ALG11[gene] - 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 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009757, LOC130009758 +780 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	LOC130009739, LOC130009740 +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	AKAP11, ALG11 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009911, LOC130009912 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	AKAP11, ALG11 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LRRC63, MED4 +612 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009913, LOC130009914 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LOC130009813, LOC130009814 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009962, LOC130009963 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ABCC4, ABHD13 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	MIR20A, MIR3169 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	ACOD1, ALG11 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 58255	GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3	ALG11, ATP7B +35 more	Copy number gain	See cases	GUncertain significance
Select item 584213	NC_000013.10:g.(?_52538988)_(52602746_?)dup	ALG11, ATP7B +7 more	Duplication	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312405	NM_000053.4(ATP7B):c.-75C>A	ALG11, ATP7B	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 35699	NM_000053.4(ATP7B):c.-123_-119dupCGCCG	ALG11, ATP7B	Duplication (genic upstream transcript variant)	not specified +5 more	GBenign/Likely benign
Select item 1196009	NC_000013.11:g.52012324G>A	ALG11	Single nucleotide variant	not provided	GLikely benign
Select item 312408	NM_001004127.2(ALG11):c.-23C>T	ALG11, ATP7B +1 more	Single nucleotide variant	not specified +2 more	GUncertain significance
Select item 1313498	NM_001004127.3(ALG11):c.-4_13dup (p.Glu5fs)	ALG11, LOC130009841 (E5fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 3055208	NM_001004127.3(ALG11):c.-9C>T	ALG11, LOC130009841	Single nucleotide variant (5 prime UTR variant +1 more)	ALG11-related condition	GLikely benign
Select item 1028907	NM_001004127.3(ALG11):c.1A>G (p.Met1Val)	ALG11, LOC130009841 (M1V)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GLikely pathogenic
Select item 1184605	NM_001004127.3(ALG11):c.2T>C (p.Met1Thr)	LOC130009841, ALG11 (M1T)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GLikely pathogenic
Select item 653266	NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)	ALG11, LOC130009841 (A2V)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2908667	NM_001004127.3(ALG11):c.6G>A (p.Ala2=)	ALG11, LOC130009841	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 883888	NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser)	ALG11, LOC130009841 (G4S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1201529	NM_001004127.3(ALG11):c.14A>G (p.Glu5Gly)	ALG11, LOC130009841 (E5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1581888	NM_001004127.3(ALG11):c.18G>A (p.Arg6=)	ALG11, LOC130009841	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 883889	NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg)	ALG11, LOC130009841 (S7R)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 3048083	NM_001004127.3(ALG11):c.27C>T (p.Cys9=)	ALG11, LOC130009841	Single nucleotide variant (synonymous variant +1 more)	ALG11-related condition	GLikely benign
Select item 2898658	NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)	ALG11, LOC130009841 (C9*)	Single nucleotide variant (nonsense +1 more)	ALG11-congenital disorder of glycosylation	GPathogenic
Select item 1523042	NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly)	ALG11, LOC130009841 (C11G)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312409	NM_001004127.3(ALG11):c.44G>C (p.Arg15Thr)	ALG11, LOC130009841 (R15T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 723987	NM_001004127.3(ALG11):c.44+10C>G	ALG11, LOC130009841	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990258	NM_001004127.3(ALG11):c.44+14C>G	ALG11, LOC130009841	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1672815	NM_001004127.3(ALG11):c.44+19G>A	ALG11, LOC130009841	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 384769	NM_001004127.3(ALG11):c.44+20G>T	ALG11, LOC130009841	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1143193	NM_001004127.3(ALG11):c.44+154G>A	ALG11, LOC130009842	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation +1 more	GLikely benign
