"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DSP"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 240

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357933	NM_004415.4(DSP):c.-157G>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Lethal acantholytic epidermolysis bullosa +5 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 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 199913	NM_004415.4(DSP):c.47G>C (p.Arg16Pro)	DSP, DSP-AS1 (R16P)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 534320	NM_004415.4(DSP):c.78G>T (p.Leu26=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +9 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 cardiomyopathy with wooly hair and keratoderma +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)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GBenign/Likely benign
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 1066406	NM_004415.4(DSP):c.170+1G>A	DSP, DSP-AS1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +7 more	GLikely pathogenic
Select item 949785	NM_004415.4(DSP):c.178G>A (p.Gly60Ser)	DSP (G60S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 44875	NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)	DSP (C81Y)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 163237	NM_004415.4(DSP):c.273+5G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +10 more	GConflicting classifications of pathogenicity
Select item 975011	NM_004415.4(DSP):c.308G>A (p.Arg103Gln)	DSP (R103Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GConflicting classifications of pathogenicity
Select item 910568	NM_004415.4(DSP):c.314G>A (p.Arg105Gln)	DSP (R105Q)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 576875	NM_004415.4(DSP):c.385C>T (p.Arg129Trp)	DSP (R129W)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 155786	NM_004415.4(DSP):c.449G>A (p.Arg150Gln)	DSP (R150Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GConflicting classifications of pathogenicity
Select item 546994	NM_004415.4(DSP):c.484C>G (p.Arg162Gly)	DSP (R162G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GConflicting classifications of pathogenicity
Select item 628319	NM_004415.4(DSP):c.485G>A (p.Arg162His)	DSP (R162H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GConflicting classifications of pathogenicity
Select item 199851	NM_004415.4(DSP):c.521G>T (p.Cys174Phe)	DSP (C174F)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 163239	NM_004415.4(DSP):c.522T>C (p.Cys174=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 860184	NM_004415.4(DSP):c.526A>G (p.Ser176Gly)	DSP (S176G)	Single nucleotide variant (missense variant)	Keratosis palmoplantaris striata 2 +5 more	GUncertain significance
Select item 927441	NM_004415.4(DSP):c.647A>C (p.Gln216Pro)	DSP (Q216P)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +7 more	GUncertain significance
Select item 569733	NM_004415.4(DSP):c.664C>T (p.Arg222Trp)	DSP (R222W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 840093	NM_004415.4(DSP):c.677A>G (p.Asn226Ser)	DSP (N226S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 918356	NM_004415.4(DSP):c.685G>A (p.Gly229Ser)	DSP (G229S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity
Select item 1443960	NM_004415.4(DSP):c.694C>T (p.Arg232Cys)	DSP (R232C)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +5 more	GConflicting classifications of pathogenicity
Select item 44946	NM_004415.4(DSP):c.699G>A (p.Trp233Ter)	DSP (W233*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +10 more	GPathogenic/Likely pathogenic
Select item 1444113	NM_004415.4(DSP):c.727C>T (p.Arg243Cys)	DSP (R243C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GUncertain significance
Select item 965204	NM_004415.4(DSP):c.740C>T (p.Ala247Val)	DSP (A247V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 699815	NM_004415.4(DSP):c.888C>T (p.Tyr296=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 1674356	NM_004415.4(DSP):c.939+19G>T	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GLikely benign
Select item 496252	NM_004415.4(DSP):c.946A>G (p.Met316Val)	DSP (M316V)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 534297	NM_004415.4(DSP):c.976C>T (p.Leu326Phe)	DSP (L326F)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GConflicting classifications of pathogenicity
Select item 451452	NM_004415.4(DSP):c.997A>G (p.Ser333Gly)	DSP (S333G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 922290	NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)	DSP (N339S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 546441	NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)	DSP (I347T)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 432647	NM_004415.4(DSP):c.1044+3A>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GUncertain significance
Select item 565457	NM_004415.4(DSP):c.1067C>T (p.Thr356Met)	DSP (T356M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity
Select item 199858	NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)	DSP (T356K)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GUncertain significance
Select item 246657	NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)	DSP (I368T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 925425	NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)	DSP (F379I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 421357	NM_004415.4(DSP):c.1136T>C (p.Phe379Ser)	DSP (F379S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 378907	NM_004415.4(DSP):c.1155G>A (p.Ala385=)	DSP	Single nucleotide variant (synonymous variant)	not specified +9 more	GLikely benign
Select item 626737	NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)	DSP (L421P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GConflicting classifications of pathogenicity
Select item 44857	NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)	DSP (R425Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1006139	NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)	DSP (K427E)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GConflicting classifications of pathogenicity
Select item 432554	NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)	DSP (K441N)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 629400	NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)	DSP (S442A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 519260	NM_004415.4(DSP):c.1331A>C (p.Lys444Thr)	DSP (K444T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 927141	NM_004415.4(DSP):c.1418A>G (p.Gln473Arg)	DSP (Q473R)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +6 more	GUncertain significance
Select item 759546	NM_004415.4(DSP):c.1443G>A (p.Glu481=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GLikely benign
