ClinVar for MedGen (Select 462263) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339549	NC_000013.10:g.(?_52586533)_(52607737_?)del	ALG11, UTP14C	Deletion	ALG11-congenital disorder of glycosylation	GPathogenic
Select item 3255372	NM_001004127.3(ALG11):c.1307G>T (p.Gly436Val)	ALG11, UTP14C (G436V)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GLikely pathogenic
Select item 3255371	NM_001004127.3(ALG11):c.1403G>A (p.Arg468His)	ALG11, UTP14C (R468H)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GLikely pathogenic
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	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 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 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 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 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 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 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 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_001004127.3(ALG11):c.1208-7T>C	ALG11, UTP14C	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1658848	NM_001004127.3(ALG11):c.1208-14G>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 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)	not provided +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 1303283	NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala)	UTP14C, ALG11 (E387A)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1210215	NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr)	ALG11, UTP14C (M395T)	Single nucleotide variant (missense variant +1 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 1143193	NM_001004127.3(ALG11):c.44+154G>A	ALG11, LOC130009842	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1135135	NM_001004127.3(ALG11):c.1191C>T (p.Asn397=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 1073825	NC_000013.10:g.(?_52585403)_(52602726_?)del	ALG11, ATP7B +1 more	Deletion	Wilson disease +1 more	GPathogenic
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 1061831	NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu)	ALG11 (D174E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1028908	NM_001004127.3(ALG11):c.991G>T (p.Val331Phe)	ALG11, UTP14C (V331F)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
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 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 961247	NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val)	ALG11, UTP14C (A450V)	Single nucleotide variant (missense variant +2 more)	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)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 883956	NM_021645.6(UTP14C):c.470T>G (p.Val157Gly)	ALG11, UTP14C (V157G)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 883955	NM_001004127.3(ALG11):c.*540T>A	ALG11, UTP14C (V109D)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 883954	NM_001004127.3(ALG11):c.*491G>A	ALG11, UTP14C (V93I)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 883953	NM_001004127.3(ALG11):c.*490C>T	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	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 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 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 883888	NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser)	ALG11, LOC130009841 (G4S)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 883177	NM_001004127.3(ALG11):c.*386C>T	ALG11, UTP14C (R58W)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 883176	NM_001004127.3(ALG11):c.*173G>A	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GLikely benign
Select item 883175	NM_001004127.3(ALG11):c.*22G>T	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 882013	NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +2 more)	ALG11-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 882012	NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala)	ALG11, UTP14C (V405A)	Single nucleotide variant (missense variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 882011	NM_001004127.3(ALG11):c.1037G>A (p.Arg346His)	ALG11, UTP14C (R346H)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 880668	NM_001004127.3(ALG11):c.*789A>G	ALG11, UTP14C (H192R)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 880667	NM_001004127.3(ALG11):c.*754A>C	ALG11, UTP14C (R180S)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 880597	NM_001004127.3(ALG11):c.900A>T (p.Gly300=)	ALG11	Single nucleotide variant (synonymous 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 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 759476	NM_001004127.3(ALG11):c.678T>C (p.Asn226=)	ALG11	Single nucleotide variant (synonymous variant)	ALG11-congenital disorder of glycosylation	GLikely benign
Select item 715371	NM_001004127.3(ALG11):c.1452A>G (p.Leu484=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 654338	NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)	ALG11 (G300E)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
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 584213	NC_000013.10:g.(?_52538988)_(52602746_?)dup	ATP7B, ALG11 +7 more	Duplication	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 575356	NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala)	ALG11 (T275A)	Single nucleotide variant (missense variant)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 538870	NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys)	ALG11 (R136C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509279	NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=)	UTP14C, ALG11	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 487323	NM_001004127.3(ALG11):c.44+324T>C	ALG11	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation +1 more	GLikely benign
Select item 422476	NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg)	ALG11, UTP14C (M408R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 422475	NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly)	ALG11 (E312G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 420418	NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del)	ALG11, UTP14C (K329del)	Microsatellite (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 384769	NM_001004127.3(ALG11):c.44+20G>T	ALG11, LOC130009841	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 381405	NM_001004127.3(ALG11):c.1032T>G (p.Gly344=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 312426	NM_021645.6(UTP14C):c.835C>T (p.Leu279=)	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GBenign
Select item 312425	NM_001004127.3(ALG11):c.*953A>G	ALG11, UTP14C (K247E)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312423	NM_001004127.3(ALG11):c.*515A>G	ALG11, UTP14C (T101A)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GBenign
Select item 312422	NM_001004127.3(ALG11):c.*468G>T	ALG11, UTP14C (G85V)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GBenign
Select item 312421	NM_001004127.3(ALG11):c.*406T>C	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312420	NM_001004127.3(ALG11):c.*297G>A	ALG11, UTP14C (S28N)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312419	NM_001004127.3(ALG11):c.*277G>T	ALG11, UTP14C (L21F)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312418	NM_001004127.3(ALG11):c.*193A>C	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GBenign
Select item 312417	NM_001004127.3(ALG11):c.*148A>T	ALG11, UTP14C	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312416	NM_001004127.3(ALG11):c.1208-6T>C	ALG11, UTP14C	Single nucleotide variant (intron variant)	ALG11-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 312415	NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe)	ALG11, UTP14C (C345F)	Single nucleotide variant (missense variant +1 more)	ALG11-congenital disorder of glycosylation	GUncertain significance
Select item 312414	NM_001004127.3(ALG11):c.1029A>G (p.Gly343=)	ALG11, UTP14C	Single nucleotide variant (synonymous variant +1 more)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 312413	NM_001004127.3(ALG11):c.933G>A (p.Pro311=)	ALG11	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 312412	NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr)	ALG11 (A179T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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

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