1832[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 669423	NR_183327.1(DSP-AS1):n.75C>T	DSP, DSP-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 683473	NR_183327.1(DSP-AS1):n.47C>G	DSP, DSP-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 369568	NM_004415.3(DSP):c.-281C>T	DSP, DSP-AS1	Single nucleotide variant	Epidermolysis bullosa simplex due to plakophilin deficiency +3 more	GLikely benign
Select item 357929	NM_004415.3(DSP):c.-260A>G	DSP, DSP-AS1	Single nucleotide variant	Lethal acantholytic epidermolysis bullosa +3 more	GUncertain significance
Select item 357930	NM_004415.4(DSP):c.-228C>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357931	NM_004415.4(DSP):c.-190G>T	DSP-AS1, DSP	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357932	NM_004415.4(DSP):c.-179T>C	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357933	NM_004415.4(DSP):c.-157G>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Woolly hair-skin fragility syndrome +5 more	GUncertain significance
Select item 909575	NM_004415.4(DSP):c.-104G>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 909576	NM_004415.4(DSP):c.-76C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 910508	NM_004415.4(DSP):c.-70C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GUncertain significance
Select item 511763	NM_004415.4(DSP):c.-44G>A	DSP-AS1, DSP	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 357934	NM_004415.4(DSP):c.-36C>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 1296491	NM_004415.4(DSP):c.-34C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 681790	NM_004415.4(DSP):c.-32G>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 664448	NC_000006.12:g.(?_7541896)_(7585898_?)del	DSP-AS1, LOC110121274 +1 more	Deletion	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2775251	NM_004415.4(DSP):c.-15C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 649078	NC_000006.12:g.(?_7541906)_(7585888_?)del	DSP, DSP-AS1 +1 more	Deletion	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2775252	NM_004415.4(DSP):c.-7C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1784217	NM_004415.4(DSP):c.-2_-1delinsGCA	DSP, DSP-AS1	Indel (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 36015	NM_004415.4(DSP):c.1dup (p.Met1fs)	DSP, DSP-AS1 (M1fs)	Duplication	Arrhythmogenic right ventricular cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 429736	NM_004415.4(DSP):c.1A>G (p.Met1Val)	DSP, DSP-AS1 (M1V)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 429571	NM_004415.4(DSP):c.2T>G (p.Met1Arg)	DSP, DSP-AS1 (M1R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GUncertain significance
Select item 2932659	NM_004415.4(DSP):c.5G>C (p.Ser2Thr)	DSP, DSP-AS1 (S2T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 921529	NM_004415.4(DSP):c.6C>T (p.Ser2=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 1357621	NM_004415.4(DSP):c.8G>A (p.Cys3Tyr)	DSP, DSP-AS1 (C3Y)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 1305568	NM_004415.4(DSP):c.9C>G (p.Cys3Trp)	DSP, DSP-AS1 (C3W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 357935	NM_004415.4(DSP):c.9C>T (p.Cys3=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 377806	NM_004415.4(DSP):c.12C>T (p.Asn4=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 44858	NM_004415.4(DSP):c.12C>G (p.Asn4Lys)	DSP, DSP-AS1 (N4K)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 1005999	NM_004415.4(DSP):c.14G>C (p.Gly5Ala)	DSP, DSP-AS1 (G5A)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 1497522	NM_004415.4(DSP):c.17G>C (p.Gly6Ala)	DSP, DSP-AS1 (G6A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 925001	NM_004415.4(DSP):c.17G>A (p.Gly6Asp)	DSP, DSP-AS1 (G6D)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 2001915	NM_004415.4(DSP):c.20C>T (p.Ser7Phe)	DSP, DSP-AS1 (S7F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 504990	NM_004415.4(DSP):c.21C>T (p.Ser7=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 3074728	NM_004415.4(DSP):c.23A>T (p.His8Leu)	DSP, DSP-AS1 (H8L)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3074260	NM_004415.4(DSP):c.24C>A (p.His8Gln)	DSP, DSP-AS1 (H8Q)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 923354	NM_004415.4(DSP):c.26C>A (p.Pro9Gln)	DSP, DSP-AS1 (P9Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 754798	NM_004415.4(DSP):c.30G>T (p.Arg10=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2117811	NM_004415.4(DSP):c.31A>G (p.Ile11Val)	DSP, DSP-AS1 (I11V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 918438	NM_004415.4(DSP):c.34A>C (p.Asn12His)	DSP-AS1, DSP (N12H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 661820	NM_004415.4(DSP):c.35A>G (p.Asn12Ser)	DSP, DSP-AS1 (N12S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 357936	NM_004415.4(DSP):c.36C>T (p.Asn12=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +3 more	GConflicting classifications of pathogenicity
