"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC108903 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447911	NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala)	LOC108903148, OPTN (P16A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1323386	NM_001008212.2(OPTN):c.76dup (p.His26fs)	LOC108903148, OPTN (H26fs)	Duplication (frameshift variant)	OPTN-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 96022	NM_001008212.2(OPTN):c.102G>A (p.Thr34=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +4 more	GBenign
Select item 3047574	NM_001008212.2(OPTN):c.111G>A (p.Pro37=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder	GLikely benign
Select item 703912	NM_001008212.2(OPTN):c.147C>T (p.Thr49=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +3 more	GBenign/Likely benign
Select item 3060368	NM_001008212.2(OPTN):c.267G>A (p.Gln89=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder	GLikely benign
Select item 7099	NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)	LOC108903148, OPTN (M98K)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign

ClinVar