ClinVar for Gene (Select 1828) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352304	NM_001942.4(DSG1):c.1265G>A (p.Arg422Lys)	DSG1 (R422K)	Single nucleotide variant (missense variant)	DSG1-related disorder	GUncertain significance
Select item 3273850	NM_001942.4(DSG1):c.2821C>T (p.Pro941Ser)	DSG1, DSG1-AS1 (P941S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273849	NM_001942.4(DSG1):c.2004A>G (p.Ile668Met)	DSG1, DSG1-AS1 (I668M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273848	NM_001942.4(DSG1):c.826A>G (p.Ile276Val)	DSG1 (I276V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3273847	NM_001942.4(DSG1):c.2210G>C (p.Ser737Thr)	DSG1, DSG1-AS1 +1 more (S737T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3242792	NC_000018.9:g.(?_28898264)_(29126706_?)del	DSG1, DSG2 +2 more	Deletion	not provided	GPathogenic
Select item 3242756	NC_000018.9:g.(?_28647981)_(29178638_?)del	TTR, DSC1 +5 more	Deletion	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 3085945	NM_001942.4(DSG1):c.863T>A (p.Leu288His)	DSG1 (L288H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085944	NM_001942.4(DSG1):c.821A>T (p.Tyr274Phe)	DSG1 (Y274F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085942	NM_001942.4(DSG1):c.3079A>G (p.Ile1027Val)	DSG1, DSG1-AS1 (I1027V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085941	NM_001942.4(DSG1):c.2600G>C (p.Arg867Thr)	DSG1, DSG1-AS1 +1 more (R867T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085940	NM_001942.4(DSG1):c.2417C>T (p.Thr806Ile)	DSG1, DSG1-AS1 +1 more (T806I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085938	NM_001942.4(DSG1):c.2053A>G (p.Arg685Gly)	DSG1, DSG1-AS1 (R685G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064109	NM_001942.4(DSG1):c.788A>G (p.Asn263Ser)	DSG1 (N263S)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma i, striate, focal, or diffuse	GUncertain significance
Select item 3049198	NM_001942.4(DSG1):c.-8C>A	DSG1	Single nucleotide variant (5 prime UTR variant)	DSG1-related disorder	GLikely benign
Select item 3023324	NM_001942.4(DSG1):c.1252T>C (p.Ser418Pro)	DSG1 (S418P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020070	NM_001942.4(DSG1):c.1532C>T (p.Ser511Phe)	DSG1 (S511F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018577	NM_001942.4(DSG1):c.3054C>T (p.Ser1018=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018420	NM_001942.4(DSG1):c.50T>C (p.Val17Ala)	DSG1 (V17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015433	NM_001942.4(DSG1):c.3113G>A (p.Arg1038Gln)	DSG1, DSG1-AS1 (R1038Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014965	NM_001942.4(DSG1):c.1114A>G (p.Ile372Val)	DSG1 (I372V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014137	NM_001942.4(DSG1):c.1502C>T (p.Thr501Ile)	DSG1 (T501I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012893	NM_001942.4(DSG1):c.1659C>T (p.Leu553=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011771	NM_001942.4(DSG1):c.580A>T (p.Ile194Leu)	DSG1 (I194L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009783	NM_001942.4(DSG1):c.2353C>A (p.Leu785Ile)	DSG1, DSG1-AS1 +1 more (L785I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008839	NM_001942.4(DSG1):c.1225G>A (p.Ala409Thr)	DSG1 (A409T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008695	NM_001942.4(DSG1):c.383G>A (p.Arg128Gln)	DSG1 (R128Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006800	NM_001942.4(DSG1):c.2923G>T (p.Gly975Cys)	DSG1, DSG1-AS1 (G975C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006594	NM_001942.4(DSG1):c.370A>C (p.Ile124Leu)	DSG1 (I124L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005984	NM_001942.4(DSG1):c.1526G>T (p.Ser509Ile)	DSG1 (S509I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005917	NM_001942.4(DSG1):c.1265+17C>T	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005286	NM_001942.4(DSG1):c.2180G>A (p.Gly727Asp)	DSG1, DSG1-AS1 +1 