Select item 44860	NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)	DSP (Y494F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 1500028	NM_004415.4(DSP):c.1483G>T (p.Val495Leu)	DSP (V495L)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GUncertain significance
Select item 422139	NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe)	DSP (V495F)	Indel (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 391543	NM_004415.4(DSP):c.1545G>A (p.Pro515=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GLikely benign
Select item 582903	NM_004415.4(DSP):c.1556C>T (p.Ala519Val)	DSP (A519V)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +6 more	GUncertain significance
Select item 577872	NM_004415.4(DSP):c.1564C>G (p.Leu522Val)	DSP (L522V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 161226	NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	DSP (A566T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +11 more	GConflicting classifications of pathogenicity
Select item 642208	NM_004415.4(DSP):c.1730T>C (p.Met577Thr)	DSP (M577T)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 659134	NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)	DSP (R606W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 357941	NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)	DSP (D614N)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +7 more	GConflicting classifications of pathogenicity
Select item 379030	NM_004415.4(DSP):c.1860G>A (p.Gln620=)	DSP	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 519064	NM_004415.4(DSP):c.1865T>G (p.Leu622Arg)	DSP (L622R)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +6 more	GUncertain significance
Select item 655661	NM_004415.4(DSP):c.1960G>A (p.Val654Ile)	DSP (V654I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GConflicting classifications of pathogenicity
Select item 1598473	NM_004415.4(DSP):c.1983T>C (p.Asn661=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 838465	NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)	DSP (R677K)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +7 more	GConflicting classifications of pathogenicity
Select item 574459	NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)	DSP (P692L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 577908	NM_004415.4(DSP):c.2081C>T (p.Ala694Val)	DSP (A694V)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 516732	NM_004415.4(DSP):c.2091A>T (p.Gly697=)	DSP	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 264019	NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)	DSP (E708K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +9 more	GConflicting classifications of pathogenicity
Select item 640770	NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)	DSP (L709F)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 1171598	NM_004415.4(DSP):c.2153C>T (p.Ala718Val)	DSP (A718V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 923573	NM_004415.4(DSP):c.2161G>A (p.Glu721Lys)	DSP (E721K)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GUncertain significance
Select item 655888	NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)	DSP (D782G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 626487	NM_004415.4(DSP):c.2423G>A (p.Arg808His)	DSP (R808H)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 222575	NM_004415.4(DSP):c.2432T>C (p.Leu811Pro)	DSP (L811P)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GUncertain significance
Select item 377809	NM_004415.4(DSP):c.2436+16A>G	DSP	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 919941	NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)	DSP (I814T)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 199869	NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)	DSP (S823L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 199870	NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)	DSP (L851Q)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +9 more	GConflicting classifications of pathogenicity
Select item 1420375	NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)	DSP (F856L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GConflicting classifications of pathogenicity
Select item 199872	NM_004415.4(DSP):c.2622C>G (p.Ile874Met)	DSP (I874M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1332109	NM_004415.4(DSP):c.2623G>A (p.Asp875Asn)	DSP (D875N)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 137169	NM_004415.4(DSP):c.2630+18C>T	DSP	Single nucleotide variant (intron variant)	Lethal acantholytic epidermolysis bullosa +7 more	GBenign/Likely benign
Select item 919252	NM_004415.4(DSP):c.2631-13dup	DSP	Duplication (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 163257	NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)	DSP (Y895C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +9 more	GConflicting classifications of pathogenicity
Select item 574582	NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)	DSP (A897P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 357945	NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)	DSP (R907C)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 265104	NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)	DSP (L933F)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 188463	NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)	DSP (R941Q)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 163258	NM_004415.4(DSP):c.2850T>G (p.Ile950Met)	DSP (I950M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 392069	NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)	DSP (L953P)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 1348456	NM_004415.4(DSP):c.2872A>G (p.Ile958Val)	DSP (I958V)	Single nucleotide variant (missense variant)	Keratosis palmoplantaris striata 2 +5 more	GConflicting classifications of pathogenicity
Select item 920798	NM_004415.4(DSP):c.2906C>T (p.Thr969Ile)	DSP (T969I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 534315	NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)	DSP (K981E)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 1041857	NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)	DSP (S987T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 1339298	NM_004415.4(DSP):c.2962C>T (p.Pro988Ser)	DSP (P988S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GUncertain significance
Select item 581025	NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)	DSP (S989F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GUncertain significance
Select item 1171311	NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)	DSP (A1001S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GUncertain significance
Select item 246660	NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)	DSP (R1002W)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3