ORC6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 150687	GRCh38/hg38 16q11.2(chr16:46471685-46767956)x3	LOC130058916, LOC130058917 +7 more	Copy number gain	See cases	GLikely benign
Select item 319298	NM_018206.6(VPS35):c.-34G>A	ORC6, VPS35	Single nucleotide variant (5 prime UTR variant)	Parkinson disease 17 +2 more	GBenign/Likely benign
Select item 1252789	NC_000016.10:g.46689458A>C	ORC6	Single nucleotide variant	not provided	GBenign
Select item 260387	NM_014321.4(ORC6):c.-47G>A	ORC6, VPS35	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson Disease, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 260386	NM_014321.4(ORC6):c.-20T>C	ORC6, VPS35	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GBenign
Select item 886665	NM_014321.4(ORC6):c.-19T>C	ORC6	Single nucleotide variant (5 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 436124	NM_014321.4(ORC6):c.1A>G (p.Met1Val)	ORC6 (M1V)	Single nucleotide variant (missense variant +2 more)	Meier-Gorlin syndrome 3	GPathogenic
Select item 253272	NM_014321.4(ORC6):c.2T>C (p.Met1Thr)	ORC6 (M1T)	Single nucleotide variant (missense variant +2 more)	Meier-Gorlin syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 2497850	NC_000016.10:g.46689709G>A	VPS35, ORC6 (G2R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1447499	NM_014321.4(ORC6):c.8C>T (p.Ser3Leu)	ORC6 (S3L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1151500	NM_014321.4(ORC6):c.9G>T (p.Ser3=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963034	NM_014321.4(ORC6):c.12G>A (p.Glu4=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1675621	NM_014321.4(ORC6):c.15G>A (p.Leu5=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959648	NM_014321.4(ORC6):c.18C>T (p.Ile6=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1419064	NM_014321.4(ORC6):c.23G>A (p.Arg8His)	ORC6 (R8H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 319300	NM_014321.4(ORC6):c.23G>T (p.Arg8Leu)	ORC6 (R8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2075487	NM_014321.4(ORC6):c.26T>C (p.Leu9Pro)	ORC6 (L9P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 887920	NM_014321.4(ORC6):c.27A>G (p.Leu9=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1480928	NM_014321.4(ORC6):c.28G>T (p.Ala10Ser)	ORC6 (A10S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 887921	NM_014321.4(ORC6):c.32C>G (p.Pro11Arg)	ORC6 (P11R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1924543	NM_014321.4(ORC6):c.49G>T (p.Glu17Ter)	ORC6 (E17*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2878294	NM_014321.4(ORC6):c.54C>G (p.Pro18=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1173060	NM_014321.4(ORC6):c.65G>A (p.Arg22Lys)	ORC6 (R22K)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3	GPathogenic
Select item 2821096	NM_014321.4(ORC6):c.66-20C>T	ORC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599471	NM_014321.4(ORC6):c.66-19A>C	ORC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1173059	NM_014321.4(ORC6):c.71C>T (p.Ala24Val)	ORC6 (A24V)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3	GPathogenic
Select item 1438470	NM_014321.4(ORC6):c.92C>T (p.Ser31Phe)	ORC6 (S31F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3016525	NM_014321.4(ORC6):c.94C>A (p.Arg32=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 792875	NM_014321.4(ORC6):c.96G>A (p.Arg32=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 319301	NM_014321.4(ORC6):c.96G>C (p.Arg32=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	Meier-Gorlin syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 2039888	NM_014321.4(ORC6):c.114C>T (p.Leu38=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 436122	NM_014321.4(ORC6):c.119C>G (p.Ala40Gly)	ORC6 (A40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376809	NM_014321.4(ORC6):c.124A>T (p.Thr42Ser)	ORC6 (T42S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3303509	NM_014321.4(ORC6):c.140G>A (p.Ser47Asn)	ORC6 (S47N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1402329	NM_014321.4(ORC6):c.140G>C (p.Ser47Thr)	ORC6 (S47T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054268	NM_014321.4(ORC6):c.152_154del (p.Cys51del)	ORC6 (C51del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1529909	NM_014321.4(ORC6):c.153C>T (p.Cys51=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992099	NM_014321.4(ORC6):c.171C>G (p.Ser57=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2771623	NM_014321.4(ORC6):c.173G>A (p.Trp58Ter)	ORC6 (W58*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1495166	NM_014321.4(ORC6):c.177G>T (p.Met59Ile)	ORC6 (M59I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1009568	NM_014321.4(ORC6):c.194G>A (p.Arg65Lys)	ORC6 (R65K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2130709	NM_014321.4(ORC6):c.195+10T>G	ORC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560534	NM_014321.4(ORC6):c.196-20_196-17del	ORC6	Deletion (intron variant)	not provided	GLikely benign
Select item 3018041	NM_014321.4(ORC6):c.196-16G>C	ORC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 632252	NM_014321.4(ORC6):c.196-1G>A	ORC6	Single nucleotide variant (splice acceptor variant)	Meier-Gorlin syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 632253	NM_014321.4(ORC6):c.199del (p.Tyr67fs)	ORC6 (Y67fs)	Deletion (frameshift variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 129865	NM_014321.4(ORC6):c.207T>G (p.Ile69Met)	ORC6 (I69M)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3 +2 more	GUncertain significance
