Related gene-specific medical variations for Gene (Select 83737) - ClinVar - NCBI

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

Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 930887	NM_031483.7(ITCH):c.25G>C (p.Gly9Arg)	ITCH (G9R)	Single nucleotide variant (missense variant +1 more)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GUncertain significance
Select item 930463	NM_031483.7(ITCH):c.1952+3_1952+6del	ITCH	Microsatellite (splice donor variant)	Syndromic multisystem autoimmune disease due to ITCH deficiency	GLikely pathogenic
Select item 377245	NM_031483.7(ITCH):c.131A>G (p.Glu44Gly)	ITCH (E44G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance