Related gene-specific medical variations for Gene (Select 101927718) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 577

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391063	NM_177986.5(DSG4):c.2389C>T (p.Arg797Ter)	DSG1-AS1, DSG4 (R797* +1 more)	Single nucleotide variant (nonsense)	Hypotrichosis 6	GLikely pathogenic
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 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 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 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 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 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 2906178	NM_177986.5(DSG4):c.2997A>T (p.Pro999=)	DSG1-AS1, DSG4	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 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 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 2872512	NM_177986.5(DSG4):c.1836G>A (p.Thr612=)	DSG1-AS1, DSG4	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 2813708	NM_177986.5(DSG4):c.1375_1376insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTCAAAATATA (p.Ile459fs)	DSG1-AS1, DSG4 (I459fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
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

<< First< Prev

Page of 6