"PDSS1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138681	NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys)	PDSS1 (F136C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 518064	NM_014317.5(PDSS1):c.411A>G (p.Arg137=)	PDSS1	Single nucleotide variant (synonymous variant +1 more)	PDSS1-related disorder +2 more	GBenign/Likely benign
Select item 764183	NM_014317.5(PDSS1):c.537C>T (p.His179=)	PDSS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2183692	NM_014317.5(PDSS1):c.582A>G (p.Thr194=)	PDSS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3031266	NM_014317.5(PDSS1):c.1108-7_1108-3dup	PDSS1	Duplication (intron variant)	PDSS1-related disorder	GLikely benign

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