Select item 2813133	NM_014321.4(ORC6):c.228G>A (p.Lys76=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 436123	NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn)	ORC6 (Y79N)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 725631	NM_014321.4(ORC6):c.243C>T (p.Ser81=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 30655	NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer)	ORC6	Deletion (nonsense +1 more)	Meier-Gorlin syndrome 3	GPathogenic
Select item 2191285	NM_014321.4(ORC6):c.275T>C (p.Leu92Pro)	ORC6 (L92P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 736346	NM_014321.4(ORC6):c.276G>A (p.Leu92=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3206971	NM_014321.4(ORC6):c.286A>G (p.Ile96Val)	ORC6 (I96V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1502914	NM_014321.4(ORC6):c.313T>C (p.Phe105Leu)	ORC6 (F105L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3206972	NM_014321.4(ORC6):c.323T>C (p.Ile108Thr)	ORC6 (I108T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1987973	NM_014321.4(ORC6):c.324A>T (p.Ile108=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2038118	NM_014321.4(ORC6):c.339G>A (p.Met113Ile)	ORC6 (M113I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2048246	NM_014321.4(ORC6):c.340G>A (p.Ala114Thr)	ORC6 (A114T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1580779	NM_014321.4(ORC6):c.354A>G (p.Leu118=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 211807	NM_014321.4(ORC6):c.359+7G>A	ORC6	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1221166	NM_014321.4(ORC6):c.359+185A>T	ORC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260219	NM_014321.4(ORC6):c.360-197dup	ORC6	Duplication (intron variant)	not provided	GBenign
Select item 1406633	NM_014321.4(ORC6):c.360-16A>G	ORC6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 211808	NM_014321.4(ORC6):c.360-13A>G	ORC6	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 3012588	NM_014321.4(ORC6):c.360-11T>C	ORC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977909	NM_014321.4(ORC6):c.360-1G>T	ORC6	Single nucleotide variant (splice acceptor variant)	Meier-Gorlin syndrome 3	GLikely pathogenic
Select item 1485541	NM_014321.4(ORC6):c.381G>C (p.Gln127His)	ORC6 (Q127H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1431065	NM_014321.4(ORC6):c.386A>T (p.Gln129Leu)	ORC6 (Q129L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 887922	NM_014321.4(ORC6):c.390A>T (p.Gln130His)	ORC6 (Q130H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 732088	NM_014321.4(ORC6):c.390A>G (p.Gln130=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2028427	NM_014321.4(ORC6):c.396T>C (p.Asp132=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2285580	NM_014321.4(ORC6):c.409A>G (p.Arg137Gly)	ORC6 (R137G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1940717	NM_014321.4(ORC6):c.411G>A (p.Arg137=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2180535	NM_014321.4(ORC6):c.413C>T (p.Pro138Leu)	ORC6 (P138L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 319302	NM_014321.4(ORC6):c.413C>A (p.Pro138Gln)	ORC6 (P138Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 884770	NM_014321.4(ORC6):c.430G>A (p.Ala144Thr)	ORC6 (A144T)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 253273	NM_014321.4(ORC6):c.449+5G>A	ORC6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1920188	NM_014321.4(ORC6):c.449+15A>G	ORC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020578	NM_014321.4(ORC6):c.449+19A>C	ORC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618230	NM_014321.4(ORC6):c.449+19A>T	ORC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234859	NM_014321.4(ORC6):c.450-203T>C	ORC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2118614	NM_014321.4(ORC6):c.450-9G>A	ORC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033167	NM_014321.4(ORC6):c.450-4G>T	ORC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 319303	NM_014321.4(ORC6):c.450-4G>A	ORC6	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 1465537	NM_014321.4(ORC6):c.464A>G (p.Lys155Arg)	ORC6 (K155R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1568650	NM_014321.4(ORC6):c.495C>T (p.Ser165=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2251586	NM_014321.4(ORC6):c.496G>A (p.Gly166Ser)	ORC6 (G166S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 710234	NM_014321.4(ORC6):c.498T>A (p.Gly166=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2066811	NM_014321.4(ORC6):c.499G>A (p.Val167Ile)	ORC6 (V167I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2967020	NM_014321.4(ORC6):c.507dup (p.Ala170fs)	ORC6 (A170fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1982717	NM_014321.4(ORC6):c.507A>G (p.Lys169=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1975644	NM_014321.4(ORC6):c.509del (p.Ala170fs)	ORC6 (A170fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1003283	NM_014321.4(ORC6):c.521G>A (p.Arg174Gln)	ORC6 (R174Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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