ClinVar (all) for Orgtrack (Select 506170) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064437	NM_000321.3(RB1):c.1699T>C (p.Ser567Pro)	RB1 (S567P)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 1064436	NM_000321.3(RB1):c.1331A>C (p.Gln444Pro)	RB1 (Q444P)	Single nucleotide variant (missense variant)	Retinoblastoma	GLikely pathogenic
Select item 1064435	NM_000321.3(RB1):c.1050-8_1050-2del	RB1	Deletion (splice acceptor variant)	Retinoblastoma	GPathogenic
Select item 1027549	NM_001353214.3(DYM):c.719C>A (p.Ser240Ter)	DYM (S164* +3 more)	Single nucleotide variant (nonsense +1 more)	Dyggve-Melchior-Clausen syndrome	GPathogenic
Select item 599277	NM_031296.3(RAB33B):c.186del (p.Glu63fs)	LOC129993110, RAB33B (E63fs)	Deletion (frameshift variant)	Smith-McCort dysplasia 2	GPathogenic/Likely pathogenic
Select item 521349	NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)	THOC6 (G275D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 521348	NM_024339.5(THOC6):c.700G>C (p.Val234Leu)	THOC6 (V234L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 521347	NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)	THOC6 (W100R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic

ClinVar