COG1[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 295

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2585042	NM_018714.3(COG1):c.218C>A (p.Ala73Asp)	COG1 (A73D)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2224820	NM_018714.3(COG1):c.220G>C (p.Val74Leu)	COG1 (V74L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648173	NM_018714.3(COG1):c.252C>T (p.Asp84=)	COG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028309	NM_018714.3(COG1):c.254dup (p.Tyr86fs)	COG1 (Y86fs)	Duplication (frameshift variant)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 1636696	NM_018714.3(COG1):c.258C>T (p.Tyr86=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1557890	NM_018714.3(COG1):c.261C>T (p.Cys87=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 324958	NM_018714.3(COG1):c.265C>T (p.Arg89Cys)	COG1 (R89C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1231416	NM_018714.3(COG1):c.316-178C>T	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2994332	NM_018714.3(COG1):c.316-9C>T	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2918043	NM_018714.3(COG1):c.316-6C>T	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2415564	NM_018714.3(COG1):c.327A>G (p.Pro109=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2397259	NM_018714.3(COG1):c.329C>T (p.Ser110Phe)	COG1 (S110F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1957672	NM_018714.3(COG1):c.334_336del (p.Glu112del)	COG1 (E112del)	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
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 2509668	NM_018714.3(COG1):c.383C>T (p.Pro128Leu)	COG1 (P128L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1371758	NM_018714.3(COG1):c.394T>C (p.Trp132Arg)	COG1 (W132R)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 95918	NM_018714.3(COG1):c.401C>T (p.Ser134Leu)	COG1 (S134L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 717484	NM_018714.3(COG1):c.402G>A (p.Ser134=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2066407	NM_018714.3(COG1):c.403A>T (p.Met135Leu)	COG1 (M135L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2037246	NM_018714.3(COG1):c.423C>G (p.Leu141=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1980075	NM_018714.3(COG1):c.423C>T (p.Leu141=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2918389	NM_018714.3(COG1):c.426C>T (p.His142=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1008127	NM_018714.3(COG1):c.427G>A (p.Ala143Thr)	COG1 (A143T)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 3268453	NM_018714.3(COG1):c.430A>C (p.Thr144Pro)	COG1 (T144P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2146689	NM_018714.3(COG1):c.448T>A (p.Cys150Ser)	COG1 (C150S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 3268460	NM_018714.3(COG1):c.454C>T (p.His152Tyr)	COG1 (H152Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791651	NM_018714.3(COG1):c.466C>T (p.Leu156=)	COG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1026651	NM_018714.3(COG1):c.494G>A (p.Arg165Gln)	COG1 (R165Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 740233	NM_018714.3(COG1):c.504C>T (p.Pro168=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1393385	NM_018714.3(COG1):c.505G>A (p.Val169Ile)	COG1 (V169I)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1464801	NM_018714.3(COG1):c.509T>C (p.Leu170Pro)	COG1 (L170P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2117556	NM_018714.3(COG1):c.510C>T (p.Leu170=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2047623	NM_018714.3(COG1):c.511T>C (p.Ser171Pro)	COG1 (S171P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2186615	NM_018714.3(COG1):c.514C>T (p.Arg172Trp)	COG1 (R172W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
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)	COG1 congenital disorder of glycosylation +1 more	GBenign/Likely benign
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 3147077	NM_018714.3(COG1):c.539T>A (p.Val180Glu)	COG1 (V180E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 968435	NM_018714.3(COG1):c.542_543inv (p.Ala181Val)	COG1 (A181V)	Inversion (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 324962	NM_018714.3(COG1):c.542C>T (p.Ala181Val)	COG1 (A181V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
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 1148542	NM_018714.3(COG1):c.546C>T (p.Ala182=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1654309	NM_018714.3(COG1):c.549C>T (p.Ala183=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2749486	NM_018714.3(COG1):c.552C>T (p.Ser184=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2440182	NM_018714.3(COG1):c.559C>T (p.Arg187Trp)	COG1 (R187W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2420783	NM_018714.3(COG1):c.560G>A (p.Arg187Gln)	COG1 (R187Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2710775	NM_018714.3(COG1):c.560+8G>A	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
