ClinVar for Gene (Select 440138) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063292	GRCh37/hg19 13q14.3(chr13:52580525-52708844)x1	ALG11, ATP7B +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
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 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 3045994	NM_001004127.3(ALG11):c.543G>A (p.Thr181=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-related condition	GLikely benign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	CCDC169-SOHLH2, CCDC70 +119 more	Copy number loss	not provided	GPathogenic
Select item 2921018	NM_021645.6(UTP14C):c.1781T>C (p.Ile594Thr)	ALG11, UTP14C (I594T)	Single nucleotide variant (3 prime UTR variant +2 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 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 2825149	NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)	ALG11, UTP14C (E488*)	Single nucleotide variant (nonsense +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2770727	NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)	ALG11, UTP14C (C407F)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
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 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 2685465	GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	GUncertain significance
Select item 2672260	NM_001004127.3(ALG11):c.1036C>T (p.Arg346Cys)	ALG11, UTP14C (R346C)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	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 2662017	NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)	ALG11 (W260R)	Single nucleotide variant (missense variant)	not provided +1 more	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
Select item 2607867	NM_021645.6(UTP14C):c.1880T>C (p.Leu627Pro)	ALG11, UTP14C (L627P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2607673	NM_021645.6(UTP14C):c.778G>T (p.Ala260Ser)	ALG11, UTP14C (A260S)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2597400	NM_021645.6(UTP14C):c.2014C>T (p.Arg672Cys)	ALG11, UTP14C (R672C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2597058	NM_021645.6(UTP14C):c.1109C>T (p.Pro370Leu)	ALG11, UTP14C (P370L)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2596090	NM_021645.6(UTP14C):c.1850C>T (p.Ala617Val)	ALG11, UTP14C (A617V)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2585431	NM_001004127.3(ALG11):c.932C>T (p.Pro311Leu)	ALG11 (P311L)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2548311	NM_001004127.3(ALG11):c.857C>T (p.Thr286Ile)	ALG11 (T286I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539832	NM_021645.6(UTP14C):c.1025G>A (p.Ser342Asn)	ALG11, UTP14C (S342N)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2539803	NM_021645.6(UTP14C):c.1058A>G (p.Glu353Gly)	ALG11, UTP14C (E353G)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2533754	NM_001004127.3(ALG11):c.1291G>A (p.Glu431Lys)	ALG11, UTP14C (E431K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2516718	NM_021645.6(UTP14C):c.664C>G (p.His222Asp)	ALG11, UTP14C (H222D)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2488886	NM_021645.6(UTP14C):c.860A>T (p.Asn287Ile)	ALG11, UTP14C (N287I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2460879	NM_021645.6(UTP14C):c.2276G>A (p.Arg759His)	ALG11, UTP14C (R759H)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2438986	NM_001004127.3(ALG11):c.770A>G (p.Asn257Ser)	ALG11 (N257S)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 2422253	NC_000013.10:g.(?_51484213)_(52602726_?)dup	ALG11, ATP7B +8 more	Duplication	Wilson disease	GUncertain significance
Select item 2379901	NM_021645.6(UTP14C):c.2275C>T (p.Arg759Cys)	ALG11, UTP14C (R759C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2372608	NM_021645.6(UTP14C):c.1468C>A (p.Pro490Thr)	ALG11, UTP14C (P490T)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2368373	NM_021645.6(UTP14C):c.145A>G (p.Ile49Val)	ALG11, UTP14C (I49V)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	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 2355441	NM_001004127.3(ALG11):c.111T>G (p.Ile37Met)	ALG11 (I37M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349555	NM_021645.6(UTP14C):c.668G>A (p.Arg223Gln)	UTP14C, ALG11 (R223Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2345570	NM_021645.6(UTP14C):c.1038G>C (p.Glu346Asp)	ALG11, UTP14C (E346D)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2342439	NM_021645.6(UTP14C):c.642G>A (p.Met214Ile)	ALG11, UTP14C (M214I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2304514	NM_021645.6(UTP14C):c.1111A>G (p.Asn371Asp)	UTP14C, ALG11 (N371D)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2298590	NM_021645.6(UTP14C):c.1702C>T (p.Pro568Ser)	ALG11, UTP14C (P568S)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296277	NM_021645.6(UTP14C):c.121A>G (p.Lys41Glu)	ALG11, UTP14C (K41E)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2294295	NM_021645.6(UTP14C):c.2066C>T (p.Thr689Ile)	ALG11, UTP14C (T689I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2268828	NM_021645.6(UTP14C):c.1864G>T (p.Asp622Tyr)	ALG11, UTP14C (D622Y)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2266119	NM_021645.6(UTP14C):c.542C>T (p.Thr181Ile)	UTP14C, ALG11 (T181I)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258528	NM_021645.6(UTP14C):c.1144A>C (p.Thr382Pro)	UTP14C, ALG11 (T382P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2242777	NM_001004127.3(ALG11):c.1267A>G (p.Lys423Glu)	UTP14C, ALG11 (K423E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2223620	NM_021645.6(UTP14C):c.704A>G (p.Tyr235Cys)	UTP14C, ALG11 (Y235C)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2220814	NM_021645.6(UTP14C):c.1072C>T (p.His358Tyr)	ALG11, UTP14C (H358Y)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2216963	NM_021645.6(UTP14C):c.1384T>C (p.Ser462Pro)	UTP14C, ALG11 (S462P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	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 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 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 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 2073974	NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)	ALG11, UTP14C (K492fs)	Deletion (frameshift variant +2 more)	ALG11-congenital disorder of glycosylation	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 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 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 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 1715491	NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)	ALG11, UTP14C (D425N)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1710379	NM_001004127.3(ALG11):c.1302_1305dup (p.Gly436fs)	ALG11, UTP14C (G436fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1707147	NM_021645.6(UTP14C):c.-486-213dup	ALG11, UTP14C	Duplication (intron variant)	not provided	GLikely benign
Select item 1706562	GRCh37/hg19 13q14.3(chr13:52535544-53362733)x3	ALG11, ATP7B +9 more	Copy number gain	See cases	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 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1700351	NM_001004127.3(ALG11):c.45-2A>T	ALG11	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1694705	NM_021645.6(UTP14C):c.1393T>C (p.Leu465=)	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	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 1658849	NM_021645.6(UTP14C):c.-486-7T>C	ALG11, UTP14C	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1658848	NM_021645.6(UTP14C):c.-486-14G>T	ALG11, UTP14C	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
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 1620907	NM_001004127.3(ALG11):c.874T>C (p.Leu292=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1615448	NM_001004127.3(ALG11):c.987G>A (p.Lys329=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation	GLikely benign
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 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	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 1517620	NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu)	ALG11 (K313E)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 1437435	NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly)	ALG11 (A221G)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
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 1398034	NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala)	ALG11 (P316A)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	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 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ALG11, ARL11 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
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 1310503	NM_001004127.3(ALG11):c.276-13_276-10delinsGGTTAAGATTTTAAC	ALG11	Indel (intron variant)	not provided	GUncertain significance

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