ClinVar for MedGen (Select 1794266) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341363	NM_005611.4(RBL2):c.3139C>T (p.Arg1047Ter)	RBL2 (R1023* +3 more)	Single nucleotide variant (nonsense)	Brunet-Wagner neurodevelopmental syndrome	GLikely pathogenic
Select item 3065286	NM_005611.4(RBL2):c.1472_1473del (p.His491fs)	RBL2 (H417fs +1 more)	Deletion (frameshift variant)	Brunet-Wagner neurodevelopmental syndrome	GLikely pathogenic
Select item 2683915	NM_005611.4(RBL2):c.574C>T (p.Arg192Ter)	RBL2 (R118* +1 more)	Single nucleotide variant (nonsense)	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 1339436	NM_005611.4(RBL2):c.901dup (p.Tyr301fs)	RBL2 (Y227fs +1 more)	Duplication (frameshift variant)	Brunet-Wagner neurodevelopmental syndrome	GLikely pathogenic
Select item 1333650	NM_005611.4(RBL2):c.1596_1597del (p.Leu533fs)	RBL2 (L459fs +1 more)	Microsatellite (frameshift variant)	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 1332914	NM_005611.4(RBL2):c.573-1358_766+5del	RBL2	Deletion (splice acceptor variant +1 more)	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 1332913	NM_005611.4(RBL2):c.926dup (p.Leu310fs)	RBL2 (L236fs +1 more)	Duplication (frameshift variant)	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 1332912	NC_000016.9:g.(53498276_53499349)_(53504835_53513065)del	RBL2	Deletion	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 1332911	NM_005611.4(RBL2):c.556C>T (p.Arg186Ter)	RBL2 (R186* +1 more)	Single nucleotide variant (nonsense)	Brunet-Wagner neurodevelopmental syndrome	GLikely pathogenic