"Blueprint Genetics"[submitter] AND "FAM161A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 862611	NM_001201543.2(FAM161A):c.2065G>T (p.Asp689Tyr)	FAM161A (D633Y +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 38	NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A (R523*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +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 37	NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)	FAM161A (T452fs)	Deletion (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)	not provided +3 more	GPathogenic
Select item 35	NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)	FAM161A (R229*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 866876	NM_001201543.2(FAM161A):c.139G>C (p.Glu47Gln)	FAM161A, LOC129933843 (E47Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar