-31108811)x3	DSC2, DSC3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 58324	GRCh38/hg38 18q12.1(chr18:31016495-31171928)x1	DSC1, DSC2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 892423	NM_024422.6(DSC2):c.*2029A>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 892424	NM_024422.6(DSC2):c.*1972A>C	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 889038	NM_024422.6(DSC2):c.*1927T>C	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 326358	NM_024422.6(DSC2):c.*1923C>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 889039	NM_024422.6(DSC2):c.*1877T>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326359	NM_024422.6(DSC2):c.*1784G>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326360	NM_024422.6(DSC2):c.*1704G>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 889040	NM_024422.6(DSC2):c.*1700T>C	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 889041	NM_024422.6(DSC2):c.*1658G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326361	NM_024422.6(DSC2):c.*1628T>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326362	NM_024422.6(DSC2):c.*1604A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 889731	NM_024422.6(DSC2):c.*1541A>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326363	NM_024422.6(DSC2):c.*1475G>C	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 326364	NM_024422.6(DSC2):c.*1453C>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326365	NM_024422.6(DSC2):c.*1444A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326366	NM_024422.6(DSC2):c.*1408A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326367	NM_024422.6(DSC2):c.*1401C>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 889732	NM_024422.6(DSC2):c.*1356G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 889733	NM_024422.6(DSC2):c.*1346T>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 891279	NM_024422.6(DSC2):c.*1283A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 326368	NM_024422.6(DSC2):c.*1237G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326369	NM_024422.6(DSC2):c.*1183G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326370	NM_024422.6(DSC2):c.*1158A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326371	NM_024422.6(DSC2):c.*1126G>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 891280	NM_024422.6(DSC2):c.*1110A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326372	NM_024422.6(DSC2):c.*1104G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326373	NM_024422.6(DSC2):c.*1096T>C	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GBenign
Select item 326374	NM_024422.6(DSC2):c.*1017C>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 891281	NM_024422.6(DSC2):c.*1003T>C	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326375	NM_024422.6(DSC2):c.*934C>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 891282	NM_024422.6(DSC2):c.*926G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326376	NM_024422.6(DSC2):c.*864G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326377	NM_024422.6(DSC2):c.*833G>C	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 892474	NM_024422.6(DSC2):c.*798T>C	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326378	NM_024422.6(DSC2):c.*784G>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326379	NM_024422.6(DSC2):c.*764dup	DSC2	Duplication (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326381	NM_024422.6(DSC2):c.*764T>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326380	NM_024422.6(DSC2):c.*764del	DSC2	Deletion (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 892475	NM_024422.6(DSC2):c.*753T>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326382	NM_024422.6(DSC2):c.*709CT[3]	DSC2	Microsatellite (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326383	NM_024422.6(DSC2):c.*705G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 892476	NM_024422.6(DSC2):c.*692A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326384	NM_024422.6(DSC2):c.*640G>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326385	NM_024422.6(DSC2):c.*579T>C	DSC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 326386	NM_024422.6(DSC2):c.*534A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 889096	NM_024422.6(DSC2):c.*472T>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326387	NM_024422.6(DSC2):c.*422C>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326388	NM_024422.6(DSC2):c.*185A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326389	NM_024422.6(DSC2):c.*166C>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 326390	NM_024422.6(DSC2):c.*137A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 326391	NM_024422.6(DSC2):c.*133G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 326392	NM_024422.6(DSC2):c.*46A>T	DSC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 918432	NM_024422.6(DSC2):c.*3G>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 3074889	NM_024422.6(DSC2):c.*1G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 2775166	NM_024422.6(DSC2):c.2705G>A (p.Ter902=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 919658	NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 3071004	NM_024422.6(DSC2):c.2701A>G (p.Arg901Gly)	DSC2 (R758G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 2066513	NM_024422.6(DSC2):c.2695A>T (p.Met899Leu)	DSC2 (M756L +1 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GConflicting classifications of pathogenicity
Select item 925175	NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter)	DSC2 (C898*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 2193223	NM_024422.6(DSC2):c.2693G>T (p.Cys898Phe)	DSC2 (C755F +1 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 1332455	NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg)	DSC2 (C898R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 917605	NM_024422.6(DSC2):c.2691A>G (p.Ala897=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GLikely benign
Select item 46186	NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)	DSC2 (A897fs)	Duplication (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +6 more	GBenign/Likely benign
Select item 1256763	NM_024422.6(DSC2):c.2685dup (p.Glu896fs)	DSC2 (E896fs)	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1261032	NM_024422.6(DSC2):c.2684_2685insG (p.Glu896fs)	DSC2 (E896fs)	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 926923	NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly)	DSC2 (A895G)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 410646	NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr)	DSC2 (A895T)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GUncertain significance
Select item 1171567	NM_024422.6(DSC2):c.2669A>G (p.Lys890Arg)	DSC2 (K890R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1491801	NM_024422.6(DSC2):c.2666C>A (p.Pro889His)	DSC2 (P889H)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 1515884	NM_024422.6(DSC2):c.2664G>C (p.Glu888Asp)	DSC2 (E888D)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 218797	NM_024422.6(DSC2):c.2664G>T (p.Glu888Asp)	DSC2 (E888D)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 560612	NM_024422.6(DSC2):c.2648T>G (p.Phe883Cys)	DSC2 (F883C)	Single nucleotide variant (3 prime UTR variant +1 more)	Left ventricular hypertrophy	GUncertain significance
Select item 1332545	NM_024422.6(DSC2):c.2646A>G (p.Glu882=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +1 more	GLikely benign
Select item 927699	NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys)	DSC2 (E882K)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GUncertain significance
Select item 1423280	NM_024422.6(DSC2):c.2642T>A (p.Leu881His)	DSC2 (L881H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1619723	NM_024422.6(DSC2):c.2640G>A (p.Gly880=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 2726728	NM_024422.6(DSC2):c.2639G>A (p.Gly880Glu)	DSC2 (G737E +1 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 1172326	NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg)	DSC2 (G880R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3073398	NM_024422.6(DSC2):c.2637T>C (p.Asp879=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 1332645	NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del)	DSC2 (E878del)	Microsatellite (3 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance

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