"Clinical Genetics, Academic Medical Center"[submitter] AND "FAM161A"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336733	NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 28 +2 more	GConflicting classifications of pathogenicity
Select item 38	NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A (R523*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 552429	NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	FAM161A (C501fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic/Likely pathogenic
Select item 36	NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	FAM161A (R437*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 167058	NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)	FAM161A (L378R)	Single nucleotide variant (missense variant +1 more)	FAM161A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 336739	NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)	FAM161A (R338Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167059	NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)	FAM161A (T66I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity

ClinVar