"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRSS56"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 707140	NM_001195129.2(PRSS56):c.205+10C>G	PRSS56	Single nucleotide variant (intron variant)	PRSS56-related disorder +2 more	GBenign
Select item 741549	NM_001195129.2(PRSS56):c.429A>T (p.Ala143=)	PRSS56	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1556974	NM_001195129.2(PRSS56):c.1019C>T (p.Ser340Phe)	PRSS56 (S340F +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6 +1 more	GBenign
Select item 31077	NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs)	PRSS56 (Q356fs +1 more)	Duplication (frameshift variant)	PRSS56-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 3057584	NM_001195129.2(PRSS56):c.1187-9G>C	PRSS56	Single nucleotide variant (intron variant)	PRSS56-related disorder	GLikely benign
Select item 1600194	NM_001195129.2(PRSS56):c.1693G>T (p.Ala565Ser)	PRSS56 (A565S +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6 +1 more	GBenign
Select item 3058371	NM_001195129.2(PRSS56):c.1749C>T (p.Pro583=)	PRSS56	Single nucleotide variant (synonymous variant)	PRSS56-related disorder	GLikely benign

ClinVar