"GeneDx"[submitter] AND "FAM161A"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60146	GRCh38/hg38 2p16.1-15(chr2:56738054-62473668)x1	B3GNT2, BCL11A +161 more	Copy number loss	See cases	GPathogenic
Select item 60147	GRCh38/hg38 2p16.1-15(chr2:57249378-61842734)x1	LOC110120782, LOC110120811 +123 more	Copy number loss	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 60179	GRCh38/hg38 2p15(chr2:61515438-62305848)x1	B3GNT2, CCT4 +32 more	Copy number loss	See cases	GPathogenic
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 37	NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)	FAM161A (T452fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +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 336742	NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val)	FAM161A (I236V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GBenign
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
Select item 253686	GRCh37/hg19 2p16.1-15(chr2:60405806-62442792)x3	B3GNT2, BCL11A +11 more	Copy number gain	See cases	GUncertain significance