ClinVar for MedGen (Select 1641240) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 78

	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 2597050	NM_004153.4(ORC1):c.521C>T (p.Ala174Val)	ORC1 (A174V)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +1 more	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 1177301	NM_017613.4(DONSON):c.631C>G (p.Arg211Gly)	DONSON (R211G)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 1177300	NM_017613.4(DONSON):c.48del (p.Glu17fs)	DONSON (E17fs)	Deletion (frameshift variant)	Meier-Gorlin syndrome 1	GLikely pathogenic
Select item 1173068	NM_004153.4(ORC1):c.217G>A (p.Glu73Lys)	ORC1 (E73K)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 1173067	NC_000001.11:g.52369378_52373625del	ORC1	Deletion	Meier-Gorlin syndrome 1	GPathogenic
Select item 1173052	NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro)	ORC1 (L617P +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 1034053	NM_004153.4(ORC1):c.934C>T (p.Pro312Ser)	ORC1 (P312S)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 1034052	NM_004153.4(ORC1):c.237del (p.Pro80fs)	ORC1 (P80fs)	Deletion (frameshift variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 1028196	NM_004153.4(ORC1):c.1582G>A (p.Gly528Arg)	ORC1 (G523R +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 998022	NM_004153.4(ORC1):c.[2483C>T;2484del]	ORC1 (C824fs +3 more)	Deletion (frameshift variant +1 more)	Meier-Gorlin syndrome 1	GLikely pathogenic
Select item 982308	NM_004153.4(ORC1):c.313C>T (p.Arg105Trp)	ORC1 (R105W)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GLikely pathogenic
Select item 876822	NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp)	ORC1 (G399D)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GUncertain significance
Select item 876821	NM_004153.4(ORC1):c.1383T>C (p.Ser461=)	ORC1	Single nucleotide variant (synonymous variant +1 more)	Meier-Gorlin syndrome 1 +1 more	GUncertain significance
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 875878	NM_004153.4(ORC1):c.-5-12A>T	ORC1	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 875877	NM_004153.4(ORC1):c.151C>G (p.Gln51Glu)	ORC1 (Q51E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875830	NM_004153.4(ORC1):c.1466A>T (p.Glu489Val)	ORC1 (E484V +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GUncertain significance
Select item 875829	NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys)	ORC1 (R544C +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GUncertain significance
Select item 874949	NM_004153.4(ORC1):c.189G>T (p.Pro63=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 874948	NM_004153.4(ORC1):c.289G>T (p.Ala97Ser)	ORC1 (A97S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 874947	NM_004153.4(ORC1):c.402+12C>T	ORC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 874894	NM_004153.4(ORC1):c.2303+10T>C	ORC1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874893	NM_004153.4(ORC1):c.2418C>T (p.Cys806=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 874013	NM_004153.4(ORC1):c.556T>C (p.Cys186Arg)	ORC1 (C186R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 874012	NM_004153.4(ORC1):c.808G>A (p.Glu270Lys)	ORC1 (E270K)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 874011	NM_004153.4(ORC1):c.911C>T (p.Thr304Ile)	ORC1 (T304I)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 874010	NM_004153.4(ORC1):c.1025G>T (p.Gly342Val)	ORC1 (G342V)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 873950	NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu)	ORC1 (P807L +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 873949	NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp)	ORC1 (R846W +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 873948	NM_004153.4(ORC1):c.2570C>T (p.Ala857Val)	ORC1 (A852V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 732313	NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg)	ORC1 (C469R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 723109	NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg)	ORC1 (Q577R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 703217	NM_004153.4(ORC1):c.2580C>T (p.Asp860=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 703005	NM_004153.4(ORC1):c.1707T>C (p.Asn569=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 702027	NM_004153.4(ORC1):c.2162G>A (p.Arg721Gln)	ORC1 (R716Q +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 638448	NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile)	ORC1 (T655I +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 632110	NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter)	ORC1 (S737* +1 more)	Duplication (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445694	NM_004153.4(ORC1):c.540A>C (p.Gln180His)	ORC1 (Q180H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 436115	NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)	ORC1 (T203I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 436112	NM_004153.4(ORC1):c.2226C>A (p.Ser742=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1 +2 more	GBenign/Likely benign
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 297588	NM_004153.4(ORC1):c.392G>T (p.Gly131Val)	ORC1 (G131V)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297587	NM_004153.4(ORC1):c.435G>A (p.Pro145=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297586	NM_004153.4(ORC1):c.535C>A (p.Pro179Thr)	ORC1 (P179T)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297585	NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu)	ORC1 (R380L)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297584	NM_004153.4(ORC1):c.1284A>C (p.Thr428=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297583	NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln)	ORC1 (R477Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 297582	NM_004153.4(ORC1):c.1584-4C>G	ORC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 297581	NM_004153.4(ORC1):c.1671C>T (p.Ala557=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 297580	NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala)	ORC1 (T607A +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 297579	NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)	ORC1 (V772I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 297578	NM_004153.4(ORC1):c.2382G>A (p.Thr794=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 297577	NM_004153.4(ORC1):c.2404C>T (p.His802Tyr)	ORC1 (H802Y +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297576	NM_004153.4(ORC1):c.*94C>T	ORC1	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297575	NM_004153.4(ORC1):c.*226G>C	ORC1	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 1	GUncertain significance
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 259242	NM_004153.4(ORC1):c.57G>C (p.Arg19Ser)	ORC1 (R19S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 211798	NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro)	ORC1 (S440P)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 211797	NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp)	ORC1 (R396W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 129864	NM_004153.4(ORC1):c.806C>T (p.Ser269Leu)	ORC1 (S269L)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +2 more	GBenign/Likely benign
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 129860	NM_004153.4(ORC1):c.2447T>C (p.Met816Thr)	ORC1 (M816T +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +1 more	GBenign
Select item 129859	NM_004153.4(ORC1):c.2427G>A (p.Glu809=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1 +1 more	GBenign
Select item 129857	NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr)	ORC1 (C469Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 129854	NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)	ORC1 (A372V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 30236	NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)	ORC1 (R666W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30235	NM_004153.4(ORC1):c.1482-2A>G	ORC1	Single nucleotide variant (splice acceptor variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 30234	NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs)	ORC1 (V662fs +1 more)	Indel (frameshift variant)	Meier-Gorlin syndrome 1	GPathogenic
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 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 30231	NM_004153.4(ORC1):c.266T>C (p.Phe89Ser)	ORC1 (F89S)	Single nucleotide variant (missense variant)	ORC1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 30230	NM_004153.4(ORC1):c.380A>G (p.Glu127Gly)	ORC1 (E127G)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 78