8490[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
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 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 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 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 150047	GRCh38/hg38 2q22.3-23.1(chr2:147680433-148220153)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 57146	GRCh38/hg38 2q22.3-23.1(chr2:147713771-148177277)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 153625	GRCh38/hg38 2q22.3-23.1(chr2:147732899-148156266)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GPathogenic
Select item 2978516	NM_181741.4(ORC4):c.1275G>A (p.Val425=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 211805	NM_181741.4(ORC4):c.1226del (p.Thr409fs)	ORC4 (T409fs +2 more)	Deletion (frameshift variant)	Meier-Gorlin syndrome 2	GPathogenic
Select item 1400396	NM_181741.4(ORC4):c.1202T>C (p.Leu401Pro)	ORC4 (L401P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1400194	NM_181741.4(ORC4):c.1193_1194del (p.Glu398fs)	ORC4 (E398fs +2 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1434288	NM_181741.4(ORC4):c.1186C>G (p.Gln396Glu)	ORC4 (Q312E +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 1499145	NM_181741.4(ORC4):c.1162A>G (p.Met388Val)	ORC4 (M314V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059369	NM_181741.4(ORC4):c.1151T>C (p.Leu384Ser)	ORC4 (L300S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211804	NM_181741.4(ORC4):c.1136T>C (p.Leu379Ser)	ORC4 (L379S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2822188	NM_181741.4(ORC4):c.1123-6T>C	ORC4	Single nucleotide variant (intron variant)	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 1582187	NM_181741.4(ORC4):c.1122+9_1122+10del	ORC4	Deletion (intron variant)	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 1403762	NM_181741.4(ORC4):c.1111G>A (p.Val371Ile)	ORC4 (V371I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384791	NM_181741.4(ORC4):c.1105A>T (p.Lys369Ter)	ORC4 (K285* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 436116	NM_181741.4(ORC4):c.1090G>A (p.Val364Ile)	ORC4 (V364I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1642871	NM_181741.4(ORC4):c.1080A>G (p.Lys360=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160606	NM_181741.4(ORC4):c.1068T>C (p.Phe356=)	ORC4	Single nucleotide variant (synonymous 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 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 2982514	NM_181741.4(ORC4):c.1054+14T>G	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559001	NM_181741.4(ORC4):c.1054+8G>A	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1436606	NM_181741.4(ORC4):c.1054+5G>A	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1006987	NM_181741.4(ORC4):c.1054G>A (p.Glu352Lys)	ORC4 (E268K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 729067	NM_181741.4(ORC4):c.963A>G (p.Leu321=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1603702	NM_181741.4(ORC4):c.959-15dup	ORC4	Duplication (intron variant)	not provided	GBenign
Select item 2987317	NM_181741.4(ORC4):c.959-15T>C	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 2171600	NM_181741.4(ORC4):c.958+5G>T	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1299639	NM_181741.4(ORC4):c.956A>G (p.His319Arg)	ORC4 (H235R +2 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 2	GLikely pathogenic
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 710596	NM_181741.4(ORC4):c.939G>A (p.Ser313=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2821989	NM_181741.4(ORC4):c.919C>T (p.Gln307Ter)	ORC4 (Q233* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1046162	NM_181741.4(ORC4):c.917G>C (p.Ser306Thr)	ORC4 (S222T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1018893	NM_181741.4(ORC4):c.902A>G (p.Asp301Gly)	ORC4 (D217G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 436117	NM_181741.4(ORC4):c.896C>T (p.Ala299Val)	ORC4 (A299V +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 30296	NM_181741.4(ORC4):c.870_873dup (p.Ala292fs)	ORC4 (A208fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
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 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 1606631	NM_181741.4(ORC4):c.849+20del	ORC4	Deletion (intron variant)	not provided	GLikely benign
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 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 2874815	NM_181741.4(ORC4):c.816C>A (p.Ile272=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355506	NM_181741.4(ORC4):c.812A>G (p.Asn271Ser)	ORC4 (N187S +2 more)	Single nucleotide variant (missense variant)	not provided	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 2193180	NM_181741.4(ORC4):c.767_770del (p.Leu256fs)	ORC4 (L172fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 30297	NM_181742.3(ORC4):c.(-18+1_-17-1)_(762+1_773-1)del	LOC126806366, ORC4	Deletion	Meier-Gorlin syndrome 2	GPathogenic
Select item 436119	NM_181741.4(ORC4):c.763-4T>G	ORC4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1994037	NM_181741.4(ORC4):c.763-5T>G	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 770872	NM_181741.4(ORC4):c.763-9dup	ORC4	Duplication (intron variant)	not provided	GBenign
Select item 403281	NM_181741.4(ORC4):c.763-10_763-9del	ORC4	Deletion (intron variant)	not specified	GBenign
Select item 403280	NM_181741.4(ORC4):c.763-9del	ORC4	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1630759	NM_181741.4(ORC4):c.763-16T>C	ORC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2968777	NM_181741.4(ORC4):c.763-20_763-19insA	ORC4	Insertion (intron variant)	not provided	GLikely benign
Select item 1554626	NM_181741.4(ORC4):c.762+16A>G	ORC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593712	NM_181741.4(ORC4):c.762+7del	ORC4	Deletion (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 2015096	NM_181741.4(ORC4):c.744G>A (p.Lys248=)	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 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 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 1042227	NM_181741.4(ORC4):c.702A>C (p.Leu234Phe)	ORC4 (L150F +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 436120	NM_181741.4(ORC4):c.638G>A (p.Arg213Gln)	ORC4 (R213Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1299638	NM_181741.4(ORC4):c.623C>G (p.Ser208Ter)	ORC4 (S124* +2 more)	Single nucleotide variant (nonsense)	Meier-Gorlin syndrome 2	GPathogenic
Select item 2178452	NM_181741.4(ORC4):c.612_613del (p.Arg205fs)	ORC4 (R121fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 159485	NM_181741.4(ORC4):c.604T>G (p.Leu202Val)	ORC4 (L202V +2 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 2 +2 more	GBenign/Likely benign
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 1953913	NM_181741.4(ORC4):c.588+15T>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 1440893	NM_181741.4(ORC4):c.588+5G>A	ORC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1436800	NM_181741.4(ORC4):c.584G>A (p.Arg195Lys)	ORC4 (R195K +2 more)	Single nucleotide variant (missense variant)	not provided	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 1347702	NM_181741.4(ORC4):c.537T>G (p.Ile179Met)	ORC4 (I105M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572218	NM_181741.4(ORC4):c.531T>C (p.Phe177=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906720	NM_181741.4(ORC4):c.528T>G (p.Leu176=)	ORC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050432	NM_181741.4(ORC4):c.520dup (p.Tyr174fs)	ORC4 (Y174fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
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

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