ClinVar for Gene (Select 147409) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 284

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350027	NM_177986.5(DSG4):c.2749T>C (p.Cys917Arg)	DSG1-AS1, DSG4 (C917R +1 more)	Single nucleotide variant (missense variant)	DSG4-related disorder	GUncertain significance
Select item 3273874	NM_177986.5(DSG4):c.1822A>G (p.Ile608Val)	DSG1-AS1, DSG4 (I608V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3273873	NM_177986.5(DSG4):c.2255C>A (p.Ala752Asp)	DSG1-AS1, DSG4 (A771D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273872	NM_177986.5(DSG4):c.2120A>G (p.Asp707Gly)	DSG1-AS1, DSG4 (D707G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273871	NM_177986.5(DSG4):c.1406T>C (p.Leu469Pro)	DSG1-AS1, DSG4 (L469P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273870	NM_177986.5(DSG4):c.2205C>G (p.Asn735Lys)	DSG1-AS1, DSG4 (N754K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273869	NM_177986.5(DSG4):c.2690C>A (p.Ser897Tyr)	DSG1-AS1, DSG4 (S897Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273868	NM_177986.5(DSG4):c.2973G>A (p.Met991Ile)	DSG1-AS1, DSG4 (M1010I +1 more)	Single nucleotide variant (missense variant)	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 3242087	NM_177986.5(DSG4):c.386_400del (p.Ala129_Arg133del)	DSG1-AS1, DSG4	Deletion (inframe_deletion)	Hypotrichosis 6	GUncertain significance
Select item 3085977	NM_177986.5(DSG4):c.581T>C (p.Ile194Thr)	DSG1-AS1, DSG4 (I194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085976	NM_177986.5(DSG4):c.49G>A (p.Val17Met)	DSG1-AS1, DSG4 (V17M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085975	NM_177986.5(DSG4):c.497T>C (p.Ile166Thr)	DSG1-AS1, DSG4 (I166T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085974	NM_177986.5(DSG4):c.3105A>G (p.Ile1035Met)	DSG1-AS1, DSG4 (I1035M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085973	NM_177986.5(DSG4):c.2815G>A (p.Val939Ile)	DSG1-AS1, DSG4 (V939I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085972	NM_177986.5(DSG4):c.2698G>A (p.Val900Met)	DSG1-AS1, DSG4 (V900M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3085971	NM_177986.5(DSG4):c.268G>A (p.Val90Ile)	DSG1-AS1, DSG4 (V90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085969	NM_177986.5(DSG4):c.2638T>A (p.Ser880Thr)	DSG1-AS1, DSG4 (S899T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085968	NM_177986.5(DSG4):c.2428G>A (p.Gly810Arg)	DSG1-AS1, DSG4 (G810R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085967	NM_177986.5(DSG4):c.2356A>G (p.Lys786Glu)	DSG1-AS1, DSG4 (K786E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085966	NM_177986.5(DSG4):c.2257T>G (p.Ser753Ala)	DSG1-AS1, DSG4 (S772A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3085965	NM_177986.5(DSG4):c.2243G>A (p.Gly748Glu)	DSG1-AS1, DSG4 (G767E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085964	NM_177986.5(DSG4):c.2017G>A (p.Gly673Ser)	DSG1-AS1, DSG4 (G673S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085963	NM_177986.5(DSG4):c.1994C>T (p.Thr665Ile)	DSG1-AS1, DSG4 (T665I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085962	NM_177986.5(DSG4):c.1946T>C (p.Leu649Ser)	DSG1-AS1, DSG4 (L649S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085961	NM_177986.5(DSG4):c.1412T>C (p.Ile471Thr)	DSG1-AS1, DSG4 (I471T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063546	GRCh37/hg19 18q12.1(chr18:28974594-29051649)x3	DSG3, DSG4	Copy number gain	not specified	GUncertain significance
Select item 3057986	NM_177986.5(DSG4):c.216+7G>A	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	DSG4-related disorder	GLikely benign
Select item 3048956	NM_177986.5(DSG4):c.1246T>C (p.Leu416=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder	GLikely benign
Select item 3045681	NM_177986.5(DSG4):c.678C>T (p.Asp226=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder	GLikely benign
Select item 3044897	NM_177986.5(DSG4):c.2138-48C>T	DSG1-AS1, DSG4 (A716V)	Single nucleotide variant (missense variant +1 more)	DSG4-related disorder	GLikely benign
