"Revvity Omics, Revvity"[submitter] AND "FAM161A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1068711	NM_001201543.2(FAM161A):c.1849C>T (p.Gln617Ter)	FAM161A (Q561* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
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 812322	NM_001201543.2(FAM161A):c.1321dup (p.His441fs)	FAM161A (H441fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic
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 497934	NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter)	FAM161A (R335*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic
Select item 35	NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)	FAM161A (R229*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 950837	NM_001201543.2(FAM161A):c.277G>T (p.Glu93Ter)	FAM161A (E93*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic

ClinVar