Select item 2933470	NM_004415.4(DSP):c.37A>G (p.Thr13Ala)	DSP, DSP-AS1 (T13A)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 645816	NM_004415.4(DSP):c.38C>T (p.Thr13Ile)	DSP, DSP-AS1 (T13I)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 2632353	NM_004415.4(DSP):c.44_68del (p.Gly15fs)	DSP, DSP-AS1 (G15fs)	Deletion (frameshift variant)	DSP-related disorder	GLikely pathogenic
Select item 3071495	NM_004415.4(DSP):c.40C>G (p.Leu14Val)	DSP, DSP-AS1 (L14V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 1740319	NM_004415.4(DSP):c.43G>A (p.Gly15Ser)	DSP, DSP-AS1 (G15S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 864283	NM_004415.4(DSP):c.44G>A (p.Gly15Asp)	DSP, DSP-AS1 (G15D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 1742538	NM_004415.4(DSP):c.46C>T (p.Arg16Cys)	DSP, DSP-AS1 (R16C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 629716	NM_004415.4(DSP):c.46C>A (p.Arg16Ser)	DSP, DSP-AS1 (R16S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 923187	NM_004415.4(DSP):c.47G>A (p.Arg16His)	DSP, DSP-AS1 (R16H)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 199913	NM_004415.4(DSP):c.47G>C (p.Arg16Pro)	DSP, DSP-AS1 (R16P)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 1602851	NM_004415.4(DSP):c.48C>A (p.Arg16=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2453249	NM_004415.4(DSP):c.49A>G (p.Met17Val)	DSP, DSP-AS1 (M17V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1431128	NM_004415.4(DSP):c.50T>C (p.Met17Thr)	DSP, DSP-AS1 (M17T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 579313	NM_004415.4(DSP):c.50T>G (p.Met17Arg)	DSP-AS1, DSP (M17R)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GUncertain significance
Select item 3070521	NM_004415.4(DSP):c.51del (p.Met17fs)	DSP, DSP-AS1 (M17fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GPathogenic
Select item 2775253	NM_004415.4(DSP):c.52A>C (p.Ile18Leu)	DSP, DSP-AS1 (I18L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1172205	NM_004415.4(DSP):c.53T>C (p.Ile18Thr)	DSP-AS1, DSP (I18T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign
Select item 3074652	NM_004415.4(DSP):c.54C>G (p.Ile18Met)	DSP, DSP-AS1 (I18M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3069310	NM_004415.4(DSP):c.55C>G (p.Arg19Gly)	DSP, DSP-AS1 (R19G)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 641672	NM_004415.4(DSP):c.55C>A (p.Arg19Ser)	DSP, DSP-AS1 (R19S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 222570	NM_004415.4(DSP):c.55C>T (p.Arg19Cys)	DSP, DSP-AS1 (R19C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 1464775	NM_004415.4(DSP):c.56G>A (p.Arg19His)	DSP, DSP-AS1 (R19H)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GUncertain significance
Select item 1366084	NM_004415.4(DSP):c.57C>A (p.Arg19=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2775254	NM_004415.4(DSP):c.60C>T (p.Ala20=)	DSP-AS1, DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 465903	NM_004415.4(DSP):c.61G>A (p.Glu21Lys)	DSP, DSP-AS1 (E21K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3070098	NM_004415.4(DSP):c.63G>T (p.Glu21Asp)	DSP, DSP-AS1 (E21D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 2930487	NM_004415.4(DSP):c.63G>A (p.Glu21=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 1475044	NM_004415.4(DSP):c.64T>C (p.Ser22Pro)	DSP, DSP-AS1 (S22P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2130501	NM_004415.4(DSP):c.65C>G (p.Ser22Cys)	DSP, DSP-AS1 (S22C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 918674	NM_004415.4(DSP):c.67G>A (p.Gly23Ser)	DSP, DSP-AS1 (G23S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GUncertain significance
Select item 1035001	NM_004415.4(DSP):c.71C>T (p.Pro24Leu)	DSP, DSP-AS1 (P24L)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 979103	NM_004415.4(DSP):c.71C>G (p.Pro24Arg)	DSP, DSP-AS1 (P24R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8	GUncertain significance
Select item 1632338	NM_004415.4(DSP):c.72G>A (p.Pro24=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 1463598	NM_004415.4(DSP):c.73G>T (p.Asp25Tyr)	DSP, DSP-AS1 (D25Y)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2145222	NM_004415.4(DSP):c.78G>A (p.Leu26=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 1332355	NM_004415.4(DSP):c.78G>C (p.Leu26=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 534320	NM_004415.4(DSP):c.78G>T (p.Leu26=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GLikely benign
Select item 3224251	NM_004415.4(DSP):c.79C>G (p.Arg27Gly)	DSP, DSP-AS1 (R27G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224252	NM_004415.4(DSP):c.80G>A (p.Arg27His)	DSP, DSP-AS1 (R27H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2150134	NM_004415.4(DSP):c.81C>G (p.Arg27=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GLikely benign
Select item 465915	NM_004415.4(DSP):c.81C>A (p.Arg27=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GLikely benign
Select item 2656209	NM_004415.4(DSP):c.82T>C (p.Tyr28His)	DSP, DSP-AS1 (Y28H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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