Select item 3039571	NM_177986.5(DSG4):c.1224T>A (p.Leu408=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	DSG4-related disorder	GLikely benign
Select item 3036597	NM_177986.5(DSG4):c.517+8G>A	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	DSG4-related disorder	GLikely benign
Select item 3036078	NM_177986.5(DSG4):c.2355+8C>T	DSG1-AS1, DSG4	Single nucleotide variant (intron variant)	DSG4-related disorder	GLikely benign
Select item 2906178	NM_177986.5(DSG4):c.2997A>T (p.Pro999=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889202	NM_177986.5(DSG4):c.2733C>T (p.Tyr911=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882104	NM_177986.5(DSG4):c.2190G>C (p.Ser730=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872512	NM_177986.5(DSG4):c.1836G>A (p.Thr612=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813708	NM_177986.5(DSG4):c.1375_1376insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTCAAAATATA (p.Ile459fs)	DSG1-AS1, DSG4 (I459fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2776530	NM_177986.5(DSG4):c.1830T>A (p.Gly610=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2615421	NM_177986.5(DSG4):c.2621A>G (p.Asn874Ser)	DSG1-AS1, DSG4 (N893S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614057	NM_177986.5(DSG4):c.1356T>G (p.Phe452Leu)	DSG1-AS1, DSG4 (F452L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606857	NM_177986.5(DSG4):c.1142A>G (p.Glu381Gly)	DSG1-AS1, DSG4 (E381G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599714	NM_177986.5(DSG4):c.884T>C (p.Leu295Pro)	DSG1-AS1, DSG4 (L295P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555818	NM_177986.5(DSG4):c.1114G>A (p.Val372Met)	DSG1-AS1, DSG4 (V372M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541437	NM_177986.5(DSG4):c.1079C>G (p.Ser360Cys)	DSG1-AS1, DSG4 (S360C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537085	NM_177986.5(DSG4):c.347A>G (p.Asp116Gly)	DSG1-AS1, DSG4 (D116G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536733	NM_177986.5(DSG4):c.2143T>G (p.Tyr715Asp)	DSG1-AS1, DSG4 (Y715D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527210	NM_177986.5(DSG4):c.3061T>A (p.Ser1021Thr)	DSG1-AS1, DSG4 (S1040T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523847	NM_177986.5(DSG4):c.208A>G (p.Ile70Val)	DSG1-AS1, DSG4 (I70V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520466	NM_177986.5(DSG4):c.2707G>A (p.Gly903Arg)	DSG1-AS1, DSG4 (G903R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502918	NM_177986.5(DSG4):c.126_129del (p.Thr43fs)	DSG1-AS1, DSG4 (T43fs)	Deletion (frameshift variant)	Hypotrichosis 6	GPathogenic
Select item 2502917	NM_177986.5(DSG4):c.968A>G (p.Asp323Gly)	DSG1-AS1, DSG4 (D323G)	Single nucleotide variant (missense variant)	Hypotrichosis 6	GPathogenic
Select item 2487724	NM_177986.5(DSG4):c.2030T>C (p.Val677Ala)	DSG1-AS1, DSG4 (V677A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476367	NM_177986.5(DSG4):c.625T>C (p.Phe209Leu)	DSG1-AS1, DSG4 (F209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473470	NM_177986.5(DSG4):c.2809G>A (p.Glu937Lys)	DSG1-AS1, DSG4 (E956K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463992	NM_177986.5(DSG4):c.2846A>C (p.Asn949Thr)	DSG1-AS1, DSG4 (N949T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462552	NM_177986.5(DSG4):c.3016A>G (p.Met1006Val)	DSG1-AS1, DSG4 (M1006V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460279	NM_177986.5(DSG4):c.1145G>C (p.Gly382Ala)	DSG1-AS1, DSG4 (G382A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424326	NC_000018.9:g.(?_28647981)_(29648347_?)dup	B4GALT6, DSC1 +9 more	Duplication	not provided	GUncertain significance
