"GeneDx"[submitter] AND "COG1"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152856	GRCh38/hg38 17q25.1(chr17:73031361-73264388)x3	C17orf80, COG1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1238916	NC_000017.11:g.73192719G>A	COG1	Single nucleotide variant	not provided	GBenign
Select item 1706748	NC_000017.11:g.73192832_73192883del	COG1	Deletion	not provided	GLikely benign
Select item 1286775	NC_000017.11:g.73192840_73192907del	COG1	Deletion	not provided	GBenign
Select item 1271169	NC_000017.11:g.73192834_73192854del	COG1	Deletion	not provided	GBenign
Select item 1334330	NC_000017.11:g.73192834G>C	COG1	Single nucleotide variant	not provided	GBenign
Select item 1706930	NC_000017.11:g.73192846C>G	COG1	Single nucleotide variant	not provided	GLikely benign
Select item 1229968	NC_000017.11:g.73192858_73192938del	COG1	Deletion	not provided	GBenign
Select item 1229757	NC_000017.11:g.73193020_73193021dup	COG1, LOC130061576	Duplication	not provided	GBenign
Select item 324951	NM_018714.2(COG1):c.-27A>G	COG1, LOC130061576	Single nucleotide variant	COG1 congenital disorder of glycosylation +2 more	GBenign
Select item 324955	NM_018714.3(COG1):c.58G>C (p.Ala20Pro)	COG1, LOC130061576 (A20P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1231416	NM_018714.3(COG1):c.316-178C>T	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95917	NM_018714.3(COG1):c.333G>A (p.Gln111=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation +2 more	GBenign
Select item 1311084	NM_018714.3(COG1):c.533G>A (p.Arg178Gln)	COG1 (R178Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95919	NM_018714.3(COG1):c.543A>G (p.Ala181=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation +2 more	GBenign
Select item 1294338	NM_018714.3(COG1):c.560+65C>T	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242976	NM_018714.3(COG1):c.913+55C>T	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183932	NM_018714.3(COG1):c.913+59G>A	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266219	NM_018714.3(COG1):c.913+98G>A	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240514	NM_018714.3(COG1):c.914-171T>C	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180367	NM_018714.3(COG1):c.914-55C>T	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2461696	NM_018714.3(COG1):c.967C>T (p.His323Tyr)	COG1, LOC126862634 (H323Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95910	NM_018714.3(COG1):c.1049C>T (p.Thr350Met)	COG1, LOC126862634 (T350M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1240638	NM_018714.3(COG1):c.1070+137C>T	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273933	NM_018714.3(COG1):c.1070+199A>G	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294339	NM_018714.3(COG1):c.1071-141G>A	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95911	NM_018714.3(COG1):c.1175A>G (p.Asn392Ser)	COG1, LOC126862634 (N392S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +2 more	GBenign
Select item 1249591	NM_018714.3(COG1):c.1281+80G>A	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257182	NM_018714.3(COG1):c.1281+162C>T	COG1, LOC126862634	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217322	NM_018714.3(COG1):c.1282-48T>C	COG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 95912	NM_018714.3(COG1):c.1357G>C (p.Glu453Gln)	COG1 (E453Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +2 more	GBenign
Select item 95913	NM_018714.3(COG1):c.1473C>T (p.Ser491=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation +2 more	GBenign
Select item 450372	NM_018714.3(COG1):c.1580T>C (p.Val527Ala)	COG1 (V527A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95914	NM_018714.3(COG1):c.1782G>A (p.Glu594=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation +2 more	GBenign
Select item 452106	NM_018714.3(COG1):c.1823del (p.Leu608fs)	COG1 (L608fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1279100	NM_018714.3(COG1):c.2073+292A>G	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450371	NM_018714.3(COG1):c.2084_2085insCCTGGTAATAAAATGAC (p.His695_Gly696insLeuValIleLysTer)	COG1	Insertion (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1706893	NM_018714.3(COG1):c.2221-209C>T	COG1, LOC125316790	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1355015	NM_018714.3(COG1):c.2222C>T (p.Pro741Leu)	COG1, LOC125316790 (P741L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 95916	NM_018714.3(COG1):c.2383-17T>C	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation +2 more	GBenign
Select item 1302774	NM_018714.3(COG1):c.2510+112G>A	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294340	NM_018714.3(COG1):c.2510+137G>A	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262621	NM_018714.3(COG1):c.2511-194_2511-193insA	COG1	Insertion (intron variant)	not provided	GBenign
Select item 1256776	NM_018714.3(COG1):c.2619+30G>A	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257004	NM_018714.3(COG1):c.2620-129T>C	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 803463	NM_018714.3(COG1):c.2665dup (p.Arg889fs)	COG1 (R889fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1187366	NM_018714.3(COG1):c.2729+28G>A	COG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 471235	NM_018714.3(COG1):c.2791G>A (p.Glu931Lys)	COG1 (E931K)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1329545	NM_018714.3(COG1):c.2805+39C>T	COG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183906	NM_018714.3(COG1):c.2806-170C>T	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 324977	NM_018714.3(COG1):c.2806-13C>T	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 594850	NM_018714.3(COG1):c.2816dup (p.Ala940fs)	COG1, VCF1 (A940fs)	Duplication (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 445765	NM_018714.3(COG1):c.2836G>A (p.Asp946Asn)	COG1, VCF1 (D946N)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance

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Items: 53