Related gene-specific medical variations for Gene (Select 5934) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359477	NM_005611.4(RBL2):c.1179+1_1179+5del	RBL2	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 3313148	NM_005611.4(RBL2):c.53C>T (p.Ala18Val)	LOC130059028, RBL2 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152136	NM_005611.4(RBL2):c.142C>T (p.Arg48Trp)	LOC130059028, RBL2 (R48W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3152132	NM_005611.4(RBL2):c.100G>T (p.Ala34Ser)	LOC130059028, RBL2 (A34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2523905	NM_005611.4(RBL2):c.23C>T (p.Ser8Leu)	LOC130059028, RBL2 (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318493	NM_005611.4(RBL2):c.91G>A (p.Ala31Thr)	LOC130059028, RBL2 (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342640	NM_005611.4(RBL2):c.2983A>G (p.Ser995Gly)	RBL2 (S921G +3 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1342639	NM_005611.4(RBL2):c.1948C>T (p.Arg650Cys)	RBL2 (R576C +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1332912	NC_000016.9:g.(53498276_53499349)_(53504835_53513065)del	RBL2	Deletion	Brunet-Wagner neurodevelopmental syndrome	GPathogenic
Select item 790705	NM_005611.4(RBL2):c.162C>T (p.Ser54=)	LOC130059028, RBL2	Single nucleotide variant (synonymous variant)	not provided	GBenign