ClinVar for Gene (Select 1829) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349865	NM_001943.5(DSG2):c.326G>A (p.Gly109Glu)	DSG2 (G109E)	Single nucleotide variant (missense variant)	DSG2-related disorder	GUncertain significance
Select item 3343848	NM_001943.5(DSG2):c.375dup (p.Leu126fs)	DSG2 (L126fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3340313	NM_001943.5(DSG2):c.852_855del (p.Asn284fs)	DSG2 (N284fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337056	NM_001943.5(DSG2):c.1651+1G>A	DSG2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3337055	NM_001943.5(DSG2):c.850A>G (p.Asn284Asp)	DSG2 (N284D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336869	NM_001943.5(DSG2):c.854A>C (p.Gln285Pro)	DSG2 (Q285P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3273862	NM_001943.5(DSG2):c.2989G>C (p.Gly997Arg)	DSG2, DSG2-AS1 (G997R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273861	NM_001943.5(DSG2):c.2380G>A (p.Asp794Asn)	DSG2, DSG2-AS1 (D794N)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3273859	NM_001943.5(DSG2):c.2983C>T (p.His995Tyr)	DSG2, DSG2-AS1 (H995Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273858	NM_001943.5(DSG2):c.1052G>A (p.Ser351Asn)	DSG2 (S351N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273857	NM_001943.5(DSG2):c.3235G>C (p.Ala1079Pro)	DSG2, DSG2-AS1 (A1079P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273855	NM_001943.5(DSG2):c.2916T>C (p.Ser972=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3273854	NM_001943.5(DSG2):c.994G>C (p.Gly332Arg)	DSG2 (G332R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3273853	NM_001943.5(DSG2):c.2425G>A (p.Ala809Thr)	DSG2, DSG2-AS1 (A809T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3256533	NM_001943.5(DSG2):c.710T>A (p.Leu237Ter)	DSG2 (L237*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 3242792	NC_000018.9:g.(?_28898264)_(29126706_?)del	DSG1, DSG2 +2 more	Deletion	not provided	GPathogenic
Select item 3242760	NC_000018.9:g.(?_29078215)_(29178638_?)del	DSG2, TTR	Deletion	Amyloidosis, hereditary systemic 1	GUncertain significance
Select item 3242756	NC_000018.9:g.(?_28647981)_(29178638_?)del	TTR, DSC1 +5 more	Deletion	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 3242754	NC_000018.9:g.(?_29121136)_(29178638_?)dup	DSG2, TTR	Duplication	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3242753	NC_000018.9:g.(?_29110940)_(29118951_?)del	DSG2	Deletion	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3242752	NC_000018.9:g.(?_29078205)_(29102222_?)del	DSG2	Deletion	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3242751	NC_000018.9:g.(?_29078215)_(29126706_?)del	DSG2	Deletion	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 3236598	NM_001943.5(DSG2):c.3016C>T (p.Gln1006Ter)	DSG2, DSG2-AS1 (Q1006*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 3234096	NM_001943.5(DSG2):c.2300_2304del (p.Leu767fs)	DSG2, DSG2-AS1 (L767fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 3221946	NM_001943.5(DSG2):c.730G>A (p.Gly244Ser)	DSG2 (G244S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221945	NM_001943.5(DSG2):c.557C>T (p.Ala186Val)	DSG2 (A186V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221944	NM_001943.5(DSG2):c.3271G>A (p.Glu1091Lys)	DSG2, DSG2-AS1 (E1091K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221943	NM_001943.5(DSG2):c.3174A>C (p.Gln1058His)	DSG2, DSG2-AS1 (Q1058H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221942	NM_001943.5(DSG2):c.2322T>C (p.Asn774=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3221941	NM_001943.5(DSG2):c.22G>C (p.Ala8Pro)	DSG2, LOC130062340 (A8P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221940	NM_001943.5(DSG2):c.2105C>G (p.Ala702Gly)	DSG2, DSG2-AS1 (A702G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221939	NM_001943.5(DSG2):c.2036G>T (p.Gly679Val)	DSG2, DSG2-AS1 (G679V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3221938	NM_001943.5(DSG2):c.1974T>C (p.Asn658=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3221937	NM_001943.5(DSG2):c.1782G>C (p.Leu594=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3221936	NM_001943.5(DSG2):c.1724A>C (p.Asn575Thr)	DSG2 (N575T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221935	NM_001943.5(DSG2):c.1370C>G (p.Ser457Cys)	DSG2 (S457C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221934	NM_001943.5(DSG2):c.1189G>A (p.Val397Ile)	DSG2 (V397I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3221933	NM_001943.5(DSG2):c.1042C>G (p.Leu348Val)	DSG2 (L348V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075479	NM_001943.5(DSG2):c.249C>T (p.Leu83=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3075436	NM_001943.5(DSG2):c.820A>G (p.Asn274Asp)	DSG2 (N274D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075425	NM_001943.5(DSG2):c.-5del	DSG2, LOC130062340	Deletion (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075420	NM_001943.5(DSG2):c.1095G>A (p.Arg365=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3075287	NM_001943.5(DSG2):c.3065T>C (p.Phe1022Ser)	DSG2, DSG2-AS1 (F1022S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075217	NM_001943.5(DSG2):c.1990C>G (p.Pro664Ala)	DSG2 (P664A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075213	NM_001943.5(DSG2):c.2477T>C (p.Leu826Ser)	DSG2, DSG2-AS1 (L826S)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075199	NM_001943.5(DSG2):c.863dup (p.Glu289fs)	DSG2 (E289fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075198	NM_001943.5(DSG2):c.64A>G (p.Ser22Gly)	DSG2 (S22G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075192	NM_001943.5(DSG2):c.1657A>G (p.Ser553Gly)	DSG2 (S553G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075178	NM_001943.5(DSG2):c.3138G>A (p.Val1046=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3075174	NM_001943.5(DSG2):c.1512_1513del (p.Gln504fs)	DSG2 (Q504fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075173	NM_001943.5(DSG2):c.1513A>T (p.Thr505Ser)	DSG2 (T505S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075167	NM_001943.5(DSG2):c.2799G>A (p.Val933=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3075035	NM_001943.5(DSG2):c.82-13dup	DSG2	Duplication (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3075027	NM_001943.5(DSG2):c.1879+1G>T	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074984	NM_001943.5(DSG2):c.2505A>T (p.Thr835=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074926	NM_001943.5(DSG2):c.2839C>T (p.Pro947Ser)	DSG2, DSG2-AS1 (P947S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074893	NM_001943.5(DSG2):c.2996C>G (p.Ser999Trp)	DSG2, DSG2-AS1 (S999W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074866	NM_001943.5(DSG2):c.2573C>T (p.Ala858Val)	DSG2, DSG2-AS1 (A858V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074704	NM_001943.5(DSG2):c.1212A>G (p.Ser404=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074678	NM_001943.5(DSG2):c.410A>T (p.Asn137Ile)	DSG2 (N137I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074660	NM_001943.5(DSG2):c.2119G>A (p.Gly707Arg)	DSG2, DSG2-AS1 (G707R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074655	NM_001943.5(DSG2):c.617C>A (p.Ala206Asp)	DSG2 (A206D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074644	NM_001943.5(DSG2):c.2666C>A (p.Pro889Gln)	DSG2-AS1, DSG2 (P889Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074549	NM_001943.5(DSG2):c.1762C>T (p.Leu588Phe)	DSG2 (L588F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074524	NM_001943.5(DSG2):c.1948A>T (p.Thr650Ser)	DSG2 (T650S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074507	NM_001943.5(DSG2):c.2101T>A (p.Ser701Thr)	DSG2, DSG2-AS1 (S701T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074361	NM_001943.5(DSG2):c.3006G>T (p.Leu1002=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074320	NM_001943.5(DSG2):c.1702A>C (p.Ile568Leu)	DSG2 (I568L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074205	NM_001943.5(DSG2):c.570T>C (p.Asn190=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074188	NM_001943.5(DSG2):c.253dup (p.Ile85fs)	DSG2 (I85fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074080	NM_001943.5(DSG2):c.13C>T (p.Pro5Ser)	DSG2, LOC130062340 (P5S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074023	NM_001943.5(DSG2):c.3151_3152dup (p.Leu1051_Ala1052insTer)	DSG2, DSG2-AS1	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073889	NM_001943.5(DSG2):c.943G>C (p.Gly315Arg)	DSG2 (G315R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 3073846	NM_001943.5(DSG2):c.2981C>T (p.Pro994Leu)	DSG2, DSG2-AS1 (P994L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073806	NM_001943.5(DSG2):c.53T>G (p.Phe18Cys)	DSG2 (F18C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073750	NM_001943.5(DSG2):c.2851G>C (p.Val951Leu)	DSG2, DSG2-AS1 (V951L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073710	NM_001943.5(DSG2):c.2239A>C (p.Thr747Pro)	DSG2, DSG2-AS1 (T747P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073601	NM_001943.5(DSG2):c.188A>G (p.Asp63Gly)	DSG2 (D63G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073598	NM_001943.5(DSG2):c.1133A>G (p.Lys378Arg)	DSG2 (K378R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073534	NM_001943.5(DSG2):c.1887A>G (p.Pro629=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073532	NM_001943.5(DSG2):c.1879+5G>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073425	NM_001943.5(DSG2):c.2248G>A (p.Ala750Thr)	DSG2, DSG2-AS1 (A750T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073406	NM_001943.5(DSG2):c.1019T>G (p.Val340Gly)	DSG2 (V340G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073395	NM_001943.5(DSG2):c.1494A>G (p.Thr498=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073364	NM_001943.5(DSG2):c.2751G>C (p.Ala917=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073359	NM_001943.5(DSG2):c.1595C>G (p.Ser532Cys)	DSG2 (S532C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073306	NM_001943.5(DSG2):c.1312A>C (p.Ile438Leu)	DSG2 (I438L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073238	NM_001943.5(DSG2):c.892G>T (p.Ala298Ser)	DSG2 (A298S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073237	NM_001943.5(DSG2):c.893C>T (p.Ala298Val)	DSG2 (A298V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073190	NM_001943.5(DSG2):c.82-12C>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073103	NM_001943.5(DSG2):c.2193G>C (p.Gln731His)	DSG2, DSG2-AS1 (Q731H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073070	NM_001943.5(DSG2):c.1592T>C (p.Phe531Ser)	DSG2 (F531S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073069	NM_001943.5(DSG2):c.62G>A (p.Gly21Glu)	DSG2 (G21E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073017	NM_001943.5(DSG2):c.3303C>T (p.Thr1101=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3072912	NM_001943.5(DSG2):c.2367T>G (p.Asn789Lys)	DSG2, DSG2-AS1 (N789K)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072908	NM_001943.5(DSG2):c.347T>C (p.Ile116Thr)	DSG2 (I116T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072695	NM_001943.5(DSG2):c.285A>G (p.Thr95=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3072680	NM_001943.5(DSG2):c.3315C>G (p.Thr1105=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3072668	NM_001943.5(DSG2):c.1033A>G (p.Met345Val)	DSG2 (M345V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072623	NM_001943.5(DSG2):c.216+2T>C	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance

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