"Illumina Laboratory Services, Illumina"[submitter] AND "COG1"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 324952	NM_018714.2(COG1):c.-19G>C	COG1, LOC130061576	Single nucleotide variant	Congenital disorder of glycosylation	GUncertain significance
Select item 324953	NM_018714.2(COG1):c.-18G>T	COG1, LOC130061576	Single nucleotide variant	Congenital disorder of glycosylation	GUncertain significance
Select item 798232	NM_018714.3(COG1):c.20C>T (p.Ser7Leu)	COG1, LOC130061576 (S7L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 324954	NM_018714.3(COG1):c.26C>T (p.Ala9Val)	COG1, LOC130061576 (A9V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324955	NM_018714.3(COG1):c.58G>C (p.Ala20Pro)	COG1, LOC130061576 (A20P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 324956	NM_018714.3(COG1):c.87G>C (p.Glu29Asp)	LOC130061576, COG1 (E29D)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324957	NM_018714.3(COG1):c.200G>T (p.Gly67Val)	COG1, LOC130061576 (G67V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324958	NM_018714.3(COG1):c.265C>T (p.Arg89Cys)	COG1 (R89C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 324959	NM_018714.3(COG1):c.303G>A (p.Pro101=)	COG1, LOC130061577	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324960	NM_018714.3(COG1):c.315+8C>T	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 892366	NM_018714.3(COG1):c.315+10C>G	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 95917	NM_018714.3(COG1):c.333G>A (p.Gln111=)	COG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 892367	NM_018714.3(COG1):c.384G>A (p.Pro128=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 95918	NM_018714.3(COG1):c.401C>T (p.Ser134Leu)	COG1 (S134L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +4 more	GConflicting classifications of pathogenicity
Select item 324961	NM_018714.3(COG1):c.522T>C (p.Pro174=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GBenign/Likely benign
Select item 376973	NM_018714.3(COG1):c.529A>G (p.Ile177Val)	COG1 (I177V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 324962	NM_018714.3(COG1):c.542C>T (p.Ala181Val)	COG1 (A181V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95919	NM_018714.3(COG1):c.543A>G (p.Ala181=)	COG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 324963	NM_018714.3(COG1):c.560+15C>T	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 888972	NM_018714.3(COG1):c.733C>T (p.Pro245Ser)	COG1 (P245S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 888973	NM_018714.3(COG1):c.791C>T (p.Thr264Ile)	COG1 (T264I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 324964	NM_018714.3(COG1):c.838C>A (p.Leu280Met)	COG1 (L280M)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 95920	NM_018714.3(COG1):c.903G>C (p.Gln301His)	COG1 (Q301H)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 324965	NM_018714.3(COG1):c.967C>A (p.His323Asn)	COG1, LOC126862634 (H323N)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324966	NM_018714.3(COG1):c.1011C>G (p.Thr337=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 95910	NM_018714.3(COG1):c.1049C>T (p.Thr350Met)	COG1, LOC126862634 (T350M)	Single nucleotide variant (missense variant)	COG1-related condition +3 more	GBenign/Likely benign
Select item 218759	NM_018714.3(COG1):c.1117G>A (p.Val373Met)	COG1, LOC126862634 (V373M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 889656	NM_018714.3(COG1):c.1132G>C (p.Gly378Arg)	COG1, LOC126862634 (G378R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 324967	NM_018714.3(COG1):c.1157T>C (p.Met386Thr)	COG1, LOC126862634 (M386T)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
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 324968	NM_018714.3(COG1):c.1230G>A (p.Pro410=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 889657	NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)	COG1, LOC126862634 (E415Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 324969	NM_018714.3(COG1):c.1282-3T>C	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 324970	NM_018714.3(COG1):c.1318A>G (p.Ser440Gly)	COG1 (S440G)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 95912	NM_018714.3(COG1):c.1357G>C (p.Glu453Gln)	COG1 (E453Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 95913	NM_018714.3(COG1):c.1473C>T (p.Ser491=)	COG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 891220	NM_018714.3(COG1):c.1480A>G (p.Asn494Asp)	COG1 (N494D)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 891221	NM_018714.3(COG1):c.1621T>A (p.Ser541Thr)	COG1 (S541T)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 891222	NM_018714.3(COG1):c.1689G>A (p.Ala563=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 891223	NM_018714.3(COG1):c.1695C>T (p.Thr565=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 252724	NM_018714.3(COG1):c.1712G>A (p.Arg571Gln)	COG1 (R571Q)	Single nucleotide variant (missense variant)	COG1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 891224	NM_018714.3(COG1):c.1722C>T (p.Ser574=)	COG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892409	NM_018714.3(COG1):c.1750T>C (p.Cys584Arg)	COG1 (C584R)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 892410	NM_018714.3(COG1):c.1757G>A (p.Arg586Gln)	COG1 (R586Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 892411	NM_018714.3(COG1):c.1782G>C (p.Glu594Asp)	COG1 (E594D)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 95914	NM_018714.3(COG1):c.1782G>A (p.Glu594=)	COG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 892412	NM_018714.3(COG1):c.1784G>T (p.Gly595Val)	COG1 (G595V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 892413	NM_018714.3(COG1):c.1890G>A (p.Gln630=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 324971	NM_018714.3(COG1):c.2304A>G (p.Thr768=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 784701	NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)	COG1 (E789K)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 889029	NM_018714.3(COG1):c.2482A>G (p.Lys828Glu)	COG1 (K828E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 889030	NM_018714.3(COG1):c.2485A>C (p.Ser829Arg)	COG1 (S829R)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 788131	NM_018714.3(COG1):c.2511-5C>G	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 889031	NM_018714.3(COG1):c.2597A>G (p.His866Arg)	COG1 (H866R)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324972	NM_018714.3(COG1):c.2605G>A (p.Val869Met)	COG1 (V869M)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 889032	NM_018714.3(COG1):c.2617T>G (p.Ser873Ala)	COG1 (S873A)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324973	NM_018714.3(COG1):c.2619+11T>A	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 324974	NM_018714.3(COG1):c.2620-10T>G	COG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 631783	NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs)	COG1 (G877fs)	Duplication (frameshift variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324975	NM_018714.3(COG1):c.2666G>A (p.Arg889Gln)	COG1 (R889Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 784702	NM_018714.3(COG1):c.2682C>T (p.Asn894=)	COG1	Single nucleotide variant (synonymous variant)	COG1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 324976	NM_018714.3(COG1):c.2752A>G (p.Met918Val)	COG1 (M918V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 631784	NM_018714.3(COG1):c.2791G>T (p.Glu931Ter)	COG1 (E931*)	Single nucleotide variant (nonsense)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 324977	NM_001098832.2(VCF1):c.*1228G>A	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 889723	NM_018714.3(COG1):c.2808T>C (p.Val936=)	COG1, FAM104A	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
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 324978	NM_018714.3(COG1):c.2900C>G (p.Pro967Arg)	COG1, VCF1 (P967R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 889724	NM_001098832.2(VCF1):c.*1037G>A	COG1, VCF1	Single nucleotide variant (3 prime UTR variant)	COG1 congenital disorder of glycosylation	GUncertain significance

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Items: 69