Select item 2420482	NM_177986.5(DSG4):c.216A>G (p.Lys72=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2418503	NM_177986.5(DSG4):c.314G>A (p.Arg105His)	DSG1-AS1, DSG4 (R105H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405813	NM_177986.5(DSG4):c.1118G>A (p.Arg373Lys)	DSG1-AS1, DSG4 (R373K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400701	NM_177986.5(DSG4):c.100A>G (p.Ile34Val)	DSG1-AS1, DSG4 (I34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398310	NM_177986.5(DSG4):c.935G>A (p.Gly312Glu)	DSG1-AS1, DSG4 (G312E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398309	NM_177986.5(DSG4):c.202A>G (p.Asn68Asp)	DSG1-AS1, DSG4 (N68D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394940	NM_177986.5(DSG4):c.18C>A (p.Phe6Leu)	DSG1-AS1, DSG4 (F6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388199	NM_177986.5(DSG4):c.1255G>A (p.Gly419Arg)	DSG1-AS1, DSG4 (G419R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378550	NM_177986.5(DSG4):c.2359G>A (p.Ala787Thr)	DSG1-AS1, DSG4 (A806T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372497	NM_177986.5(DSG4):c.1028C>T (p.Pro343Leu)	DSG1-AS1, DSG4 (P343L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362122	NM_177986.5(DSG4):c.377A>G (p.Tyr126Cys)	DSG1-AS1, DSG4 (Y126C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354267	NM_177986.5(DSG4):c.1801G>A (p.Ala601Thr)	DSG1-AS1, DSG4 (A601T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2344805	NM_177986.5(DSG4):c.1025C>T (p.Ala342Val)	DSG1-AS1, DSG4 (A342V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324801	NM_177986.5(DSG4):c.2557G>A (p.Glu853Lys)	DSG1-AS1, DSG4 (E872K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323342	NM_177986.5(DSG4):c.2684C>T (p.Ala895Val)	DSG1-AS1, DSG4 (A895V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298552	NM_177986.5(DSG4):c.1289G>A (p.Gly430Glu)	DSG1-AS1, DSG4 (G430E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295390	NM_177986.5(DSG4):c.2387G>A (p.Gly796Asp)	DSG1-AS1, DSG4 (G815D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286922	NM_177986.5(DSG4):c.2680A>G (p.Met894Val)	DSG1-AS1, DSG4 (M894V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2277693	NM_177986.5(DSG4):c.1101G>A (p.Met367Ile)	DSG1-AS1, DSG4 (M367I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270905	NM_177986.5(DSG4):c.2977G>A (p.Gly993Ser)	DSG1-AS1, DSG4 (G1012S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269174	NM_177986.5(DSG4):c.623T>C (p.Met208Thr)	DSG1-AS1, DSG4 (M208T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2261715	NM_177986.5(DSG4):c.946A>G (p.Asn316Asp)	DSG1-AS1, DSG4 (N316D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254067	NM_177986.5(DSG4):c.1375A>C (p.Ile459Leu)	DSG1-AS1, DSG4 (I459L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251924	NM_177986.5(DSG4):c.2995C>G (p.Pro999Ala)	DSG1-AS1, DSG4 (P999A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243848	NM_177986.5(DSG4):c.1081G>A (p.Val361Ile)	DSG1-AS1, DSG4 (V361I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220205	NM_177986.5(DSG4):c.892G>A (p.Glu298Lys)	DSG1-AS1, DSG4 (E298K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218883	NM_177986.5(DSG4):c.1048G>A (p.Gly350Arg)	DSG1-AS1, DSG4 (G350R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217665	NM_177986.5(DSG4):c.713G>C (p.Arg238Thr)	DSG1-AS1, DSG4 (R238T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213694	NM_177986.5(DSG4):c.1401G>T (p.Glu467Asp)	DSG1-AS1, DSG4 (E467D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211872	NM_177986.5(DSG4):c.595G>A (p.Val199Ile)	DSG1-AS1, DSG4 (V199I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2207641	NM_177986.5(DSG4):c.1601G>T (p.Gly534Val)	DSG1-AS1, DSG4 (G534V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199931	NM_177986.5(DSG4):c.2919T>C (p.Gly973=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187457	NM_177986.5(DSG4):c.737C>T (p.Ala246Val)	DSG1-AS1, DSG4 (A246V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183631	NM_177986.5(DSG4):c.1214A>G (p.Asn405Ser)	DSG1-AS1, DSG4 (N405S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160294	NM_177986.5(DSG4):c.2361G>A (p.Ala787=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077909	NM_177986.5(DSG4):c.2621A>C (p.Asn874Thr)	DSG1-AS1, DSG4 (N893T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074764	NM_177986.5(DSG4):c.2920G>A (p.Val974Met)	DSG1-AS1, DSG4 (V993M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2074327	NM_177986.5(DSG4):c.51G>A (p.Val17=)	DSG1-AS1, DSG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 3