ClinVar for Gene (Select 83737) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380661	NM_031483.7(ITCH):c.1906T>G (p.Leu636Val)	ITCH (L526V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248564	NC_000020.11:g.34210141_34393539dup	AHCY, ASIP +12 more	Duplication	Obesity and hypopigmentation	GPathogenic
Select item 3248297	NC_000020.10:g.(?_31571600)_(33001705_?)del	ACTL10, AHCY +22 more	Deletion	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 3248293	NC_000020.10:g.(?_32981618)_(32981707_?)del	ITCH	Deletion	Syndromic multisystem autoimmune disease due to ITCH deficiency	GPathogenic
Select item 3248292	NC_000020.10:g.(?_32981618)_(33095599_?)del	ITCH	Deletion	Syndromic multisystem autoimmune disease due to ITCH deficiency	GPathogenic
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3234499	NM_031483.7(ITCH):c.70+3424G>A	ITCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3111093	NM_031483.7(ITCH):c.676C>A (p.Pro226Thr)	ITCH (P267T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111092	NM_031483.7(ITCH):c.5C>G (p.Ser2Cys)	ITCH (S2C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3111091	NM_031483.7(ITCH):c.1901A>C (p.Lys634Thr)	ITCH (K675T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111090	NM_031483.7(ITCH):c.1357C>G (p.Pro453Ala)	ITCH (P453A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3111089	NM_031483.7(ITCH):c.1300T>G (p.Leu434Val)	ITCH (L324V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111088	NM_031483.7(ITCH):c.1057G>A (p.Val353Ile)	ITCH (V243I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111087	NM_031483.7(ITCH):c.1027A>G (p.Thr343Ala)	ITCH (T343A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064498	NM_031483.7(ITCH):c.3G>A (p.Met1Ile)	ITCH (M1I)	Single nucleotide variant (missense variant +2 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely pathogenic
Select item 3032919	NM_031483.7(ITCH):c.2040A>G (p.Lys680=)	ITCH	Single nucleotide variant (synonymous variant)	ITCH-related disorder	GLikely benign
Select item 3032099	NM_031483.7(ITCH):c.2541A>G (p.Glu847=)	ITCH	Single nucleotide variant (synonymous variant)	ITCH-related disorder	GLikely benign
Select item 3018890	NM_031483.7(ITCH):c.1819-6T>C	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 3015974	NM_031483.7(ITCH):c.1296-5C>T	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 3012274	NM_031483.7(ITCH):c.1658+8T>A	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 3009564	NM_031483.7(ITCH):c.2215-9T>A	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 3007998	NM_031483.7(ITCH):c.315A>G (p.Thr105=)	ITCH	Single nucleotide variant (synonymous variant +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 3006811	NM_031483.7(ITCH):c.150G>A (p.Gln50=)	ITCH	Single nucleotide variant (synonymous variant +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 3004345	NM_031483.7(ITCH):c.602C>T (p.Ser201Leu)	ITCH (S242L +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2999781	NM_031483.7(ITCH):c.2320-13A>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2999203	NM_031483.7(ITCH):c.984C>T (p.Asp328=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2984433	NM_031483.7(ITCH):c.522-5C>T	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2975503	NM_031483.7(ITCH):c.1570-12del	ITCH	Deletion (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2972457	NM_031483.7(ITCH):c.70+16A>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2911314	NM_031483.7(ITCH):c.213-18C>A	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2909768	NM_031483.7(ITCH):c.1497+15T>C	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2903675	NM_031483.7(ITCH):c.744G>A (p.Pro248=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2901364	NM_031483.7(ITCH):c.1658+19C>T	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2889812	NM_031483.7(ITCH):c.679+19A>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2888530	NM_031483.7(ITCH):c.1953-16A>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2887852	NM_031483.7(ITCH):c.522-14C>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2884231	NM_031483.7(ITCH):c.2454T>C (p.Val818=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2879421	NM_031483.7(ITCH):c.1545A>G (p.Thr515=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2878299	NM_031483.7(ITCH):c.475+15T>C	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2877916	NM_031483.7(ITCH):c.2094-5G>T	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2874564	NM_031483.7(ITCH):c.966-15_966-14insC	ITCH	Insertion (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2874259	NM_031483.7(ITCH):c.117A>G (p.Pro39=)	ITCH	Single nucleotide variant (synonymous variant +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2862526	NM_031483.7(ITCH):c.476-10G>T	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2861342	NM_031483.7(ITCH):c.2332A>G (p.Ile778Val)	ITCH (I668V +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2859240	NM_031483.7(ITCH):c.1658+16A>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2846614	NM_031483.7(ITCH):c.475+12C>T	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2842542	NM_031483.7(ITCH):c.1664G>A (p.Trp555Ter)	ITCH (W445* +2 more)	Single nucleotide variant (nonsense)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GPathogenic
Select item 2840554	NM_031483.7(ITCH):c.194G>A (p.Trp65Ter)	ITCH (W65*)	Single nucleotide variant (nonsense +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GPathogenic
