C3150649[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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