COG8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 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 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 147385	GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	AARS1, CLEC18A +57 more	Copy number loss	See cases	GUncertain significance
Select item 887112	NM_032382.5(COG8):c.*568G>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 320303	NM_032382.5(COG8):c.*506C>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 320304	NM_032382.5(COG8):c.*492C>T	PDF, COG8	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 888376	NM_032382.5(COG8):c.*402A>G	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 320305	NM_032382.5(COG8):c.*332A>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GBenign
Select item 320306	NM_032382.5(COG8):c.*330G>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GBenign
Select item 320307	NM_032382.5(COG8):c.*196dup	PDF, COG8	Duplication (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 2556638	NM_022341.2(PDF):c.684G>A (p.Met228Ile)	COG8, PDF (M228I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 888377	NM_032382.5(COG8):c.*73G>A	COG8, PDF (W207*)	Single nucleotide variant (nonsense +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 3210818	NM_022341.2(PDF):c.616G>C (p.Gly206Arg)	COG8, PDF (G601R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235795	NM_022341.2(PDF):c.587A>T (p.Asn196Ile)	COG8, PDF (N591I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608355	NM_022341.2(PDF):c.583C>T (p.Pro195Ser)	COG8, PDF (P195S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 422830	NM_032382.5(COG8):c.*27-8del	COG8, PDF	Deletion (intron variant)	not specified	GLikely benign
Select item 2646672	NM_022341.2(PDF):c.492C>T (p.Arg164=)	COG8, PDF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2338754	NM_022341.2(PDF):c.440C>T (p.Pro147Leu)	COG8, PDF (P147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210816	NM_022341.2(PDF):c.407C>T (p.Pro136Leu)	COG8, PDF (P136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253685	NM_022341.2(PDF):c.344A>G (p.Gln115Arg)	COG8, PDF (Q115R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1032952	NM_032382.5(COG8):c.*26+543C>T	PDF, COG8 (Q101*)	Single nucleotide variant (nonsense +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2309923	NM_022341.2(PDF):c.287C>T (p.Thr96Met)	COG8, PDF (T96M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551578	NM_022341.2(PDF):c.265G>A (p.Gly89Arg)	COG8, PDF (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210814	NM_022341.2(PDF):c.227G>A (p.Arg76His)	COG8, PDF (R76H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320437	NM_022341.2(PDF):c.217C>T (p.Pro73Ser)	COG8, PDF (P73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543780	NM_022341.2(PDF):c.184C>G (p.Pro62Ala)	COG8, PDF (P62A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210813	NM_022341.2(PDF):c.143A>G (p.Tyr48Cys)	COG8, PDF (Y48C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553258	NM_022341.2(PDF):c.122G>A (p.Gly41Asp)	COG8, PDF (G41D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210817	NM_022341.2(PDF):c.53C>T (p.Pro18Leu)	COG8, PDF (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2272264	NM_022341.2(PDF):c.53C>G (p.Pro18Arg)	COG8, PDF (P18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401256	NM_022341.2(PDF):c.35C>G (p.Pro12Arg)	COG8, PDF (P12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1236212	NM_032382.5(COG8):c.*26+273T>C	COG8, PDF (W11R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2253603	NM_022341.2(PDF):c.28C>G (p.Leu10Val)	COG8, PDF (L10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210815	NM_022341.2(PDF):c.22C>G (p.Leu8Val)	COG8, PDF (L8V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288766	NM_022341.2(PDF):c.19G>T (p.Ala7Ser)	COG8, PDF (A7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297401	NM_022341.2(PDF):c.16G>A (p.Gly6Ser)	COG8, PDF (G6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1300510	NM_032382.5(COG8):c.*26+149C>A	COG8, LOC130059304	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301205	NM_032382.5(COG8):c.*26+107C>T	COG8, LOC130059304	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 320308	NM_032382.5(COG8):c.*26+10G>T	COG8, LOC130059304	Single nucleotide variant (intron variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1098272	NM_032382.5(COG8):c.*26+5G>C	COG8, LOC130059304	Single nucleotide variant (intron variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 422264	NM_032382.5(COG8):c.11_12del	LOC130059304, COG8	Deletion (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 382587	NM_032382.5(COG8):c.1839G>A (p.Ter613=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 657168	NM_032382.5(COG8):c.1833dup (p.Pro612fs)	LOC130059304, COG8 (P612fs)	Duplication (frameshift variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 509449	NM_032382.5(COG8):c.1833G>T (p.Gly611=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 725406	NM_032382.5(COG8):c.1809G>A (p.Thr603=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032955	NM_032382.5(COG8):c.1807A>G (p.Thr603Ala)	COG8, LOC130059304 (T603A +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1971767	NM_032382.5(COG8):c.1799G>A (p.Arg600Gln)	COG8, LOC130059304 (R613Q +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2628825	NM_032382.5(COG8):c.1798C>T (p.Arg600Ter)	COG8, LOC130059304 (R600* +2 more)	Single nucleotide variant (nonsense +1 more)	COG8-related disorder	GUncertain significance
