57511[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 1236626	NC_000013.11:g.39655283C>T	COG6	Single nucleotide variant	not provided	GBenign
Select item 1243601	NC_000013.11:g.39655431A>T	COG6	Single nucleotide variant	not provided	GBenign
Select item 1290099	NC_000013.11:g.39655448C>T	COG6	Single nucleotide variant	not provided	GBenign
Select item 1282595	NC_000013.11:g.39655587A>G	COG6	Single nucleotide variant	not provided	GBenign
Select item 1243843	NC_000013.11:g.39655607C>T	COG6	Single nucleotide variant	not provided	GBenign
Select item 312124	NM_020751.2(COG6):c.-67A>T	COG6	Single nucleotide variant (non-coding transcript variant)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 312125	NM_020751.3(COG6):c.-53T>G	COG6	Single nucleotide variant (5 prime UTR variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 881865	NM_020751.3(COG6):c.-50G>A	COG6	Single nucleotide variant (5 prime UTR variant +1 more)	COG6-congenital disorder of glycosylation	GUncertain significance
Select item 883031	NM_020751.3(COG6):c.-44C>G	COG6	Single nucleotide variant (5 prime UTR variant +1 more)	COG6-congenital disorder of glycosylation	GUncertain significance
Select item 669176	NM_020751.3(COG6):c.-43C>T	COG6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 510485	NM_020751.3(COG6):c.-41G>C	COG6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 193435	NM_020751.3(COG6):c.-17dup	COG6	Duplication (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 312126	NM_020751.3(COG6):c.-21_-20insC	COG6	Insertion (5 prime UTR variant +1 more)	Congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 312127	NM_020751.3(COG6):c.-10G>C	COG6	Single nucleotide variant (5 prime UTR variant +1 more)	COG6-congenital disorder of glycosylation	GUncertain significance
Select item 487579	NM_020751.3(COG6):c.1A>G (p.Met1Val)	COG6 (M1V)	Single nucleotide variant (missense variant +2 more)	COG6-congenital disorder of glycosylation	GPathogenic
Select item 3147128	NM_020751.3(COG6):c.7G>C (p.Glu3Gln)	COG6 (E3Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1011213	NM_020751.3(COG6):c.9G>C (p.Glu3Asp)	COG6 (E3D)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 312128	NM_020751.3(COG6):c.12C>T (p.Gly4=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation	GUncertain significance
Select item 3268488	NM_020751.3(COG6):c.16G>A (p.Gly6Arg)	COG6 (G6R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2024219	NM_020751.3(COG6):c.24G>A (p.Val8=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1473924	NM_020751.3(COG6):c.26T>A (p.Val9Asp)	COG6 (V9D)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 193436	NM_020751.3(COG6):c.28G>A (p.Ala10Thr)	COG6 (A10T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 2405778	NM_020751.3(COG6):c.32T>A (p.Val11Glu)	COG6 (V11E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405779	NM_020751.3(COG6):c.34T>A (p.Ser12Thr)	COG6 (S12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268486	NM_020751.3(COG6):c.35C>G (p.Ser12Cys)	COG6 (S12C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 312129	NM_020751.3(COG6):c.37G>A (p.Ala13Thr)	COG6 (A13T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2327426	NM_020751.3(COG6):c.43G>A (p.Gly15Arg)	COG6 (G15R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1509139	NM_020751.3(COG6):c.53A>G (p.Asn18Ser)	COG6 (N18S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 473145	NM_020751.3(COG6):c.65A>G (p.Asn22Ser)	COG6 (N22S)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GLikely benign
Select item 312130	NM_020751.3(COG6):c.69G>A (p.Gly23=)	COG6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1386476	NM_020751.3(COG6):c.70G>T (p.Ala24Ser)	COG6 (A24S)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 3147129	NM_020751.3(COG6):c.80C>T (p.Thr27Ile)	COG6 (T27I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1424207	NM_020751.3(COG6):c.80C>G (p.Thr27Ser)	COG6 (T27S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 764167	NM_020751.3(COG6):c.84G>C (p.Ser28=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 741826	NM_020751.3(COG6):c.84G>A (p.Ser28=)	COG6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 883032	NM_020751.3(COG6):c.86C>T (p.Ala29Val)	COG6 (A29V)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation	GUncertain significance
Select item 193437	NM_020751.3(COG6):c.94T>A (p.Cys32Ser)	COG6 (C32S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1028179	NM_020751.3(COG6):c.95G>T (p.Cys32Phe)	COG6 (C32F)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation	GUncertain significance
