Related gene-specific medical variations for Gene (Select 1832) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361448	NM_004415.4(DSP):c.4253A>T (p.Gln1418Leu)	DSP (Q1418L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359869	NM_004415.4(DSP):c.3300C>G (p.Cys1100Trp)	DSP (C1100W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246003	NC_000006.11:g.(?_7583166)_(7587903_?)del	DSP	Deletion	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 3246002	NC_000006.11:g.(?_7532151)_(7559633_?)del	DSP	Deletion	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 3224259	NM_004415.4(DSP):c.84C>T (p.Tyr28=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3024565	NM_004415.4(DSP):c.298C>T (p.Gln100Ter)	DSP (Q100*)	Single nucleotide variant (nonsense)	Lethal acantholytic epidermolysis bullosa	GPathogenic
Select item 2950290	NM_004415.4(DSP):c.170+19A>G	DSP, DSP-AS1	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2946646	NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)	DSP-AS1, DSP	Duplication (inframe_insertion)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2943308	NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)	DSP, DSP-AS1 (Y28*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2942232	NM_004415.4(DSP):c.93C>T (p.Thr31=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GBenign
Select item 2937432	NM_004415.4(DSP):c.170+10T>C	DSP, DSP-AS1	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2935615	NM_004415.4(DSP):c.125A>G (p.Tyr42Cys)	DSP, DSP-AS1 (Y42C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
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 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 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 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 2927152	NM_004415.4(DSP):c.110C>G (p.Thr37Ser)	DSP, DSP-AS1 (T37S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
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 2925877	NM_004415.4(DSP):c.170+14C>T	DSP, DSP-AS1	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	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 2775256	NM_004415.4(DSP):c.147C>G (p.Thr49=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	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 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 2775252	NM_004415.4(DSP):c.-7C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
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 2665016	NM_004415.4(DSP):c.170+2341A>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8	GUncertain significance
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
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 2587385	NM_004415.2:c.3564_3565insALU	DSP	Insertion	Cardiovascular phenotype	GLikely pathogenic
Select item 2584570	NM_004415.4(DSP):c.3667G>A (p.Glu1223Lys)	DSP (E1223K)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 8	GUncertain significance
Select item 2567534	NM_004415.4(DSP):c.137G>C (p.Gly46Ala)	DSP, DSP-AS1 (G46A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2502236	NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs)	DSP (E1988fs +2 more)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8	GLikely pathogenic
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 2453265	NM_004415.4(DSP):c.109A>G (p.Thr37Ala)	DSP, DSP-AS1 (T37A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 2441037	NM_004415.4(DSP):c.83A>G (p.Tyr28Cys)	DSP, DSP-AS1 (Y28C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441036	NM_004415.4(DSP):c.2519C>T (p.Ser840Phe)	DSP (S840F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428613	NM_004415.4(DSP):c.3084+8A>T	DSP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2412594	NM_004415.4(DSP):c.170+2T>G	DSP, DSP-AS1	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy	GLikely pathogenic
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 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 2131854	NM_004415.4(DSP):c.170+13C>T	DSP, DSP-AS1	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
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 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 2078024	NM_004415.4(DSP):c.85G>A (p.Glu29Lys)	DSP, DSP-AS1 (E29K)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2074629	NM_004415.4(DSP):c.133C>T (p.Arg45Cys)	DSP, DSP-AS1 (R45C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2055841	NM_004415.4(DSP):c.169T>C (p.Cys57Arg)	DSP, DSP-AS1 (C57R)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GUncertain significance
Select item 2028839	NM_004415.4(DSP):c.170+5dup	DSP, DSP-AS1	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +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 1975403	NM_004415.4(DSP):c.170+15G>A	DSP, DSP-AS1	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 1960670	NM_004415.4(DSP):c.170+12C>A	DSP, DSP-AS1	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 1952586	NM_004415.4(DSP):c.170+18G>A	DSP, DSP-AS1	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 1809749	NM_004415.4(DSP):c.3924_3925del (p.His1309fs)	DSP (H1309fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1784217	NM_004415.4(DSP):c.-2_-1delinsGCA	DSP, DSP-AS1	Indel (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 1778338	NM_004415.4(DSP):c.170+2T>C	DSP, DSP-AS1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1776099	NM_004415.4(DSP):c.159G>A (p.Ser53=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1751334	NM_004415.2:c.6060_6061insALU	DSP	Insertion	Cardiovascular phenotype	GPathogenic
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 +3 more	GConflicting classifications of pathogenicity
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 1701931	NM_004415.4(DSP):c.3959_3962del (p.Ile1320fs)	DSP (I1320fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 1683306	NM_004415.4(DSP):c.170+16G>A	DSP, DSP-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 1430156	NM_004415.4(DSP):c.170+2dup	DSP, DSP-AS1	Duplication (splice donor variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 1388757	NM_004415.4(DSP):c.94A>G (p.Ser32Gly)	DSP, DSP-AS1 (S32G)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 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 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 1332355	NM_004415.4(DSP):c.78G>C (p.Leu26=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1330487	NM_004415.4(DSP):c.6419G>A (p.Ser2140Asn)	DSP (S1541N +2 more)	Single nucleotide variant (missense variant)	not provided	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 1296491	NM_004415.4(DSP):c.-34C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1282902	NM_004415.4(DSP):c.598-266_598-265dup	DSP, LOC110121274	Duplication (intron variant)	not provided	GBenign
Select item 1280291	NM_004415.4(DSP):c.170+195del	DSP, DSP-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1230899	NM_004415.4(DSP):c.598-279G>T	DSP, LOC110121274	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207901	NM_004415.4(DSP):c.598-265dup	DSP, LOC110121274	Duplication (intron variant)	not provided	GLikely benign
Select item 1196422	NM_004415.4(DSP):c.598-212C>T	DSP, LOC110121274	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196295	NM_004415.4(DSP):c.598-280_598-279insTTTT	DSP, LOC110121274	Insertion (intron variant)	not provided	GLikely benign
Select item 1184591	NM_004415.4(DSP):c.2611_2614del (p.Asp871fs)	DSP (D871fs)	Microsatellite (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 1174837	NM_004415.4(DSP):c.118del (p.Met40fs)	DSP, DSP-AS1 (M40fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1172309	NM_004415.4(DSP):c.96C>T (p.Ser32=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GLikely benign

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