"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PDSS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214982	NM_014317.5(PDSS1):c.163-5del	PDSS1	Deletion (intron variant)	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome +3 more	GBenign/Likely benign
Select item 1694025	NM_014317.5(PDSS1):c.249C>G (p.Asp83Glu)	PDSS1 (D83E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138683	NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)	PDSS1 (K197E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214975	NM_014317.5(PDSS1):c.760G>C (p.Glu254Gln)	PDSS1 (E254Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 559168	NM_014317.5(PDSS1):c.1027-33_1027-30delinsAATA	PDSS1	Indel (intron variant)	not provided	GLikely benign
Select item 559167	NM_014317.5(PDSS1):c.1027-33_1027-30del	PDSS1	Deletion (intron variant)	not provided	GBenign
Select item 1694026	NM_014317.5(PDSS1):c.1123_1134delinsA (p.Gln375fs)	PDSS1 (Q205fs +1 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance

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