"GeneDx"[submitter] AND "ORC4"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 436118	NM_181741.4(ORC4):c.857C>T (p.Ala286Val)	ORC4 (A286V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1190198	NM_181741.4(ORC4):c.849+125_849+128del	ORC4	Deletion (intron variant)	not provided	GLikely benign
Select item 403280	NM_181741.4(ORC4):c.763-9del	ORC4	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1205167	NM_181741.4(ORC4):c.589-125T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248510	NM_181741.4(ORC4):c.588+289T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 30295	NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)	ORC4 (Y174C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1225533	NM_181741.4(ORC4):c.437-268A>G	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218613	NM_181741.4(ORC4):c.436+96del	ORC4	Deletion (intron variant)	not provided	GLikely benign
Select item 1194606	NM_181741.4(ORC4):c.388-294C>T	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175619	NM_181741.4(ORC4):c.302-147C>A	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 159483	NM_181741.4(ORC4):c.233A>G (p.Asn78Ser)	ORC4 (N78S +1 more)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 2 +2 more	GBenign
Select item 1239074	NM_181741.4(ORC4):c.226-275A>C	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 159482	NM_181741.4(ORC4):c.166C>G (p.Leu56Val)	ORC4 (L56V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1225277	NM_181741.4(ORC4):c.58-159A>G	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226694	NM_181741.4(ORC4):c.58-160C>T	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292020	NM_181741.4(ORC4):c.58-168dup	ORC4	Duplication (intron variant)	not provided	GBenign
Select item 1260381	NM_181741.4(ORC4):c.57+118A>G	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247797	NM_181741.4(ORC4):c.-17-11dup	ORC4	Duplication (intron variant)	Meier-Gorlin syndrome 2 +1 more	GBenign
Select item 1291959	NM_181741.4(ORC4):c.-17-255C>T	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381693	NM_018328.5(MBD5):c.-974A>G	MBD5, ORC4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 517739	NM_018328.5(MBD5):c.-973G>A	MBD5, ORC4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 381112	NM_018328.5(MBD5):c.-962+16C>T	ORC4, MBD5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 253591	GRCh37/hg19 2q23.1(chr2:148717346-148799306)x1	MBD5, ORC4	Copy number loss	See cases	GPathogenic
Select item 253422	GRCh37/hg19 2q23.1(chr2:148777552-148991171)x1	MBD5, ORC4	Copy number loss	See cases	GPathogenic
Select item 253398	GRCh37/hg19 2q23.1(chr2:148777298-148779627)x3	ORC4, MBD5	Copy number gain	See cases	GPathogenic
Select item 253346	GRCh37/hg19 2q23.1(chr2:148778595-148799306)x1	ORC4, MBD5	Copy number loss	See cases	GLikely pathogenic

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Items: 28