"PreventionGenetics, part of Exact Sciences"[submitter] AND "OTUD4"[ge - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038194	NM_001366057.1(OTUD4):c.1699G>A (p.Val567Met)	OTUD4 (V502M +1 more)	Single nucleotide variant (missense variant)	OTUD4-related disorder	GLikely benign
Select item 3046046	NM_001366057.1(OTUD4):c.809-7_809-6del	OTUD4	Deletion (intron variant)	OTUD4-related disorder	GLikely benign
Select item 3055796	NM_001366057.1(OTUD4):c.646G>A (p.Ala216Thr)	OTUD4 (A151T +1 more)	Single nucleotide variant (missense variant)	OTUD4-related disorder	GBenign
Select item 2655111	NM_001366057.1(OTUD4):c.456G>A (p.Val152=)	OTUD4	Single nucleotide variant (synonymous variant)	OTUD4-related disorder +1 more	GBenign/Likely benign
Select item 3035947	NM_001366057.1(OTUD4):c.81C>T (p.Ala27=)	OTUD4	Single nucleotide variant (synonymous variant)	OTUD4-related disorder	GLikely benign

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