Related gene-specific medical variations for Gene (Select 4998) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067926	NM_004153.4(ORC1):c.464T>C (p.Phe155Ser)	ORC1 (F155S)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 2441664	NM_004153.4(ORC1):c.688dup (p.Thr230fs)	ORC1 (T230fs)	Duplication (frameshift variant)	Meier-Gorlin syndrome 1	GLikely pathogenic
Select item 1323388	NM_004153.4(ORC1):c.403-2A>C	ORC1	Single nucleotide variant (splice acceptor variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 1012241	NM_004153.4(ORC1):c.2483C>T (p.Ser828Phe)	ORC1 (S823F +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1012240	NM_004153.4(ORC1):c.2484del (p.Cys829fs)	ORC1 (C824fs +1 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 875879	NM_004153.4(ORC1):c.-178C>T	LOC126805733, ORC1	Single nucleotide variant (5 prime UTR variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297590	NM_004153.3(ORC1):c.-199C>G	LOC126805733, ORC1	Single nucleotide variant (genic upstream transcript variant)	Meier-Gorlin syndrome	GUncertain significance

ClinVar