Related gene-specific medical variations for Gene (Select 1828) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3018577	NM_001942.4(DSG1):c.3054C>T (p.Ser1018=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2880909	NM_001942.4(DSG1):c.3042C>T (p.His1014=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 2838977	NM_001942.4(DSG1):c.1857T>C (p.Asp619=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835441	NM_001942.4(DSG1):c.3092C>G (p.Ser1031Cys)	DSG1, DSG1-AS1 (S1031C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828290	NM_001942.4(DSG1):c.1848A>G (p.Ile616Met)	DSG1, DSG1-AS1 (I616M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824396	NM_001942.4(DSG1):c.2253G>A (p.Leu751=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2823905	NM_001942.4(DSG1):c.1772A>G (p.Asp591Gly)	DSG1, DSG1-AS1 (D591G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2817317	NM_001942.4(DSG1):c.2311C>G (p.Leu771Val)	DSG1, DSG1-AS1 +1 more (L771V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817137	NM_001942.4(DSG1):c.2052T>C (p.Cys684=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2815917	NM_001942.4(DSG1):c.2747A>G (p.Glu916Gly)	DSG1, DSG1-AS1 (E916G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815170	NM_001942.4(DSG1):c.2635G>A (p.Gly879Arg)	DSG1, DSG1-AS1 +1 more (G879R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810980	NM_001942.4(DSG1):c.2606T>C (p.Val869Ala)	DSG1, DSG1-AS1 +1 more (V869A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810177	NM_001942.4(DSG1):c.2733C>T (p.Ile911=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809955	NM_001942.4(DSG1):c.2233G>A (p.Asp745Asn)	DSG1, DSG1-AS1 +1 more (D745N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2809426	NM_001942.4(DSG1):c.1952T>C (p.Met651Thr)	DSG1, DSG1-AS1 (M651T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809004	NM_001942.4(DSG1):c.2342A>G (p.Glu781Gly)	DSG1, DSG1-AS1 +1 more (E781G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795856	NM_001942.4(DSG1):c.2725C>T (p.Leu909=)	DSG1-AS1, DSG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792393	NM_001942.4(DSG1):c.2788A>G (p.Thr930Ala)	DSG1, DSG1-AS1 (T930A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791738	NM_001942.4(DSG1):c.2281A>T (p.Ile761Phe)	DSG1, DSG1-AS1 +1 more (I761F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790011	NM_001942.4(DSG1):c.3035T>C (p.Ile1012Thr)	DSG1, DSG1-AS1 (I1012T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789720	NM_001942.4(DSG1):c.2910C>G (p.Ile970Met)	DSG1, DSG1-AS1 (I970M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789719	NM_001942.4(DSG1):c.2810T>G (p.Leu937Arg)	DSG1, DSG1-AS1 (L937R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786577	NM_001942.4(DSG1):c.3033C>T (p.Ser1011=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786164	NM_001942.4(DSG1):c.2771A>C (p.Glu924Ala)	DSG1, DSG1-AS1 (E924A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782055	NM_001942.4(DSG1):c.1895T>G (p.Val632Gly)	DSG1, DSG1-AS1 (V632G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781078	NM_001942.4(DSG1):c.2858A>G (p.Glu953Gly)	DSG1, DSG1-AS1 (E953G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770627	NM_001942.4(DSG1):c.2744G>C (p.Arg915Thr)	DSG1, DSG1-AS1 (R915T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763663	NM_001942.4(DSG1):c.3116T>G (p.Ile1039Ser)	DSG1, DSG1-AS1 (I1039S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763138	NM_001942.4(DSG1):c.2880C>G (p.Gly960=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759947	NM_001942.4(DSG1):c.2862G>A (p.Arg954=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740310	NM_001942.4(DSG1):c.2072T>G (p.Met691Arg)	DSG1, DSG1-AS1 (M691R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715987	NM_001942.4(DSG1):c.3087C>T (p.Ser1029=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713703	NM_001942.4(DSG1):c.2537C>G (p.Thr846Ser)	DSG1, DSG1-AS1 +1 more (T846S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711815	NM_001942.4(DSG1):c.1977A>T (p.Gly659=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2648632	NM_001942.4(DSG1):c.2758G>A (p.Val920Met)	DSG1, DSG1-AS1 (V920M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648631	NM_001942.4(DSG1):c.2514C>A (p.Thr838=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648630	NM_001942.4(DSG1):c.2469T>C (p.Pro823=)	DSG1, DSG1-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648629	NM_001942.4(DSG1):c.2435G>A (p.Ser812Asn)	DSG1, DSG1-AS1 +1 more (S812N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628438	NM_001942.4(DSG1):c.2041del (p.Ser680_Met681insTer)	DSG1, DSG1-AS1	Deletion (nonsense)	DSG1-related disorder	GLikely pathogenic
Select item 2621707	NM_001942.4(DSG1):c.2227C>A (p.Leu743Met)	DSG1, DSG1-AS1 +1 more (L743M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620067	NM_001942.4(DSG1):c.3134T>C (p.Val1045Ala)	DSG1, DSG1-AS1 (V1045A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2543789	NM_001942.4(DSG1):c.1765T>C (p.Cys589Arg)	DSG1, DSG1-AS1 (C589R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540552	NM_001942.4(DSG1):c.1849C>T (p.Pro617Ser)	DSG1, DSG1-AS1 (P617S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539161	NM_001942.4(DSG1):c.2648T>C (p.Met883Thr)	DSG1, DSG1-AS1 +1 more (M883T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536622	NM_001942.4(DSG1):c.1875A>T (p.Glu625Asp)	DSG1, DSG1-AS1 (E625D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474940	NM_001942.4(DSG1):c.2612C>T (p.Pro871Leu)	DSG1, DSG1-AS1 +1 more (P871L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441034	NM_001942.4(DSG1):c.1862C>G (p.Ala621Gly)	DSG1, DSG1-AS1 (A621G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413767	NM_001942.4(DSG1):c.2850T>C (p.Ile950=)	DSG1, DSG1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2339993	NM_001942.4(DSG1):c.2207G>T (p.Cys736Phe)	DSG1, DSG1-AS1 +1 more (C736F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2290233	NM_001942.4(DSG1):c.1730C>T (p.Pro577Leu)	DSG1, DSG1-AS1 (P577L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2225500	NM_001942.4(DSG1):c.2381G>T (p.Ser794Ile)	DSG1, DSG1-AS1 +1 more (S794I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2191606	NM_001942.4(DSG1):c.2133_2134delinsTT (p.Arg712Cys)	DSG1, DSG1-AS1 +1 more (R712C)	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2191140	NM_001942.4(DSG1):c.2218G>A (p.Gly740Arg)	DSG1, DSG1-AS1 +1 more (G740R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2190417	NM_001942.4(DSG1):c.2627A>T (p.Asp876Val)	DSG1, DSG1-AS1 +1 more (D876V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185224	NM_001942.4(DSG1):c.2660G>A (p.Arg887Gln)	DSG1, DSG1-AS1 (R887Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2179982	NM_001942.4(DSG1):c.1777G>A (p.Ala593Thr)	DSG1, DSG1-AS1 (A593T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2177650	NM_001942.4(DSG1):c.3106C>T (p.Arg1036Ter)	DSG1, DSG1-AS1 (R1036*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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