"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065251	NM_003611.3(OFD1):c.614_617del (p.Arg205fs)	OFD1 (R205fs +1 more)	Microsatellite (frameshift variant)	Orofaciodigital syndrome I	GLikely pathogenic
Select item 1723577	NM_003611.3(OFD1):c.1365_1368del (p.Lys455fs)	OFD1 (K315fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3064749	NM_003611.3(OFD1):c.2997-3T>G	OFD1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome I	GUncertain significance

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