"USP44-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047912	NM_032147.5(USP44):c.1489T>C (p.Leu497=)	USP44	Single nucleotide variant (synonymous variant +1 more)	USP44-related disorder	GLikely benign
Select item 3050312	NM_032147.5(USP44):c.1443A>T (p.Ala481=)	USP44	Single nucleotide variant (synonymous variant +1 more)	USP44-related disorder	GLikely benign
Select item 715654	NM_032147.5(USP44):c.1087G>A (p.Gly363Ser)	USP44 (G363S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3052269	NM_032147.5(USP44):c.492A>G (p.Thr164=)	USP44	Single nucleotide variant (synonymous variant +1 more)	USP44-related disorder	GLikely benign
Select item 3053730	NM_032147.5(USP44):c.106G>A (p.Glu36Lys)	USP44 (E36K)	Single nucleotide variant (missense variant +1 more)	USP44-related disorder	GBenign
Select item 3048368	NM_032147.5(USP44):c.6A>G (p.Leu2=)	USP44	Single nucleotide variant (synonymous variant +1 more)	USP44-related disorder	GLikely benign

ClinVar