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 2978235	NM_018714.3(COG1):c.560+16G>A	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1984048	NM_018714.3(COG1):c.560+18A>C	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1294338	NM_018714.3(COG1):c.560+65C>T	COG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2079078	NM_018714.3(COG1):c.561-11_561-9del	COG1	Microsatellite (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2096978	NM_018714.3(COG1):c.561-6T>G	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1561646	NM_018714.3(COG1):c.561-6T>C	COG1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2098246	NM_018714.3(COG1):c.561-1G>A	COG1	Single nucleotide variant (splice acceptor variant)	COG1 congenital disorder of glycosylation	GLikely pathogenic
Select item 2206938	NM_018714.3(COG1):c.565A>C (p.Thr189Pro)	COG1 (T189P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385347	NM_018714.3(COG1):c.565A>G (p.Thr189Ala)	COG1 (T189A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3268454	NM_018714.3(COG1):c.566C>T (p.Thr189Ile)	COG1 (T189I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2911593	NM_018714.3(COG1):c.573G>T (p.Leu191=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1531960	NM_018714.3(COG1):c.575A>C (p.His192Pro)	COG1 (H192P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 3147078	NM_018714.3(COG1):c.588G>A (p.Met196Ile)	COG1 (M196I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2870715	NM_018714.3(COG1):c.599G>C (p.Cys200Ser)	COG1 (C200S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1421187	NM_018714.3(COG1):c.599G>A (p.Cys200Tyr)	COG1 (C200Y)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 706685	NM_018714.3(COG1):c.613G>A (p.Asp205Asn)	COG1 (D205N)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1978223	NM_018714.3(COG1):c.622G>A (p.Val208Met)	COG1 (V208M)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2157338	NM_018714.3(COG1):c.626C>T (p.Ala209Val)	COG1 (A209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2055821	NM_018714.3(COG1):c.628G>A (p.Glu210Lys)	COG1 (E210K)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 500876	NM_018714.3(COG1):c.628G>C (p.Glu210Gln)	COG1 (E210Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3268451	NM_018714.3(COG1):c.640T>C (p.Ser214Pro)	COG1 (S214P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147079	NM_018714.3(COG1):c.643A>C (p.Ile215Leu)	COG1 (I215L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2105181	NM_018714.3(COG1):c.649C>G (p.Leu217Val)	COG1 (L217V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 196490	NM_018714.3(COG1):c.655G>C (p.Glu219Gln)	COG1 (E219Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1033908	NM_018714.3(COG1):c.671G>A (p.Arg224His)	COG1 (R224H)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2047943	NM_018714.3(COG1):c.701G>A (p.Arg234Lys)	COG1 (R234K)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1086926	NM_018714.3(COG1):c.705G>A (p.Lys235=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 596365	NM_018714.3(COG1):c.728A>G (p.Asn243Ser)	COG1 (N243S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
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 1980881	NM_018714.3(COG1):c.742+14C>G	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 166915	NM_018714.3(COG1):c.743-10C>G	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 3017593	NM_018714.3(COG1):c.743-4T>C	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2176180	NM_018714.3(COG1):c.750T>C (p.Gly250=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 235502	NM_018714.3(COG1):c.775G>T (p.Val259Leu)	COG1 (V259L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 2070977	NM_018714.3(COG1):c.810T>C (p.His270=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 794231	NM_018714.3(COG1):c.822C>T (p.Tyr274=)	COG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388838	NM_018714.3(COG1):c.828G>T (p.Leu276Phe)	COG1 (L276F)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 3268459	NM_018714.3(COG1):c.830C>A (p.Pro277Gln)	COG1 (P277Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180778	NM_018714.3(COG1):c.833_835del (p.Glu278del)	COG1 (E278del)	Deletion (inframe_deletion)	COG1 congenital disorder of glycosylation	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 1448895	NM_018714.3(COG1):c.847G>A (p.Asp283Asn)	COG1 (D283N)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2104166	NM_018714.3(COG1):c.850C>T (p.Pro284Ser)	COG1 (P284S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	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 +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3