"Genetic Services Laboratory, University of Chicago"[submitter] AND "O - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211800	NM_004153.4(ORC1):c.2571G>A (p.Ala857=)	ORC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 129861	NM_004153.4(ORC1):c.2518G>A (p.Asp840Asn)	ORC1 (D840N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 129860	NM_004153.4(ORC1):c.2447T>C (p.Met816Thr)	ORC1 (M816T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 436114	NM_004153.4(ORC1):c.2436G>A (p.Pro812=)	ORC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 129859	NM_004153.4(ORC1):c.2427G>A (p.Glu809=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129858	NM_004153.4(ORC1):c.2405A>G (p.His802Arg)	ORC1 (H802R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436111	NM_004153.4(ORC1):c.2347G>A (p.Ala783Thr)	ORC1 (A783T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297579	NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)	ORC1 (V772I +1 more)	Single nucleotide variant (missense variant)	ORC1-related condition +3 more	GBenign/Likely benign
Select item 436112	NM_004153.4(ORC1):c.2226C>A (p.Ser742=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 30233	NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)	ORC1 (R720Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 297580	NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala)	ORC1 (T607A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 129852	NM_004153.4(ORC1):c.1581A>G (p.Gly527=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211799	NM_004153.4(ORC1):c.1517G>A (p.Cys506Tyr)	ORC1 (C506Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129857	NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr)	ORC1 (C469Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 129856	NM_004153.4(ORC1):c.1397C>T (p.Thr466Met)	ORC1 (T466M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 211798	NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro)	ORC1 (S440P)	Single nucleotide variant (missense variant)	ORC1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1336943	NM_004153.4(ORC1):c.1295C>G (p.Pro432Arg)	ORC1 (P432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129855	NM_004153.4(ORC1):c.1239A>C (p.Ala413=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 211797	NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp)	ORC1 (R396W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 129854	NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)	ORC1 (A372V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 211796	NM_004153.4(ORC1):c.1083-4G>C	ORC1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 211803	NM_004153.4(ORC1):c.943C>T (p.Arg315Cys)	ORC1 (R315C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 129864	NM_004153.4(ORC1):c.806C>T (p.Ser269Leu)	ORC1 (S269L)	Single nucleotide variant (missense variant)	ORC1-related condition +3 more	GBenign/Likely benign
Select item 211802	NM_004153.4(ORC1):c.703A>G (p.Lys235Glu)	ORC1 (K235E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436113	NM_004153.4(ORC1):c.625G>A (p.Ala209Thr)	ORC1 (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436115	NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)	ORC1 (T203I)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GUncertain significance
Select item 129863	NM_004153.4(ORC1):c.568G>A (p.Val190Met)	ORC1 (V190M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 211801	NM_004153.4(ORC1):c.403-7A>C	ORC1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 129862	NM_004153.4(ORC1):c.400C>T (p.Arg134Trp)	ORC1 (R134W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297589	NM_004153.4(ORC1):c.387C>T (p.Ile129=)	ORC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1336517	NM_004153.4(ORC1):c.325G>A (p.Ala109Thr)	ORC1 (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 129853	NM_004153.4(ORC1):c.308T>C (p.Leu103Ser)	ORC1 (L103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259242	NM_004153.4(ORC1):c.57G>C (p.Arg19Ser)	ORC1 (R19S)	Single nucleotide variant (missense variant)	ORC1-related condition +3 more	GBenign/Likely benign

ClinVar

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Items: 34