DSC1[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +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	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	LOC130062386, LOC130062387 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	LINC01900, LINC01908 +282 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +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 58324	GRCh38/hg38 18q12.1(chr18:31016495-31171928)x1	DSC1, DSC2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3085847	NM_024421.2(DSC1):c.2671T>A (p.Cys891Ser)	DSC1, DSCAS (C891S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2591503	NM_024421.2(DSC1):c.2611G>C (p.Glu871Gln)	DSC1, DSCAS (E871Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2534896	NM_024421.2(DSC1):c.2603G>T (p.Arg868Leu)	DSC1, DSCAS (R868L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2590110	NM_024421.2(DSC1):c.2578G>A (p.Gly860Ser)	DSC1, DSCAS (G860S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2242585	NM_024421.2(DSC1):c.2575G>A (p.Ala859Thr)	DSC1, DSCAS (A859T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2303972	NM_024421.2(DSC1):c.2551A>G (p.Asn851Asp)	DSC1, DSCAS (N851D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2236225	NM_024421.2(DSC1):c.2477G>A (p.Arg826Gln)	DSC1, DSCAS (R826Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085846	NM_024421.2(DSC1):c.2396C>T (p.Thr799Ile)	DSC1, DSCAS (T799I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305438	NM_024421.2(DSC1):c.2396C>A (p.Thr799Asn)	DSC1, DSCAS (T799N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479966	NM_024421.2(DSC1):c.2318G>C (p.Gly773Ala)	DSC1, DSCAS (G773A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381371	NM_024421.2(DSC1):c.2292G>A (p.Met764Ile)	DSC1, DSCAS (M764I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085845	NM_024421.2(DSC1):c.2269T>G (p.Ser757Ala)	DSC1, DSCAS (S757A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309718	NM_024421.2(DSC1):c.2173C>T (p.Pro725Ser)	DSC1, DSCAS (P725S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464615	NM_024421.2(DSC1):c.2150A>G (p.Lys717Arg)	DSC1, DSCAS (K717R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789105	NM_024421.2(DSC1):c.2130A>G (p.Thr710=)	DSC1, DSCAS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3085843	NM_024421.2(DSC1):c.2078C>T (p.Ala693Val)	DSC1, DSCAS (A693V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374175	NM_024421.2(DSC1):c.2035A>T (p.Ser679Cys)	DSC1, DSCAS (S679C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486030	NM_024421.2(DSC1):c.1988G>C (p.Arg663Thr)	DSC1, DSCAS (R663T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714749	NM_024421.2(DSC1):c.1976T>G (p.Met659Arg)	DSC1, DSCAS (M659R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3085842	NM_024421.2(DSC1):c.1925A>T (p.Tyr642Phe)	DSC1, DSCAS (Y642F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411818	NM_024421.2(DSC1):c.1901G>T (p.Arg634Leu)	DSC1, DSCAS (R634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406887	NM_024421.2(DSC1):c.1873G>T (p.Asp625Tyr)	DSC1, DSCAS (D625Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361767	NM_024421.2(DSC1):c.1817C>G (p.Pro606Arg)	DSC1, DSCAS (P606R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264381	NM_024421.2(DSC1):c.1748T>C (p.Ile583Thr)	DSC1, DSCAS (I583T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352411	NM_024421.2(DSC1):c.1720G>A (p.Ala574Thr)	DSC1, DSCAS (A574T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527203	NM_024421.2(DSC1):c.1694T>C (p.Val565Ala)	DSC1, DSCAS (V565A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222741	NM_024421.2(DSC1):c.1589T>G (p.Leu530Arg)	DSC1, DSCAS (L530R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781398	NM_024421.2(DSC1):c.1520+9C>G	DSC1, DSCAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2557017	NM_024421.2(DSC1):c.1504A>G (p.Ser502Gly)	DSC1, DSCAS (S502G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494707	NM_024421.2(DSC1):c.1387A>G (p.Ile463Val)	DSC1, DSCAS (I463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475482	NM_024421.2(DSC1):c.1327T>C (p.Ser443Pro)	DSC1, DSCAS (S443P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085841	NM_024421.2(DSC1):c.1270T>G (p.Tyr424Asp)	DSC1, DSCAS (Y424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085840	NM_024421.2(DSC1):c.1217G>C (p.Ser406Thr)	DSC1, DSCAS (S406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085839	NM_024421.2(DSC1):c.1105G>A (p.Asp369Asn)	DSC1, DSCAS (D369N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213651	NM_024421.2(DSC1):c.847A>C (p.Ile283Leu)	DSC1, DSCAS (I283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481028	NM_024421.2(DSC1):c.833G>A (p.Arg278His)	DSC1, DSCAS (R278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508380	NM_024421.2(DSC1):c.626C>T (p.Ala209Val)	DSC1, DSCAS (A209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783800	NM_024421.2(DSC1):c.599T>C (p.Ile200Thr)	DSC1, DSCAS (I200T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2524862	NM_024421.2(DSC1):c.560T>C (p.Ile187Thr)	DSC1, DSCAS (I187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392416	NM_024421.2(DSC1):c.559A>G (p.Ile187Val)	DSC1, DSCAS (I187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465737	NM_024421.2(DSC1):c.503T>C (p.Ile168Thr)	DSC1, DSCAS (I168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085849	NM_024421.2(DSC1):c.371C>T (p.Thr124Ile)	DSC1, DSCAS (T124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457374	NM_024421.2(DSC1):c.326T>C (p.Val109Ala)	DSC1, DSCAS (V109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518379	NM_024421.2(DSC1):c.325G>A (p.Val109Ile)	DSC1, DSCAS (V109I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403273	NM_024421.2(DSC1):c.304C>T (p.Arg102Trp)	DSC1, DSCAS (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284462	NM_024421.2(DSC1):c.188G>A (p.Arg63Gln)	DSC1, DSCAS (R63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262745	NM_024421.2(DSC1):c.94A>G (p.Lys32Glu)	DSC1, DSCAS (K32E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204962	NM_024421.2(DSC1):c.42G>C (p.Lys14Asn)	DSC1, DSCAS (K14N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3085848	NM_024421.2(DSC1):c.29G>A (p.Ser10Asn)	DSC1, DSCAS (S10N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2424326	NC_000018.9:g.(?_28647981)_(29648347_?)dup	B4GALT6, DSC1 +9 more	Duplication	not provided	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526609	GRCh37/hg19 18q12.1(chr18:28651723-28714827)	DSC1, DSC2	Copy number loss	not specified	GUncertain significance
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
Select item 979691	GRCh37/hg19 18q12.1(chr18:25329706-29734723)x3	B4GALT6, CDH2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 833405	NC_000018.9:g.(?_28647971)_(29178648_?)dup	DSC1, TTR +5 more	Duplication	Familial amyloid neuropathy	GUncertain significance
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 564542	GRCh37/hg19 18q12.1(chr18:26693886-29208276)x3	B4GALT6, DSC1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 90