ClinVar for MedGen (Select 461999) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	ITCH-related disorder +1 more	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 (5 prime UTR 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 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
Select item 2421897	NM_031483.7(ITCH):c.234A>G (p.Lys78=)	ITCH	Single nucleotide variant (synonymous variant +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2413402	NM_031483.7(ITCH):c.2490-19T>C	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2185027	NM_031483.7(ITCH):c.839A>G (p.Asn280Ser)	ITCH (N321S +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2182625	NM_031483.7(ITCH):c.1056C>T (p.Ser352=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2177468	NM_031483.7(ITCH):c.965+12A>C	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2174782	NM_031483.7(ITCH):c.297A>G (p.Ala99=)	ITCH	Single nucleotide variant (synonymous variant +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2172793	NM_031483.7(ITCH):c.2370T>C (p.Val790=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2158331	NM_031483.7(ITCH):c.1295+18T>C	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2144106	NM_031483.7(ITCH):c.1085A>G (p.Gln362Arg)	ITCH (Q362R +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2142328	NM_031483.7(ITCH):c.1296-15T>C	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2140722	NM_031483.7(ITCH):c.965+16T>A	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2139169	NM_031483.7(ITCH):c.2489+10A>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2133251	NM_031483.7(ITCH):c.71-16C>T	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2128157	NM_031483.7(ITCH):c.1813G>C (p.Ala605Pro)	ITCH (A495P +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2127093	NM_031483.7(ITCH):c.513T>C (p.Asp171=)	ITCH	Single nucleotide variant (synonymous variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2126714	NM_031483.7(ITCH):c.213-20C>A	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2124402	NM_031483.7(ITCH):c.338-17A>C	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2123694	NM_031483.7(ITCH):c.496G>C (p.Gly166Arg)	ITCH (G207R +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2121955	NM_031483.7(ITCH):c.2151T>A (p.Phe717Leu)	ITCH (F717L +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2121430	NM_031483.7(ITCH):c.1067A>G (p.Tyr356Cys)	ITCH (Y246C +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2119044	NM_031483.7(ITCH):c.495T>A (p.Asp165Glu)	ITCH (D165E +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2117941	NM_031483.7(ITCH):c.1569+1G>T	ITCH	Single nucleotide variant (splice donor variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely pathogenic
Select item 2116656	NM_031483.7(ITCH):c.2334del (p.Ile778fs)	ITCH (I668fs +2 more)	Deletion (frameshift variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GPathogenic
Select item 2108542	NM_031483.7(ITCH):c.1569+17T>C	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely benign
Select item 2106810	NM_031483.7(ITCH):c.652C>T (p.Pro218Ser)	ITCH (P259S +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2104745	NM_031483.7(ITCH):c.679+7A>G	ITCH	Single nucleotide variant (intron variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2103297	NM_031483.7(ITCH):c.2162A>G (p.Asn721Ser)	ITCH (N721S +2 more)	Single nucleotide variant (missense variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 2102736	NM_031483.7(ITCH):c.127G>T (p.Val43Leu)	ITCH (V43L)	Single nucleotide variant (missense variant +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance

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