"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	Cardiomyopathy +4 more	GLikely 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)	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 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 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 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 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 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 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 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 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 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 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 534320	NM_004415.4(DSP):c.78G>T (p.Leu26=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GLikely benign
Select item 534307	NM_004415.4(DSP):c.82T>G (p.Tyr28Asp)	DSP, DSP-AS1 (Y28D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 3069758	NM_004415.4(DSP):c.90G>A (p.Val30=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3070659	NM_004415.4(DSP):c.95G>A (p.Ser32Asn)	DSP, DSP-AS1 (S32N)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
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-AS1, DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1171611	NM_004415.4(DSP):c.102C>T (p.Gly34=)	DSP-AS1, DSP	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-AS1, DSP (G35A)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
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 3075155	NM_004415.4(DSP):c.107G>A (p.Gly36Asp)	DSP, DSP-AS1 (G36D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
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)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GBenign/Likely benign
Select item 2926396	NM_004415.4(DSP):c.117G>A (p.Arg39=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 923801	NM_004415.4(DSP):c.117G>T (p.Arg39Ser)	DSP, DSP-AS1 (R39S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 3073948	NM_004415.4(DSP):c.122A>G (p.Tyr41Cys)	DSP, DSP-AS1 (Y41C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 44855	NM_004415.4(DSP):c.126T>C (p.Tyr42=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 3070666	NM_004415.4(DSP):c.127T>C (p.Ser43Pro)	DSP, DSP-AS1 (S43P)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 3071137	NM_004415.4(DSP):c.128C>G (p.Ser43Cys)	DSP, DSP-AS1 (S43C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 923953	NM_004415.4(DSP):c.130C>T (p.Arg44Trp)	DSP, DSP-AS1 (R44W)	Single nucleotide variant (missense variant)	not provided +4 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)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 451932	NM_004415.4(DSP):c.137G>A (p.Gly46Asp)	DSP, DSP-AS1 (G46D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +10 more	GConflicting classifications of pathogenicity
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-AS1, DSP (T49I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GConflicting classifications of pathogenicity
Select item 519512	NM_004415.4(DSP):c.146C>G (p.Thr49Ser)	DSP, DSP-AS1 (T49S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
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 2927561	NM_004415.4(DSP):c.162C>G (p.Asp54Glu)	DSP, DSP-AS1 (D54E)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 925108	NM_004415.4(DSP):c.165C>T (p.Gly55=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign

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Items: 57