Select item 487323	NM_001004127.3(ALG11):c.44+324T>C	ALG11	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1218191	NM_001004127.3(ALG11):c.45-331G>C	ALG11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189367	NM_001004127.3(ALG11):c.45-121G>A	ALG11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700351	NM_001004127.3(ALG11):c.45-2A>T	ALG11	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2474746	NM_001004127.3(ALG11):c.70G>A (p.Gly24Arg)	ALG11 (G24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 312410	NM_001004127.3(ALG11):c.75C>T (p.Leu25=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 285663	NM_001004127.3(ALG11):c.97G>A (p.Val33Met)	ALG11 (V33M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2355441	NM_001004127.3(ALG11):c.111T>G (p.Ile37Met)	ALG11 (I37M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1347395	NM_001004127.3(ALG11):c.124A>G (p.Ile42Val)	ALG11 (I42V)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 195102	NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro)	ALG11 (L46P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 883890	NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg)	ALG11 (S56R)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 235377	NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile)	ALG11 (N58I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2271178	NM_001004127.3(ALG11):c.182A>G (p.Asn61Ser)	ALG11 (N61S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1063818	NM_001004127.3(ALG11):c.187A>T (p.Met63Leu)	ALG11 (M63L)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 883891	NM_001004127.3(ALG11):c.190G>A (p.Val64Met)	ALG11 (V64M)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2365960	NM_001004127.3(ALG11):c.218A>G (p.Asn73Ser)	ALG11 (N73S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1918513	NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)	ALG11 (R80G)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 1705647	NM_001004127.3(ALG11):c.251G>A (p.Cys84Tyr)	ALG11 (C84Y)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312411	NM_001004127.3(ALG11):c.256T>G (p.Leu86Val)	ALG11 (L86V)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 18393	NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser)	ALG11 (L86S)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GPathogenic
Select item 1277137	NM_001004127.3(ALG11):c.276-254A>G	ALG11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234726	NM_001004127.3(ALG11):c.276-194dup	ALG11	Duplication (intron variant)	not provided	GBenign
Select item 1310503	NM_001004127.3(ALG11):c.276-13_276-10delinsGGTTAAGATTTTAAC	ALG11	Indel (intron variant)	not provided	GUncertain significance
Select item 880595	NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg)	ALG11 (P94R)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2210811	NM_001004127.3(ALG11):c.299T>C (p.Val100Ala)	ALG11 (V100A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066465	NM_001004127.3(ALG11):c.306C>T (p.Thr102=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1895802	NM_001004127.3(ALG11):c.309C>T (p.Gly103=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 196291	NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser)	ALG11 (N108S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1415072	NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser)	ALG11 (G109S)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2165830	NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)	ALG11 (I122L)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 1647761	NM_001004127.3(ALG11):c.402G>A (p.Arg134=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 538870	NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys)	ALG11 (R136C)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2663451	NM_001004127.3(ALG11):c.407G>A (p.Arg136His)	ALG11 (R136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740150	NM_001004127.3(ALG11):c.445C>T (p.Leu149=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 2308627	NM_001004127.3(ALG11):c.479G>T (p.Gly160Val)	ALG11 (G160V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2117617	NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)	ALG11 (M165T)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 949804	NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg)	ALG11 (Q166R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1061831	NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu)	ALG11 (D174E)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 880596	NM_001004127.3(ALG11):c.526A>G (p.Met176Val)	ALG11 (M176V)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2173719	NM_001004127.3(ALG11):c.534C>T (p.Tyr178=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 312412	NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr)	ALG11 (A179T)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 3045994	NM_001004127.3(ALG11):c.543G>A (p.Thr181=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-related condition	GLikely benign
Select item 2769509	NM_001004127.3(ALG11):c.612C>T (p.Thr204=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-congenital disorder of glycosylation +1 more	GLikely benign
Select item 31643	NM_001004127.3(ALG11):c.623_642del (p.Ser208fs)	ALG11 (S208fs)	Deletion (frameshift variant)	ALG11-congenital disorder of glycosylation	GPathogenic
Select item 1015385	NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys)	ALG11 (N212K)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2643824	NM_001004127.3(ALG11):c.646G>A (p.Gly216Arg)	ALG11 (G216R)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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