"GeneDx"[submitter] AND "COG4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 1229189	NM_015386.3(COG4):c.*85T>G	COG4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 390421	NM_015386.3(COG4):c.*7G>C	COG4	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3343183	NM_015386.3(COG4):c.2356A>G (p.Arg786Gly)	COG4 (R644G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 392502	NM_015386.3(COG4):c.2348A>G (p.Asp783Gly)	COG4 (D783G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 320362	NM_015386.3(COG4):c.2278T>C (p.Leu760=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GLikely benign
Select item 420287	NM_015386.3(COG4):c.2236-17dup	COG4	Duplication (intron variant)	not specified	GLikely benign
Select item 381407	NM_015386.3(COG4):c.2236-16A>G	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation +2 more	GBenign
Select item 392503	NM_015386.3(COG4):c.2225A>G (p.Asn742Ser)	COG4 (N742S +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1309270	NM_015386.3(COG4):c.2216C>T (p.Thr739Ile)	COG4 (T597I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3652	NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)	COG4 (R733W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 320365	NM_015386.3(COG4):c.2163G>A (p.Thr721=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +2 more	GBenign
Select item 3373227	NM_015386.3(COG4):c.2155C>G (p.Leu719Val)	COG4 (L577V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 128810	NM_015386.3(COG4):c.2142G>A (p.Ser714=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1268908	NM_015386.3(COG4):c.2106+67A>C	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804253	NM_015386.3(COG4):c.2095A>G (p.Thr699Ala)	COG4 (T557A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 373675	NM_015386.3(COG4):c.2034C>A (p.Ser678Arg)	COG4 (S678R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 800159	NM_015386.3(COG4):c.2030A>G (p.Asp677Gly)	COG4 (D535G +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 507008	NM_015386.3(COG4):c.2019G>A (p.Pro673=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1804352	NM_015386.3(COG4):c.1948G>C (p.Asp650His)	COG4 (D508H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430188	NM_015386.3(COG4):c.1948G>A (p.Asp650Asn)	COG4 (D650N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 512464	NM_015386.3(COG4):c.1947C>T (p.Asn649=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1002699	NM_015386.3(COG4):c.1931A>G (p.Asn644Ser)	COG4 (N502S +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 719725	NM_015386.3(COG4):c.1927T>C (p.Phe643Leu)	COG4 (F501L +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1291004	NM_015386.3(COG4):c.1921-31C>T	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188339	NM_015386.3(COG4):c.1921-80C>T	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277782	NM_015386.3(COG4):c.1921-150G>C	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240636	NM_015386.3(COG4):c.1920+255_1920+260del	COG4	Deletion (intron variant)	not provided	GBenign
Select item 1302836	NM_015386.3(COG4):c.1920+242C>T	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264082	NM_015386.3(COG4):c.1920+154A>G	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216055	NM_015386.3(COG4):c.1900G>A (p.Val634Ile)	COG4 (V492I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 599648	NM_015386.3(COG4):c.1840G>T (p.Glu614Ter)	COG4 (E614* +2 more)	Single nucleotide variant (nonsense +1 more)	COG4-congenital disorder of glycosylation +2 more	GPathogenic
Select item 511934	NM_015386.3(COG4):c.1828-10C>A	COG4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1292097	NM_015386.3(COG4):c.1827+115C>T	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 320369	NM_015386.3(COG4):c.1827+12G>C	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation +1 more	GLikely benign
Select item 419327	NM_015386.3(COG4):c.1809del (p.Lys603fs)	COG4 (K461fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 423833	NM_015386.3(COG4):c.1795G>A (p.Ala599Thr)	COG4 (A599T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95696	NM_015386.3(COG4):c.1759C>A (p.Gln587Lys)	COG4 (Q587K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1192062	NM_015386.3(COG4):c.1711-329C>G	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380010	NM_015386.3(COG4):c.1710+17C>G	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation +2 more	GBenign
Select item 389636	NM_015386.3(COG4):c.1710+14T>C	COG4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 523959	NM_015386.3(COG4):c.1654_1655del (p.Leu552fs)	COG4 (L410fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1219676	NM_015386.3(COG4):c.1648-144G>A	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254838	NM_015386.3(COG4):c.1647+49A>G	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681402	NM_015386.3(COG4):c.1647+20C>T	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation +1 more	GLikely benign
Select item 3364567	NM_015386.3(COG4):c.1647+5G>T	COG4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 320371	NM_015386.3(COG4):c.1605A>C (p.Thr535=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 384207	NM_015386.3(COG4):c.1560C>T (p.Ala520=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 449730	NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)	COG4 (G516R +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +3 more	GPathogenic