more (G727D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3004778	NM_001942.4(DSG1):c.1049G>T (p.Gly350Val)	DSG1 (G350V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001964	NM_001942.4(DSG1):c.1592A>G (p.Glu531Gly)	DSG1 (E531G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994364	NM_001942.4(DSG1):c.1692C>A (p.Val564=)	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2994028	NM_001942.4(DSG1):c.2055A>G (p.Arg685=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2993991	NM_001942.4(DSG1):c.1265+20C>A	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993117	NM_001942.4(DSG1):c.448A>G (p.Ile150Val)	DSG1 (I150V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991453	NM_001942.4(DSG1):c.740A>G (p.Asp247Gly)	DSG1 (D247G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990767	NM_001942.4(DSG1):c.684+18A>G	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990580	NM_001942.4(DSG1):c.1942G>A (p.Gly648Arg)	DSG1, DSG1-AS1 (G648R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986622	NM_001942.4(DSG1):c.1314A>T (p.Arg438Ser)	DSG1 (R438S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986510	NM_001942.4(DSG1):c.1107A>G (p.Ala369=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985575	NM_001942.4(DSG1):c.752C>T (p.Ala251Val)	DSG1 (A251V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985098	NM_001942.4(DSG1):c.2711G>A (p.Ser904Asn)	DSG1, DSG1-AS1 (S904N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983507	NM_001942.4(DSG1):c.1093T>C (p.Tyr365His)	DSG1 (Y365H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979565	NM_001942.4(DSG1):c.2485C>G (p.Pro829Ala)	DSG1, DSG1-AS1 +1 more (P829A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978041	NM_001942.4(DSG1):c.668A>G (p.Asn223Ser)	DSG1 (N223S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977499	NM_001942.4(DSG1):c.2244G>T (p.Leu748Phe)	DSG1, DSG1-AS1 +1 more (L748F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2975623	NM_001942.4(DSG1):c.1968A>G (p.Leu656=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975527	NM_001942.4(DSG1):c.2900C>A (p.Thr967Asn)	DSG1, DSG1-AS1 (T967N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970514	NM_001942.4(DSG1):c.2622C>A (p.Gly874=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969969	NM_001942.4(DSG1):c.1266G>A (p.Arg422=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2969832	NM_001942.4(DSG1):c.1156C>T (p.Arg386Cys)	DSG1 (R386C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969616	NM_001942.4(DSG1):c.2211C>T (p.Ser737=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2969215	NM_001942.4(DSG1):c.2120A>G (p.Asp707Gly)	DSG1, DSG1-AS1 +1 more (D707G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2968602	NM_001942.4(DSG1):c.2009A>G (p.Gln670Arg)	DSG1, DSG1-AS1 (Q670R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967638	NM_001942.4(DSG1):c.2880_2881delinsAA (p.Val961Ile)	DSG1, DSG1-AS1 (V961I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2956859	NM_001942.4(DSG1):c.1733G>A (p.Arg578His)	DSG1, DSG1-AS1 (R578H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2955759	NM_001942.4(DSG1):c.1688-11T>C	DSG1, DSG1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2915519	NM_001942.4(DSG1):c.382C>T (p.Arg128Ter)	DSG1 (R128*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2914585	NM_001942.4(DSG1):c.2336G>C (p.Ser779Thr)	DSG1, DSG1-AS1 +1 more (S779T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911242	NM_001942.4(DSG1):c.2713C>G (p.Leu905Val)	DSG1, DSG1-AS1 (L905V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909436	NM_001942.4(DSG1):c.2760G>T (p.Val920=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904459	NM_001942.4(DSG1):c.104A>T (p.Lys35Ile)	DSG1 (K35I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903262	NM_001942.4(DSG1):c.2373C>T (p.Pro791=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900675	NM_001942.4(DSG1):c.659C>T (p.Thr220Met)	DSG1 (T220M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897216	NM_001942.4(DSG1):c.829G>A (p.Glu277Lys)	DSG1 (E277K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896646	NM_001942.4(DSG1):c.2285G>A (p.Ser762Asn)	DSG1, DSG1-AS1 +1 more (S762N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895243	NM_001942.4(DSG1):c.216+4G>A	DSG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2893991	NM_001942.4(DSG1):c.613G>T (p.Asp205Tyr)	DSG1 (D205Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893467	NM_001942.4(DSG1):c.2610C>A (p.Gly870=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893466	NM_001942.4(DSG1):c.1021G>A (p.Ala341Thr)	DSG1 (A341T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892569	NM_001942.4(DSG1):c.371T>C (p.Ile124Thr)	DSG1 (I124T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891334	NM_001942.4(DSG1):c.2170G>A (p.Glu724Lys)	DSG1, DSG1-AS1 +1 more (E724K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2888128	NM_001942.4(DSG1):c.475A>G (p.Met159Val)	DSG1 (M159V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886052	NM_001942.4(DSG1):c.1468G>A (p.Asp490Asn)	DSG1 (D490N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885222	NM_001942.4(DSG1):c.1652T>C (p.Ile551Thr)	DSG1 (I551T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2881129	NM_001942.4(DSG1):c.2614A>G (p.Ile872Val)	DSG1, DSG1-AS1 +1 more (I872V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880924	NM_001942.4(DSG1):c.1005+6G>T	DSG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2880909	NM_001942.4(DSG1):c.3042C>T (p.His1014=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878951	NM_001942.4(DSG1):c.1024A>G (p.Met342Val)	DSG1 (M342V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878410	NM_001942.4(DSG1):c.1160C>G (p.Pro387Arg)	DSG1 (P387R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877660	NM_001942.4(DSG1):c.685-5T>C	DSG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874683	NM_001942.4(DSG1):c.175C>T (p.Arg59Cys)	DSG1 (R59C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874089	NM_001942.4(DSG1):c.1580T>C (p.Val527Ala)	DSG1 (V527A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2870776	NM_001942.4(DSG1):c.1906G>C (p.Glu636Gln)	DSG1, DSG1-AS1 (E636Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869858	NM_001942.4(DSG1):c.1406A>G (p.Asp469Gly)	DSG1 (D469G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867553	NM_001942.4(DSG1):c.2536A>G (p.Thr846Ala)	DSG1, DSG1-AS1 +1 more (T846A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866694	NM_001942.4(DSG1):c.163G>T (p.Ala55Ser)	DSG1 (A55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866312	NM_001942.4(DSG1):c.2167A>G (p.Ile723Val)	DSG1, DSG1-AS1 +1 more (I723V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2863278	NM_001942.4(DSG1):c.2695A>G (p.Ile899Val)	DSG1, DSG1-AS1 (I899V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857482	NM_001942.4(DSG1):c.2224G>A (p.Asp742Asn)	LOC126862720, DSG1 +1 more (D742N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2856338	NM_001942.4(DSG1):c.250A>T (p.Thr84Ser)	DSG1 (T84S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854699	NM_001942.4(DSG1):c.693C>G (p.Gly231=)	DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852757	NM_001942.4(DSG1):c.1477_1478delinsGC (p.Asn493Ala)	DSG1 (N493A)	Indel (missense variant)	not provided	GUncertain significance
Select item 2852584	NM_001942.4(DSG1):c.2101-15C>G	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849915	NM_001942.4(DSG1):c.2643A>G (p.Leu881=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848925	NM_001942.4(DSG1):c.3071A>C (p.Asn1024Thr)	DSG1, DSG1-AS1 (N1024T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843855	NM_001942.4(DSG1):c.1490A>G (p.Asn497Ser)	DSG1 (N497S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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