"GeneDx"[submitter] AND "COG8"[gene] - ClinVar

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Items: 63

	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 422830	NM_032382.5(COG8):c.*27-8del	COG8, PDF	Deletion (intron variant)	not specified	GLikely benign
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 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 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 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 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 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 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)	not specified +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 320310	NM_032382.5(COG8):c.1620A>C (p.Leu540=)	COG8	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 508007	NM_032382.5(COG8):c.1467C>T (p.Ser489=)	COG8	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1215610	NM_032382.5(COG8):c.1414-189_1414-174del	COG8	Deletion (intron variant)	not provided	GLikely benign
Select item 1273549	NM_032382.5(COG8):c.1414-201C>T	COG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179515	NM_032382.5(COG8):c.1414-303dup	COG8	Duplication (intron variant)	not provided	GLikely benign
Select item 1296677	NM_032382.5(COG8):c.1414-285del	COG8	Deletion (intron variant)	not provided	GBenign
Select item 1224053	NM_032382.5(COG8):c.1414-296_1414-295insG	COG8	Insertion (intron variant)	not provided	GBenign
Select item 1183611	NM_032382.5(COG8):c.1413+310C>T	COG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259388	NM_032382.5(COG8):c.1413+36C>T	COG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504275	NM_032382.5(COG8):c.1396del (p.Glu466fs)	COG8 (E466fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 388256	NM_032382.5(COG8):c.1143A>G (p.Lys381=)	COG8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 886168	NM_032382.5(COG8):c.1093G>C (p.Gly365Arg)	COG8 (G365R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 285872	NM_032382.5(COG8):c.1079G>A (p.Gly360Glu)	COG8 (G360E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196568	NM_032382.5(COG8):c.1017C>T (p.Gly339=)	COG8	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 391032	NM_032382.5(COG8):c.996C>T (p.Thr332=)	COG8	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 489229	NM_032382.5(COG8):c.973C>T (p.Gln325Ter)	COG8 (Q325*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 320314	NM_032382.5(COG8):c.903C>G (p.Pro301=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 384763	NM_032382.5(COG8):c.603G>A (p.Val201=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 196567	NM_032382.5(COG8):c.597C>T (p.Asn199=)	COG8	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1250287	NM_032382.5(COG8):c.586-223T>G	COG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292132	NM_032382.5(COG8):c.585+150C>T	COG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385805	NM_032382.5(COG8):c.585+11T>C	COG8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 320317	NM_032382.5(COG8):c.585+8C>T	COG8	Single nucleotide variant (intron variant)	COG8-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 468871	NM_032382.5(COG8):c.525G>A (p.Leu175=)	COG8	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 389403	NM_032382.5(COG8):c.522C>T (p.Ala174=)	COG8	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 518007	NM_032382.5(COG8):c.513T>C (p.Tyr171=)	COG8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 967625	NM_032382.5(COG8):c.419G>A (p.Arg140Gln)	COG8 (R140Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 703036	NM_032382.5(COG8):c.386T>C (p.Val129Ala)	COG8 (V129A)	Single nucleotide variant (missense variant)	COG8-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 509061	NM_032382.5(COG8):c.378-12G>A	COG8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1236034	NM_032382.5(COG8):c.378-288T>C	COG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271846	NM_032382.5(COG8):c.377+152A>G	COG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1800936	NM_032382.5(COG8):c.304C>T (p.Arg102Cys)	COG8, LOC130059305 (R102C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 384556	NM_032382.5(COG8):c.151C>A (p.Arg51=)	COG8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 96220	NM_032382.5(COG8):c.42A>G (p.Thr14=)	COG8	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 676663	NM_032382.5(COG8):c.33C>A (p.Ala11=)	COG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 382281	NM_032382.5(COG8):c.15G>A (p.Ala5=)	COG8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 515747	NM_032382.4(COG8):c.-27A>C	COG8	Single nucleotide variant	not specified	GLikely benign
Select item 1326430	NC_000016.10:g.69339639G>T	COG8	Single nucleotide variant	not provided	GLikely benign
Select item 1187293	NM_016101.5(NIP7):c.-10A>G	COG8, LOC130059307 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1283686	NM_016101.5(NIP7):c.57-58C>T	COG8, NIP7	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 63