"Color Diagnostics, LLC DBA Color Health"[submitter] AND "DSP-AS1"[gen - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2775252	NM_004415.4(DSP):c.-7C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 429571	NM_004415.4(DSP):c.2T>G (p.Met1Arg)	DSP-AS1, DSP (M1R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 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 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)	Lethal acantholytic epidermolysis bullosa +7 more	GBenign/Likely benign
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 504990	NM_004415.4(DSP):c.21C>T (p.Ser7=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GBenign/Likely benign
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 918438	NM_004415.4(DSP):c.34A>C (p.Asn12His)	DSP-AS1, DSP (N12H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 645816	NM_004415.4(DSP):c.38C>T (p.Thr13Ile)	DSP, DSP-AS1 (T13I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 629716	NM_004415.4(DSP):c.46C>A (p.Arg16Ser)	DSP-AS1, DSP (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)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GConflicting classifications of pathogenicity
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 641672	NM_004415.4(DSP):c.55C>A (p.Arg19Ser)	DSP, DSP-AS1 (R19S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 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)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
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 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)	Woolly hair-skin fragility syndrome +9 more	GLikely benign
Select item 2150134	NM_004415.4(DSP):c.81C>G (p.Arg27=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 920480	NM_004415.4(DSP):c.89T>C (p.Val30Ala)	DSP, DSP-AS1 (V30A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1172309	NM_004415.4(DSP):c.96C>T (p.Ser32=)	DSP-AS1, DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GLikely benign
Select item 649579	NM_004415.4(DSP):c.97G>A (p.Gly33Ser)	DSP, DSP-AS1 (G33S)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 925222	NM_004415.4(DSP):c.99C>T (p.Gly33=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GLikely benign
Select item 1171611	NM_004415.4(DSP):c.102C>T (p.Gly34=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GLikely benign
Select item 922929	NM_004415.4(DSP):c.104G>C (p.Gly35Ala)	DSP, DSP-AS1 (G35A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GConflicting classifications of pathogenicity
Select item 36016	NM_004415.4(DSP):c.105G>A (p.Gly35=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 450702	NM_004415.4(DSP):c.106G>A (p.Gly36Ser)	DSP, DSP-AS1 (G36S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 421184	NM_004415.4(DSP):c.107G>C (p.Gly36Ala)	DSP, DSP-AS1 (G36A)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 859674	NM_004415.4(DSP):c.108C>T (p.Gly36=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 762020	NM_004415.4(DSP):c.111C>T (p.Thr37=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 923801	NM_004415.4(DSP):c.117G>T (p.Arg39Ser)	DSP-AS1, DSP (R39S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +4 more	GConflicting classifications of pathogenicity
Select item 926952	NM_004415.4(DSP):c.120G>A (p.Met40Ile)	DSP, DSP-AS1 (M40I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 388263	NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)	DSP, DSP-AS1 (Y41*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +4 more	GPathogenic/Likely pathogenic
Select item 44855	NM_004415.4(DSP):c.126T>C (p.Tyr42=)	DSP-AS1, DSP	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 920095	NM_004415.4(DSP):c.128C>T (p.Ser43Phe)	DSP, DSP-AS1 (S43F)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 923953	NM_004415.4(DSP):c.130C>T (p.Arg44Trp)	DSP, DSP-AS1 (R44W)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 265819	NM_004415.4(DSP):c.136G>A (p.Gly46Ser)	DSP, DSP-AS1 (G46S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 451932	NM_004415.4(DSP):c.137G>A (p.Gly46Asp)	DSP-AS1, DSP (G46D)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 1171934	NM_004415.4(DSP):c.141G>C (p.Val47=)	DSP-AS1, DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 924905	NM_004415.4(DSP):c.142A>G (p.Ile48Val)	DSP, DSP-AS1 (I48V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GLikely benign
Select item 920452	NM_004415.4(DSP):c.146C>T (p.Thr49Ile)	DSP, DSP-AS1 (T49I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GConflicting classifications of pathogenicity
Select item 2775256	NM_004415.4(DSP):c.147C>G (p.Thr49=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775257	NM_004415.4(DSP):c.148G>C (p.Asp50His)	DSP, DSP-AS1 (D50H)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 919562	NM_004415.4(DSP):c.153G>C (p.Gln51His)	DSP, DSP-AS1 (Q51H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1172063	NM_004415.4(DSP):c.154A>G (p.Asn52Asp)	DSP, DSP-AS1 (N52D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1171385	NM_004415.4(DSP):c.157T>C (p.Ser53Pro)	DSP, DSP-AS1 (S53P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GConflicting classifications of pathogenicity
Select item 44864	NM_004415.4(DSP):c.157T>G (p.Ser53Ala)	DSP, DSP-AS1 (S53A)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 848141	NM_004415.4(DSP):c.158C>T (p.Ser53Leu)	DSP, DSP-AS1 (S53L)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 925556	NM_004415.4(DSP):c.162C>T (p.Asp54=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GLikely benign
Select item 496239	NM_004415.4(DSP):c.163G>T (p.Gly55Cys)	DSP, DSP-AS1 (G55C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 925108	NM_004415.4(DSP):c.165C>T (p.Gly55=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GLikely benign
Select item 2480522	NM_004415.4(DSP):c.167A>G (p.Tyr56Cys)	DSP, DSP-AS1 (Y56C)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 927371	NM_004415.4(DSP):c.170+3G>A	DSP, DSP-AS1	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance

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Items: 62