ClinVar (all) for Orgtrack (Select 507079) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177572	NM_000321.3(RB1):c.2370_2372del (p.Tyr790_Lys791delinsTer)	RB1	Deletion (nonsense)	Retinoblastoma	GPathogenic
Select item 1177571	NM_000321.3(RB1):c.2371_2372insGTGT (p.Lys791fs)	RB1 (K791fs)	Insertion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1177570	NM_000321.3(RB1):c.2034dup (p.Ile679fs)	RB1 (I679fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1177569	NM_000321.3(RB1):c.1031_1034del (p.Gln344fs)	RB1 (Q344fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1177568	NM_000321.3(RB1):c.2325+2T>A	RB1	Single nucleotide variant (splice donor variant)	Retinoblastoma	GPathogenic
Select item 1177567	NM_000321.3(RB1):c.768dup (p.Gln257fs)	RB1 (Q257fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1177566	NM_000321.3(RB1):c.1916dup (p.Lys640fs)	RB1 (K640fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1177565	NM_000321.3(RB1):c.1510del (p.Gln504fs)	RB1 (Q504fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 1177564	NM_000321.3(RB1):c.2211+2T>C	RB1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1177563	NM_000321.3(RB1):c.856_857insTA (p.Asp286fs)	RB1 (D286fs)	Insertion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 638015	NM_001042492.3(NF1):c.7448_7457del (p.Pro2483fs)	NF1 (P2462fs +1 more)	Deletion (frameshift variant)	Neurofibroma	GPathogenic
Select item 635821	NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)	NF1 (T640I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 635820	NM_001042492.3(NF1):c.7063-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 635819	NM_001042492.3(NF1):c.2388del (p.Ala797fs)	NF1 (A797fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 635818	NM_001042492.3(NF1):c.7458-1G>C	NF1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 186215	NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	NF1	Deletion (frameshift variant)	Neurofibromatosis, type 1 +5 more	GPathogenic