Select item 2837989	NM_031483.7(ITCH):c.1326T>C (p.Gly442=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2832581	NM_031483.7(ITCH):c.1497+9_1497+19del	ITCH	Deletion (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2821182	NM_031483.7(ITCH):c.2417-7G>A	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2818262	NM_031483.7(ITCH):c.330T>C (p.Asn110=)	ITCH	Single nucleotide variant (synonymous variant +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2817725	NM_031483.7(ITCH):c.2489+14G>A	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2816599	NM_031483.7(ITCH):c.2208A>G (p.Glu736=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2816259	NM_031483.7(ITCH):c.1132A>G (p.Ile378Val)	ITCH (I268V +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2813624	NM_031483.7(ITCH):c.1498-18G>A	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2813293	NM_031483.7(ITCH):c.1497+14C>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2805065	NM_031483.7(ITCH):c.1473T>C (p.Val491=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2798422	NM_031483.7(ITCH):c.9C>T (p.Asp3=)	ITCH	Single nucleotide variant (synonymous variant +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2793510	NM_031483.7(ITCH):c.2044A>G (p.Asn682Asp)	ITCH (N572D +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2786965	NM_031483.7(ITCH):c.537A>G (p.Gly179=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2780280	NM_031483.7(ITCH):c.900A>C (p.Arg300=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2778579	NM_031483.7(ITCH):c.859T>C (p.Leu287=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2772121	NM_031483.7(ITCH):c.1569+11A>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2770701	NM_031483.7(ITCH):c.1200A>G (p.Pro400=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2768503	NM_031483.7(ITCH):c.522-13T>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2765211	NM_031483.7(ITCH):c.378_394del (p.Lys126fs)	ITCH (K16fs +1 more)	Deletion (frameshift variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GPathogenic
Select item 2764926	NM_031483.7(ITCH):c.2472A>C (p.Leu824=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2763015	NM_031483.7(ITCH):c.1194A>T (p.Pro398=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2742160	NM_031483.7(ITCH):c.965+17A>T	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2741940	NM_031483.7(ITCH):c.2547G>C (p.Leu849=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2740129	NM_031483.7(ITCH):c.966-12T>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2732699	NM_031483.7(ITCH):c.2277T>C (p.Arg759=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2731373	NM_031483.7(ITCH):c.2533C>A (p.Leu845Met)	ITCH (L845M +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2717852	NM_031483.7(ITCH):c.2240T>C (p.Ile747Thr)	ITCH (I788T +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2708035	NM_031483.7(ITCH):c.2094-13A>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2706224	NM_031483.7(ITCH):c.854C>T (p.Ala285Val)	ITCH (A175V +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2706035	NM_031483.7(ITCH):c.2334T>C (p.Ile778=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2695372	NM_031483.7(ITCH):c.1011C>T (p.Asp337=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2694592	NM_031483.7(ITCH):c.1602A>G (p.Arg534=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2688542	NM_031483.7(ITCH):c.70+3468A>G	ITCH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688209	NM_031483.7(ITCH):c.1210+359A>T	ITCH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688113	NM_031483.7(ITCH):c.521+5677A>G	ITCH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2652267	NM_031483.7(ITCH):c.70+3385C>T	ITCH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637033	NM_031483.7(ITCH):c.2054A>G (p.Asn685Ser)	ITCH (N575S +2 more)	Single nucleotide variant (missense variant)	ITCH-related disorder	GUncertain significance
Select item 2628201	NM_031483.7(ITCH):c.966-10dup	ITCH	Duplication (intron variant)	not specified	GBenign
Select item 2628179	NM_031483.7(ITCH):c.1952+26A>T	ITCH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628157	NM_031483.7(ITCH):c.1497+29G>C	ITCH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628156	NM_031483.7(ITCH):c.1210+51C>T	ITCH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628133	NM_031483.7(ITCH):c.212+91G>T	ITCH	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2494975	NM_031483.7(ITCH):c.691G>A (p.Gly231Ser)	ITCH (G272S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442485	NM_031483.7(ITCH):c.1116G>T (p.Gln372His)	ITCH (Q262H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432886	NM_031483.7(ITCH):c.1296-1486G>A	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2432885	NM_031483.7(ITCH):c.957A>G (p.Leu319=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2432883	NM_031483.7(ITCH):c.2357T>G (p.Leu786Arg)	ITCH (L676R +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2427922	NM_031483.7(ITCH):c.541G>C (p.Asp181His)	ITCH (D181H +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2426984	NC_000020.10:g.(?_33044890)_(33049935_?)del	ITCH	Deletion	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely pathogenic
Select item 2426983	NC_000020.10:g.(?_32868840)_(33033286_?)dup	AHCY, ITCH	Duplication	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2426982	NC_000020.10:g.(?_33057833)_(33077751_?)del	ITCH	Deletion	Syndromic multisystem autoimmune disease due to ITCH deficiency	GPathogenic
Select item 2426981	NC_000020.10:g.(?_33059229)_(33059340_?)del	ITCH	Deletion	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance

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