Select item 2894092	NM_032382.5(COG8):c.1794A>C (p.Gly598=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1355215	NM_032382.5(COG8):c.1793G>A (p.Gly598Glu)	COG8, LOC130059304 (G598E +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 681421	NM_032382.5(COG8):c.1785C>T (p.Cys595=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2231385	NM_032382.5(COG8):c.1778C>G (p.Pro593Arg)	COG8, LOC130059304 (P606R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1038425	NM_032382.5(COG8):c.1755G>C (p.Glu585Asp)	COG8, LOC130059304 (E632D +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 597494	NM_032382.5(COG8):c.1741C>A (p.Pro581Thr)	COG8, LOC130059304 (P581T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 698124	NM_032382.5(COG8):c.1724C>T (p.Thr575Ile)	COG8, LOC130059304 (T575I)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GBenign/Likely benign
Select item 1421986	NM_032382.5(COG8):c.1715C>A (p.Pro572His)	COG8, LOC130059304 (P572H +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2600037	NM_032382.5(COG8):c.1702C>A (p.Gln568Lys)	COG8, LOC130059304 (Q568K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3147141	NM_032382.5(COG8):c.1700A>G (p.Asp567Gly)	COG8, LOC130059304 (D580G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 320309	NM_032382.5(COG8):c.1692C>T (p.Thr564=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 3649	NM_032382.5(COG8):c.1687_1688del (p.Phe563fs)	COG8, LOC130059304 (F563fs +2 more)	Deletion (frameshift variant +1 more)	COG8-congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 1979852	NM_032382.5(COG8):c.1686T>C (p.Leu562=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 387760	NM_032382.5(COG8):c.1683G>A (p.Thr561=)	LOC130059304, COG8	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 96219	NM_032382.5(COG8):c.1682C>T (p.Thr561Met)	COG8, LOC130059304 (T561M +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 966979	NM_032382.5(COG8):c.1680_1681del (p.Glu560fs)	COG8, LOC130059304 (E607fs +2 more)	Microsatellite (frameshift variant +1 more)	COG8-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 885269	NM_032382.5(COG8):c.1680G>A (p.Glu560=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1632306	NM_032382.5(COG8):c.1666C>T (p.Leu556=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1806172	NM_032382.5(COG8):c.1643T>C (p.Ile548Thr)	COG8 (I548T +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 320310	NM_032382.5(COG8):c.1620A>C (p.Leu540=)	COG8	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 3647	NM_032382.5(COG8):c.1611C>G (p.Tyr537Ter)	COG8 (Y537* +2 more)	Single nucleotide variant (nonsense +1 more)	COG8-congenital disorder of glycosylation	GPathogenic
Select item 235232	NM_032382.5(COG8):c.1591C>T (p.Pro531Ser)	COG8 (P531S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2231384	NM_032382.5(COG8):c.1589C>G (p.Pro530Arg)	COG8 (P577R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 235266	NM_032382.5(COG8):c.1589C>T (p.Pro530Leu)	COG8 (P530L +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 885270	NM_032382.5(COG8):c.1584C>G (p.Gly528=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 932935	NM_032382.5(COG8):c.1583-1G>A	COG8 (G541S)	Single nucleotide variant (missense variant +2 more)	COG8-congenital disorder of glycosylation	GPathogenic
Select item 2726841	NM_032382.5(COG8):c.1583-6G>T	COG8 (G539V)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2194054	NM_032382.5(COG8):c.1583-6G>A	COG8 (G539E)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1301237	NM_032382.5(COG8):c.1583-46T>G	COG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326568	NM_032382.5(COG8):c.1583-124dup	COG8	Duplication (intron variant)	not provided	GLikely benign
Select item 1267163	NM_032382.5(COG8):c.1583-124C>G	COG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676109	NM_032382.5(COG8):c.1583-125C>A	COG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326612	NM_032382.5(COG8):c.1582+135_1582+136dup	COG8	Duplication (intron variant)	not provided	GLikely benign
Select item 1801207	NM_032382.5(COG8):c.1582+1G>A	COG8 (G528D)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 391369	NM_032382.5(COG8):c.1580T>G (p.Leu527Ter)	COG8 (L527*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1098271	NM_032382.5(COG8):c.1550_1556del (p.Leu517fs)	COG8 (L517fs)	Deletion (frameshift variant +1 more)	COG8-congenital disorder of glycosylation	GPathogenic
Select item 2389433	NM_032382.5(COG8):c.1552T>C (p.Phe518Leu)	COG8 (F518L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2816392	NM_032382.5(COG8):c.1551T>G (p.Leu517=)	COG8	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1384072	NM_032382.5(COG8):c.1549C>G (p.Leu517Val)	COG8 (L517V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2508063	NM_032382.5(COG8):c.1538G>C (p.Cys513Ser)	COG8 (C513S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 885271	NM_032382.5(COG8):c.1524G>A (p.Pro508=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2614123	NM_032382.5(COG8):c.1523C>T (p.Pro508Leu)	COG8 (P508L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1545023	NM_032382.5(COG8):c.1488C>A (p.Val496=)	COG8	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1112022	NM_032382.5(COG8):c.1473G>A (p.Glu491=)	COG8	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign

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