Select item 1315246	NM_015386.3(COG4):c.1517C>T (p.Pro506Leu)	COG4 (P364L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420563	NM_015386.3(COG4):c.1482-8dup	COG4	Duplication (intron variant)	not specified	GLikely benign
Select item 431907	NM_015386.3(COG4):c.1482-3C>G	COG4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1179913	NM_015386.3(COG4):c.1482-25T>C	COG4	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type +2 more	GBenign
Select item 1237767	NM_015386.3(COG4):c.1482-50G>A	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272158	NM_015386.3(COG4):c.1482-213C>T	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310464	NM_015386.3(COG4):c.1468G>A (p.Glu490Lys)	COG4 (E348K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430266	NM_015386.3(COG4):c.1415G>A (p.Ser472Asn)	COG4 (S472N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1219310	NM_015386.3(COG4):c.1403G>A (p.Arg468Gln)	COG4 (R326Q +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-related disorder +2 more	GUncertain significance
Select item 1294351	NM_015386.3(COG4):c.1315-76G>A	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 803270	NM_015386.3(COG4):c.1314+86A>C	COG4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1321820	NM_015386.3(COG4):c.1314+38C>T	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668662	NM_015386.3(COG4):c.1314+14C>T	COG4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1321674	NM_015386.3(COG4):c.1196-123T>C	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290169	NM_015386.3(COG4):c.1196-217_1196-216del	COG4	Deletion (intron variant)	not provided	GBenign
Select item 1214139	NM_015386.3(COG4):c.1195+275T>A	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 320375	NM_015386.3(COG4):c.1195+8C>T	COG4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 384557	NM_015386.3(COG4):c.1167C>T (p.Asp389=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 3364773	NM_015386.3(COG4):c.1118A>T (p.Tyr373Phe)	COG4 (Y231F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 518142	NM_015386.3(COG4):c.1074C>T (p.Pro358=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 761055	NM_015386.3(COG4):c.1072C>A (p.Pro358Thr)	COG4 (P216T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1292320	NM_015386.3(COG4):c.1061+149A>C	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205403	NM_015386.3(COG4):c.1061+75G>C	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512660	NM_015386.3(COG4):c.1053C>T (p.Ile351=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 320376	NM_015386.3(COG4):c.1017G>A (p.Gln339=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1222610	NM_015386.3(COG4):c.1003-30G>C	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186902	NM_015386.3(COG4):c.1002+51C>T	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292268	NM_015386.3(COG4):c.1002+23A>G	COG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2506764	NM_015386.3(COG4):c.978C>G (p.Ile326Met)	COG4 (I184M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 383649	NM_015386.3(COG4):c.897G>A (p.Gly299=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1723716	NM_015386.3(COG4):c.854G>A (p.Arg285His)	COG4 (R143H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 387983	NM_015386.3(COG4):c.845-12C>G	COG4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 380088	NM_015386.3(COG4):c.845-18T>C	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 1215453	NM_015386.3(COG4):c.845-88C>T	COG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449595	NM_015386.3(COG4):c.844+2T>A	COG4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2446151	NM_015386.3(COG4):c.844+1G>A	COG4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 450559	NM_015386.3(COG4):c.826C>T (p.Leu276Phe)	COG4 (L276F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423834	NM_015386.3(COG4):c.797G>A (p.Arg266Gln)	COG4 (R266Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 516769	NM_015386.3(COG4):c.763C>T (p.Leu255=)	COG4	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 320377	NM_015386.3(COG4):c.739-9C>G	COG4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1226522	NM_015386.3(COG4):c.738+208_738+209insT	COG4	Insertion (intron variant)	not provided	GBenign
Select item 1806816	NM_015386.3(COG4):c.727C>T (p.Leu243Phe)	COG4 (L101F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580671	NM_015386.3(COG4):c.665T>C (p.Phe222Ser)	COG4 (F218S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 95699	NM_015386.3(COG4):c.646C>T (p.Leu216=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +3 more	GBenign
Select item 2574215	NM_015386.3(COG4):c.629C>T (p.Ala210Val)	COG4 (A206V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430187	NM_015386.3(COG4):c.599A>G (p.Lys200Arg)	COG4 (K200R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 95698	NM_015386.3(COG4):c.592C>T (p.Arg198Cys)	COG4 (R198C +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +2 more	GLikely benign
Select item 374500	NM_015386.3(COG4):c.558T>C (p.Asp186=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation +2 more	GLikely benign
Select item 1291266	NM_015386.3(COG4):c.545-61G>A	COG4	Single nucleotide variant (intron variant)	not provided	GBenign

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