C1419614[trait identifier] AND "Counsyl"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553904	NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del)	FAM161A (E709del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 550916	NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs)	FAM161A (G649fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 552348	NM_001201543.2(FAM161A):c.1584-11G>A	FAM161A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 37	NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)	FAM161A (T452fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 36	NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	FAM161A (R437*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +3 more	GPathogenic

ClinVar