1829[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 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 890093	NM_001943.4(DSG2):c.-178G>A	DSG2, LOC130062340	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 326462	NM_001943.4(DSG2):c.-156G>A	DSG2, LOC130062340	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 326463	NM_001943.4(DSG2):c.-153dup	DSG2, LOC130062340	Duplication	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 890094	NM_001943.4(DSG2):c.-144G>A	DSG2, LOC130062340	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 326464	NM_001943.4(DSG2):c.-135A>T	DSG2, LOC130062340	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 326465	NM_001943.4(DSG2):c.-94G>C	DSG2, LOC130062340	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 326466	NM_001943.4(DSG2):c.-79C>G	DSG2, LOC130062340	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 326467	NM_001943.5(DSG2):c.-55G>C	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188443	NM_001943.5(DSG2):c.-41_-21del	DSG2, LOC130062340	Deletion (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 326468	NM_001943.5(DSG2):c.-44C>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 1269521	NM_001943.5(DSG2):c.-37G>C	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 890672	NM_001943.5(DSG2):c.-33G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 1012911	NM_001943.5(DSG2):c.-21_6del (p.Met1_Ala2del)	DSG2, LOC130062340	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 380755	NM_001943.5(DSG2):c.-22G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2563307	NM_001943.5(DSG2):c.-11_11dup (p.Ser4fs)	DSG2, LOC130062340 (S4fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 388620	NM_001943.5(DSG2):c.-16C>G	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 163198	NM_001943.5(DSG2):c.-15G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 922399	NM_001943.5(DSG2):c.-12G>A	LOC130062340, DSG2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 178664	NM_001943.5(DSG2):c.-11G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 3075425	NM_001943.5(DSG2):c.-5del	DSG2, LOC130062340	Deletion (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326469	NM_001943.5(DSG2):c.-4T>G	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 926635	NM_001943.5(DSG2):c.-3G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1171237	NM_001943.5(DSG2):c.-2C>T	LOC130062340, DSG2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 3071043	NM_001943.5(DSG2):c.-1G>A	LOC130062340, DSG2	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 510690	NM_001943.5(DSG2):c.-1G>C	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1172391	NM_001943.5(DSG2):c.1A>T (p.Met1Leu)	LOC130062340, DSG2 (M1L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 924921	NM_001943.5(DSG2):c.1A>C (p.Met1Leu)	DSG2, LOC130062340 (M1L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 657863	NM_001943.5(DSG2):c.3G>A (p.Met1Ile)	LOC130062340, DSG2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 1171456	NM_001943.5(DSG2):c.6G>T (p.Ala2=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 137166	NM_001943.5(DSG2):c.6G>A (p.Ala2=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 2695863	NM_001943.5(DSG2):c.7C>G (p.Arg3Gly)	DSG2, LOC130062340 (R3G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1438100	NM_001943.5(DSG2):c.8G>A (p.Arg3Gln)	DSG2, LOC130062340 (R3Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GConflicting classifications of pathogenicity
Select item 2183856	NM_001943.5(DSG2):c.10A>C (p.Ser4Arg)	DSG2, LOC130062340 (S4R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 924083	NM_001943.5(DSG2):c.10A>G (p.Ser4Gly)	LOC130062340, DSG2 (S4G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 1769349	NM_001943.5(DSG2):c.12C>T (p.Ser4=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GLikely benign
Select item 1769342	NM_001943.5(DSG2):c.12C>G (p.Ser4Arg)	DSG2, LOC130062340 (S4R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3074080	NM_001943.5(DSG2):c.13C>T (p.Pro5Ser)	DSG2, LOC130062340 (P5S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	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 496147	NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)	DSG2, LOC130062340 (P5L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1776149	NM_001943.5(DSG2):c.15G>A (p.Pro5=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 326470	NM_001943.5(DSG2):c.15G>C (p.Pro5=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2085210	NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)	DSG2, LOC130062340 (R7P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 2775202	NM_001943.5(DSG2):c.21C>T (p.Arg7=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 3221941	NM_001943.5(DSG2):c.22G>C (p.Ala8Pro)	DSG2, LOC130062340 (A8P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 918240	NM_001943.5(DSG2):c.22G>A (p.Ala8Thr)	DSG2, LOC130062340 (A8T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1792230	NM_001943.5(DSG2):c.24G>C (p.Ala8=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3069565	NM_001943.5(DSG2):c.25T>G (p.Tyr9Asp)	DSG2, LOC130062340 (Y9D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1466114	NM_001943.5(DSG2):c.26A>T (p.Tyr9Phe)	DSG2, LOC130062340 (Y9F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1455568	NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter)	DSG2, LOC130062340 (Y9*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 629781	NM_001943.5(DSG2):c.30C>A (p.Ala10=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 2770046	NM_001943.5(DSG2):c.31C>G (p.Leu11Val)	DSG2, LOC130062340 (L11V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 762484	NM_001943.5(DSG2):c.31C>T (p.Leu11=)	LOC130062340, DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1393923	NM_001943.5(DSG2):c.32T>G (p.Leu11Arg)	DSG2, LOC130062340 (L11R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1731044	NM_001943.5(DSG2):c.33G>C (p.Leu11=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3070070	NM_001943.5(DSG2):c.35del (p.Leu12fs)	LOC130062340, DSG2 (L12fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 920722	NM_001943.5(DSG2):c.37C>T (p.Leu13Phe)	DSG2, LOC130062340 (L13F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 628323	NM_001943.5(DSG2):c.38T>G (p.Leu13Arg)	DSG2, LOC130062340 (L13R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	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 1023346	NM_001943.5(DSG2):c.42_44del (p.Leu15del)	DSG2, LOC130062340 (L15del)	Deletion (inframe_deletion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 466342	NM_001943.5(DSG2):c.42C>T (p.Leu14=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 44318	NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)	DSG2, LOC130062340 (L15Q)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 2625494	NM_001943.5(DSG2):c.45G>A (p.Leu15=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 973533	NM_001943.5(DSG2):c.45+1G>C	DSG2, LOC130062340	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 925437	NM_001943.5(DSG2):c.45+1G>T	DSG2, LOC130062340	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GConflicting classifications of pathogenicity
Select item 567764	NM_001943.5(DSG2):c.45+1G>A	DSG2, LOC130062340	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely pathogenic
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 1359710	NM_001943.5(DSG2):c.45+5G>C	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 923077	NM_001943.5(DSG2):c.45+6T>C	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GConflicting classifications of pathogenicity
Select item 1919341	NM_001943.5(DSG2):c.45+8C>T	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 534691	NM_001943.5(DSG2):c.45+9C>T	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 466343	NM_001943.5(DSG2):c.45+9C>G	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GConflicting classifications of pathogenicity
Select item 758426	NM_001943.5(DSG2):c.45+10G>A	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 326471	NM_001943.5(DSG2):c.45+10G>T	LOC130062340, DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GConflicting classifications of pathogenicity
Select item 2910509	NM_001943.5(DSG2):c.45+15del	DSG2, LOC130062340	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1284722	NM_001943.5(DSG2):c.45+16G>C	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GBenign/Likely benign
Select item 1296354	NM_001943.5(DSG2):c.45+17G>A	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GBenign/Likely benign
Select item 2137878	NM_001943.5(DSG2):c.45+18G>A	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1401338	NM_001943.5(DSG2):c.45+18G>T	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1623554	NM_001943.5(DSG2):c.45+19A>G	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 683472	NM_001943.5(DSG2):c.45+257A>C	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2164358	NM_001943.5(DSG2):c.46-14A>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign

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