9382[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
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	not provided +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 1937474	NM_018714.3(COG1):c.1A>G (p.Met1Val)	COG1, LOC130061576 (M1V)	Single nucleotide variant (missense variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2550093	NM_018714.3(COG1):c.4G>A (p.Ala2Thr)	COG1, LOC130061576 (A2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1596364	NM_018714.3(COG1):c.9C>T (p.Thr3=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2247535	NM_018714.3(COG1):c.11C>G (p.Ala4Gly)	COG1, LOC130061576 (A4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3147073	NM_018714.3(COG1):c.25G>A (p.Ala9Thr)	COG1, LOC130061576 (A9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 193397	NM_018714.3(COG1):c.34C>T (p.Arg12Trp)	COG1, LOC130061576 (R12W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 3147075	NM_018714.3(COG1):c.43C>A (p.Leu15Met)	COG1, LOC130061576 (L15M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431823	NM_018714.3(COG1):c.47G>T (p.Arg16Leu)	COG1, LOC130061576 (R16L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 3147076	NM_018714.3(COG1):c.50A>C (p.Asp17Ala)	COG1, LOC130061576 (D17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762743	NM_018714.3(COG1):c.57G>T (p.Ala19=)	LOC130061576, COG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1355028	NM_018714.3(COG1):c.79G>T (p.Ala27Ser)	COG1, LOC130061576 (A27S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 538566	NM_018714.3(COG1):c.85G>A (p.Glu29Lys)	COG1, LOC130061576 (E29K)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
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 705432	NM_018714.3(COG1):c.96G>A (p.Gly32=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation +1 more	GLikely benign
Select item 760421	NM_018714.3(COG1):c.105C>G (p.Arg35=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2700410	NM_018714.3(COG1):c.117C>T (p.Ala39=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1957930	NM_018714.3(COG1):c.125A>C (p.Glu42Ala)	LOC130061576, COG1 (E42A)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1613752	NM_018714.3(COG1):c.126G>A (p.Glu42=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 1993367	NM_018714.3(COG1):c.148C>T (p.Gln50Ter)	COG1, LOC130061576 (Q50*)	Single nucleotide variant (nonsense)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 376890	NM_018714.3(COG1):c.153G>A (p.Met51Ile)	COG1, LOC130061576 (M51I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2191469	NM_018714.3(COG1):c.163C>T (p.Arg55Trp)	COG1, LOC130061576 (R55W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1413879	NM_018714.3(COG1):c.164G>C (p.Arg55Pro)	COG1, LOC130061576 (R55P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 3268462	NM_018714.3(COG1):c.179T>G (p.Ile60Ser)	COG1, LOC130061576 (I60S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2144907	NM_018714.3(COG1):c.180C>G (p.Ile60Met)	COG1, LOC130061576 (I60M)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1932124	NM_018714.3(COG1):c.189C>A (p.Ala63=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2558187	NM_018714.3(COG1):c.190G>A (p.Asp64Asn)	COG1, LOC130061576 (D64N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2985761	NM_018714.3(COG1):c.204G>A (p.Gln68=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
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 2122608	NM_018714.3(COG1):c.272G>T (p.Arg91Leu)	COG1, LOC130061577 (R91L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1092702	NM_018714.3(COG1):c.273C>G (p.Arg91=)	COG1, LOC130061577	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
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 1507917	NM_018714.3(COG1):c.305G>C (p.Arg102Pro)	COG1, LOC130061577 (R102P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2413209	NM_018714.3(COG1):c.308C>T (p.Ala103Val)	COG1, LOC130061577 (A103V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 1446478	NM_018714.3(COG1):c.311A>G (p.Gln104Arg)	COG1, LOC130061577 (Q104R)	Single nucleotide variant (missense 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 congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 2011076	NM_018714.3(COG1):c.315+9C>G	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
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 2729617	NM_018714.3(COG1):c.315+18C>T	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
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)	not specified +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

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