ClinVar (all) for Orgtrack (Select 508635) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693558	NM_000088.4(COL1A1):c.4332del (p.Leu1445fs)	COL1A1 (L1445fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type I	GPathogenic
Select item 426404	NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)	COL2A1 (R533* +1 more)	Single nucleotide variant (nonsense)	Connective tissue disorder +2 more	GPathogenic
Select item 425657	NM_000089.4(COL1A2):c.3106G>C (p.Gly1036Arg)	COL1A2 (G1036R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta with normal sclerae, dominant form +2 more	GPathogenic
Select item 40555	NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)	PTPN11 (R501K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GPathogenic
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	FGFR3-Related Disorders +18 more	GPathogenic
Select item 13272	NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	FGFR2 (S252W +3 more)	Single nucleotide variant (missense variant +2 more)	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis +14 more	GPathogenic
Select item 12873	NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)	SOS1 (W432R +1 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic

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