"GeneDx"[submitter] AND "ORC1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297574	NM_004153.4(ORC1):c.*231C>T	ORC1	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 1 +1 more	GBenign
Select item 1182459	NM_004153.4(ORC1):c.2304-92T>C	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235241	NM_004153.4(ORC1):c.2134-218_2134-215dup	ORC1	Duplication (intron variant)	not provided	GBenign
Select item 1279404	NM_004153.4(ORC1):c.2133+57G>C	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291967	NM_004153.4(ORC1):c.2014-38G>A	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276486	NM_004153.4(ORC1):c.1755+244T>C	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274787	NM_004153.4(ORC1):c.1584-53A>G	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262746	NM_004153.4(ORC1):c.1583+52T>C	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129856	NM_004153.4(ORC1):c.1397C>T (p.Thr466Met)	ORC1 (T466M +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +1 more	GBenign
Select item 1258133	NM_004153.4(ORC1):c.1384-98C>G	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280300	NM_004153.4(ORC1):c.1384-108C>T	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252850	NM_004153.4(ORC1):c.1083-54G>A	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129863	NM_004153.4(ORC1):c.568G>A (p.Val190Met)	ORC1 (V190M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 30232	NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)	ORC1 (R105Q)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1289219	NM_004153.4(ORC1):c.224-148A>C	ORC1	Single nucleotide variant (intron variant)	not provided	GBenign