ClinVar for Gene (Select 5000) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303503	NM_181741.4(ORC4):c.422A>G (p.Glu141Gly)	ORC4 (E57G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247509	NC_000002.11:g.(?_148709922)_(148710113_?)del	ORC4	Deletion	not provided	GPathogenic
Select item 3206965	NM_181741.4(ORC4):c.949A>G (p.Ile317Val)	ORC4 (I243V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3206964	NM_181741.4(ORC4):c.832T>C (p.Ser278Pro)	ORC4 (S194P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3206963	NM_181741.4(ORC4):c.704C>T (p.Ser235Phe)	ORC4 (S151F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3206962	NM_181741.4(ORC4):c.404A>C (p.Asn135Thr)	ORC4 (N51T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062637	GRCh37/hg19 2q22.3-23.1(chr2:148646132-148829749)x1	ACVR2A, MBD5 +1 more	Copy number loss	not specified	GPathogenic
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 3023184	NM_181741.4(ORC4):c.437-15C>T	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022236	NM_181741.4(ORC4):c.507C>T (p.Asn169=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014660	NM_181741.4(ORC4):c.134+8T>A	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013330	NM_181741.4(ORC4):c.588+13G>A	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013117	NM_181741.4(ORC4):c.958+8C>T	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987317	NM_181741.4(ORC4):c.959-15T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982514	NM_181741.4(ORC4):c.1054+14T>G	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978516	NM_181741.4(ORC4):c.1275G>A (p.Val425=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968777	NM_181741.4(ORC4):c.763-20_763-19insA	ORC4	Insertion (intron variant)	not provided	GLikely benign
Select item 2967613	NM_181741.4(ORC4):c.1055-15T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2957254	NM_181741.4(ORC4):c.58-9T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874815	NM_181741.4(ORC4):c.816C>A (p.Ile272=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861882	NM_181741.4(ORC4):c.724G>A (p.Asp242Asn)	ORC4 (D242N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854351	NM_181741.4(ORC4):c.41_42del (p.Thr14fs)	ORC4 (T14fs)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 2848492	NM_181741.4(ORC4):c.387+7A>T	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834610	NM_181741.4(ORC4):c.135-7A>G	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828556	NM_181741.4(ORC4):c.92dup (p.Ser32fs)	ORC4 (S32fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2822188	NM_181741.4(ORC4):c.1123-6T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821989	NM_181741.4(ORC4):c.919C>T (p.Gln307Ter)	ORC4 (Q233* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2785032	NM_181741.4(ORC4):c.437-2A>G	ORC4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2684742	GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1	ACVR2A, ARL5A +13 more	Copy number loss	not provided	GPathogenic
Select item 2651403	NM_001378120.1(MBD5):c.-1112_-1111insGTT	MBD5, ORC4	Insertion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2651402	NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[1]	MBD5, ORC4	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2651401	NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[3]	MBD5, ORC4	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2651400	NM_181741.4(ORC4):c.198C>T (p.Ile66=)	ORC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2556321	NM_181741.4(ORC4):c.878C>G (p.Ser293Trp)	ORC4 (S293W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553786	NM_181741.4(ORC4):c.569T>C (p.Ile190Thr)	ORC4 (I106T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483044	NM_181741.4(ORC4):c.629T>G (p.Phe210Cys)	ORC4 (F126C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434515	NM_181741.4(ORC4):c.866G>A (p.Arg289Gln)	ORC4 (R205Q +2 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 2	GUncertain significance
Select item 2417372	NM_181741.4(ORC4):c.676T>C (p.Tyr226His)	ORC4 (Y142H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2334218	NM_181741.4(ORC4):c.514C>T (p.Leu172Phe)	ORC4 (L98F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327238	NM_181741.4(ORC4):c.806A>C (p.His269Pro)	ORC4 (H195P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282808	NM_181741.4(ORC4):c.379A>G (p.Lys127Glu)	ORC4 (K53E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265875	NM_181741.4(ORC4):c.199G>A (p.Gly67Arg)	ORC4 (G67R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2252491	NM_181741.4(ORC4):c.665G>A (p.Gly222Asp)	ORC4 (G148D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229167	NM_181741.4(ORC4):c.498T>A (p.His166Gln)	ORC4 (H92Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228992	NM_181741.4(ORC4):c.499C>A (p.His167Asn)	ORC4 (H83N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195535	NM_181741.4(ORC4):c.272G>C (p.Ser91Thr)	ORC4 (S17T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193180	NM_181741.4(ORC4):c.767_770del (p.Leu256fs)	ORC4 (L172fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2188990	NM_181741.4(ORC4):c.979T>G (p.Cys327Gly)	ORC4 (C253G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178452	NM_181741.4(ORC4):c.612_613del (p.Arg205fs)	ORC4 (R121fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2171600	NM_181741.4(ORC4):c.958+5G>T	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2165504	NM_181741.4(ORC4):c.45G>A (p.Glu15=)	ORC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2135395	NM_181741.4(ORC4):c.1122+3_1122+7del	ORC4	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2134638	NM_181741.4(ORC4):c.938C>G (p.Ser313Trp)	ORC4 (S229W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125720	NM_181741.4(ORC4):c.488T>C (p.Leu163Pro)	ORC4 (L79P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111614	NM_181741.4(ORC4):c.166C>T (p.Leu56Phe)	ORC4 (L56F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2109451	NM_181741.4(ORC4):c.226-3T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2103108	NM_181741.4(ORC4):c.879G>T (p.Ser293=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088901	NM_181741.4(ORC4):c.733T>G (p.Phe245Val)	ORC4 (F161V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088532	NM_181741.4(ORC4):c.1163T>A (p.Met388Lys)	ORC4 (M304K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080694	NM_181741.4(ORC4):c.830G>A (p.Arg277Gln)	ORC4 (R203Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075460	NM_181741.4(ORC4):c.133A>G (p.Lys45Glu)	ORC4 (K45E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2059518	NM_181741.4(ORC4):c.1240G>C (p.Ala414Pro)	ORC4 (A414P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050432	NM_181741.4(ORC4):c.520dup (p.Tyr174fs)	ORC4 (Y174fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2015097	NM_181741.4(ORC4):c.636C>A (p.His212Gln)	ORC4 (H138Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015096	NM_181741.4(ORC4):c.744G>A (p.Lys248=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994037	NM_181741.4(ORC4):c.763-5T>G	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1986521	NM_181741.4(ORC4):c.436+18C>T	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981660	NM_181741.4(ORC4):c.762+6T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1979948	NM_181741.4(ORC4):c.986T>C (p.Ile329Thr)	ORC4 (I329T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978986	NM_181741.4(ORC4):c.226-20C>T	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1969297	NM_181741.4(ORC4):c.310C>T (p.Gln104Ter)	ORC4 (Q20* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1966677	NM_181741.4(ORC4):c.387+3A>G	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1961104	NM_181741.4(ORC4):c.510A>G (p.Gln170=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958779	NM_181741.4(ORC4):c.1003T>A (p.Leu335Ile)	ORC4 (L251I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953913	NM_181741.4(ORC4):c.588+15T>A	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951626	NM_181741.4(ORC4):c.387+11T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932316	NM_181741.4(ORC4):c.387+18del	ORC4	Deletion (intron variant)	not provided	GLikely benign
Select item 1931016	NM_181741.4(ORC4):c.443G>A (p.Arg148Gln)	ORC4 (R148Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924188	NM_181741.4(ORC4):c.284dup (p.Leu95fs)	ORC4 (L11fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1915303	NM_181741.4(ORC4):c.295T>C (p.Leu99=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911961	NM_181741.4(ORC4):c.302G>T (p.Gly101Val)	ORC4 (G17V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911309	NM_181741.4(ORC4):c.317A>G (p.Asn106Ser)	ORC4 (N106S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906720	NM_181741.4(ORC4):c.528T>G (p.Leu176=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703533	GRCh37/hg19 2q22.3-23.1(chr2:148698834-148954778)	MBD5, ORC4	Copy number loss	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 1642871	NM_181741.4(ORC4):c.1080A>G (p.Lys360=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640240	NM_181741.4(ORC4):c.87T>C (p.Cys29=)	ORC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1634238	NM_181741.4(ORC4):c.1123-14C>A	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1632491	NM_181741.4(ORC4):c.57+17A>G	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630759	NM_181741.4(ORC4):c.763-16T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1622871	NM_181741.4(ORC4):c.1055-16A>G	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608285	NM_181741.4(ORC4):c.1054+20G>C	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606631	NM_181741.4(ORC4):c.849+20del	ORC4	Deletion (intron variant)	not provided	GLikely benign
Select item 1603702	NM_181741.4(ORC4):c.959-15dup	ORC4	Duplication (intron variant)	not provided	GBenign
Select item 1601023	NM_181741.4(ORC4):c.226-11T>G	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1594435	NM_181741.4(ORC4):c.162T>C (p.Thr54=)	ORC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1593712	NM_181741.4(ORC4):c.762+7del	ORC4	Deletion (intron variant)	not provided	GLikely benign
Select item 1582187	NM_181741.4(ORC4):c.1122+9_1122+10del	ORC4	Deletion (intron variant)	not provided	GLikely benign
Select item 1572218	NM_181741.4(ORC4):c.531T>C (p.Phe177=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567657	NM_181741.4(ORC4):c.301+9G>T	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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