Select item 193438	NM_020751.3(COG6):c.112A>T (p.Lys38Ter)	COG6 (K38*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1035048	NM_020751.3(COG6):c.119A>G (p.His40Arg)	COG6 (H40R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 540363	NM_020751.3(COG6):c.123G>A (p.Lys41=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 1077340	NM_020751.3(COG6):c.126C>T (p.Ile42=)	COG6	Single nucleotide variant (synonymous variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 640657	NM_020751.3(COG6):c.134C>T (p.Thr45Met)	COG6 (T45M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 508525	NM_020751.3(COG6):c.153+11C>A	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +2 more	GLikely benign
Select item 384379	NM_020751.3(COG6):c.153+19G>A	COG6	Single nucleotide variant (intron variant)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +2 more	GBenign/Likely benign
Select item 1267230	NM_020751.3(COG6):c.153+27C>T	COG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294342	NM_020751.3(COG6):c.153+50C>T	COG6, LOC130009594	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294349	NM_020751.3(COG6):c.153+106A>C	COG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269726	NM_020751.3(COG6):c.153+200G>A	COG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260644	NM_020751.3(COG6):c.153+213C>T	COG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220794	NM_020751.3(COG6):c.153+278T>C	COG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2498081	NM_020751.3(COG6):c.153+392A>G	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation	GPathogenic
Select item 1238773	NM_020751.3(COG6):c.154-310del	COG6	Deletion (intron variant)	not provided	GBenign
Select item 1241940	NM_020751.3(COG6):c.154-207T>G	COG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294347	NM_020751.3(COG6):c.154-97T>C	COG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1597404	NM_020751.3(COG6):c.154-12C>T	COG6	Single nucleotide variant (intron variant)	COG6-congenital disorder of glycosylation +1 more	GLikely benign
Select item 802961	NM_020751.3(COG6):c.154-2A>G	COG6	Single nucleotide variant (splice acceptor variant)	COG6-congenital disorder of glycosylation	GLikely pathogenic
Select item 840902	NM_020751.3(COG6):c.155A>G (p.Glu52Gly)	COG6 (E52G)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2040753	NM_020751.3(COG6):c.172A>G (p.Lys58Glu)	COG6 (K58E)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 1690777	NM_020751.3(COG6):c.181del (p.Ser61fs)	COG6 (S61fs)	Deletion (frameshift variant +1 more)	See cases	GLikely pathogenic
Select item 2159631	NM_020751.3(COG6):c.203G>A (p.Ser68Asn)	COG6 (S68N)	Single nucleotide variant (missense variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GUncertain significance
Select item 2228414	NM_020751.3(COG6):c.209G>A (p.Arg70Gln)	COG6 (R70Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3147122	NM_020751.3(COG6):c.236T>C (p.Ile79Thr)	COG6 (I79T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1304214	NM_020751.3(COG6):c.241C>A (p.Arg81Ser)	COG6 (R81S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3147123	NM_020751.3(COG6):c.245A>G (p.Lys82Arg)	COG6 (K82R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1454276	NM_020751.3(COG6):c.252del (p.Ala85fs)	COG6 (A85fs)	Deletion (frameshift variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GPathogenic
Select item 511001	NM_020751.3(COG6):c.258C>T (p.Ile86=)	COG6	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 312131	NM_020751.3(COG6):c.260A>G (p.Asn87Ser)	COG6 (N87S)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 707773	NM_020751.3(COG6):c.261T>C (p.Asn87=)	COG6	Single nucleotide variant (synonymous variant +1 more)	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome +1 more	GLikely benign
Select item 3036174	NM_020751.3(COG6):c.297+4T>C	COG6	Single nucleotide variant (intron variant)	COG6-related disorder	GLikely benign
Select item 1217324	NM_020751.3(COG6):c.297+47C>T	COG6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1226157	NM_020751.3(COG6):c.297+322C>A	COG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196549	NM_020751.3(COG6):c.298-97T>G	COG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3031566	NM_020751.3(COG6):c.298-8C>A	COG6	Single nucleotide variant (intron variant)	COG6-related disorder	GLikely benign
Select item 2136197	NM_020751.3(COG6):c.298-1G>A	COG6	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1030728	NM_020751.3(COG6):c.299A>T (p.Glu100Val)	COG6 (E100V)	Single nucleotide variant (missense variant +1 more)	COG6-congenital disorder of glycosylation +2 more	GUncertain significance

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