"Baylor Genetics"[submitter] AND "ALG6"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030279	NM_013339.4(ALG6):c.36A>C (p.Leu12Phe)	ALG6 (L12F)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 555747	NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)	ALG6 (R18*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 2675652	NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)	ALG6 (W19*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 558193	NM_013339.4(ALG6):c.82_82+8del	ALG6	Deletion (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2081106	NM_013339.4(ALG6):c.82+1G>A	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2675662	NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)	ALG6 (Y38*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 651010	NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)	ALG6	Deletion (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 2675697	NM_013339.4(ALG6):c.168-1G>A	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 557002	NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)	ALG6 (Y57*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675638	NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs)	ALG6 (A77fs)	Indel (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 556498	NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)	ALG6 (A84T)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 550168	NM_013339.4(ALG6):c.257+2dup	ALG6	Duplication (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 95529	NM_013339.4(ALG6):c.257+5G>A	ALG6	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551854	NM_013339.4(ALG6):c.338G>A (p.Arg113His)	ALG6 (R113H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2675603	NM_013339.4(ALG6):c.347-2A>G	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 1456617	NM_013339.4(ALG6):c.428del (p.Lys143fs)	ALG6 (K143fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 553556	NM_013339.4(ALG6):c.429+1G>T	ALG6	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 632114	NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)	ALG6 (Y161C)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GUncertain significance
Select item 2675683	NM_013339.4(ALG6):c.493del (p.Gln165fs)	ALG6 (Q165fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 1407854	NM_013339.4(ALG6):c.506_507del (p.Val169fs)	ALG6 (V169fs)	Microsatellite (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 3241485	NM_013339.4(ALG6):c.536_537del (p.Leu179fs)	ALG6 (L179fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 422234	NM_013339.4(ALG6):c.634dup (p.Cys212fs)	ALG6 (C212fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675728	NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)	ALG6 (K220*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2675691	NM_013339.4(ALG6):c.663del (p.Gly222fs)	ALG6 (G222fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2675698	NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)	ALG6 (K224fs)	Duplication (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2675551	NM_013339.4(ALG6):c.680+1del	ALG6	Deletion (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 381535	NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)	ALG6 (G227E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3241474	NM_013339.4(ALG6):c.680+1G>T	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 1522702	NM_013339.4(ALG6):c.680+1G>A	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 30421	NM_013339.4(ALG6):c.680+2T>G	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 1454278	NM_013339.4(ALG6):c.684del (p.Phe228fs)	ALG6 (F228fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 2675671	NM_013339.4(ALG6):c.738G>A (p.Trp246Ter)	ALG6 (W246*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2675557	NM_013339.4(ALG6):c.772C>T (p.Gln258Ter)	ALG6 (Q258*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 1338460	NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)	ALG6	Duplication (nonsense)	ALG6-congenital disorder of glycosylation 1C +1 more	GPathogenic/Likely pathogenic
Select item 30420	NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)	ALG6 (I299del)	Microsatellite (inframe_deletion)	ALG6-congenital disorder of glycosylation 1C +1 more	GPathogenic/Likely pathogenic
Select item 2675723	NM_013339.4(ALG6):c.902+2dup	ALG6	Duplication (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 1450339	NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)	ALG6 (L307*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 2675684	NM_013339.4(ALG6):c.987+1G>T	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 1524712	NM_013339.4(ALG6):c.988-1G>A	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 374388	NM_013339.4(ALG6):c.988G>T (p.Val330Phe)	ALG6 (V330F)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 5497	NM_013339.4(ALG6):c.998C>T (p.Ala333Val)	ALG6 (A333V)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C +2 more	GPathogenic
Select item 959942	NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)	ALG6 (F336fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 3241424	NM_013339.4(ALG6):c.1013del (p.Leu338fs)	ALG6 (L338fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 965480	NM_013339.4(ALG6):c.1018del (p.Ser340fs)	ALG6 (S340fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 2675741	NM_013339.4(ALG6):c.1058+1G>A	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2675735	NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu)	ALG6 (P354L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2675590	NM_013339.4(ALG6):c.1113del (p.Val372fs)	ALG6 (V372fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 553967	NM_013339.4(ALG6):c.1128-2A>C	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 983074	NM_013339.4(ALG6):c.1128-1G>A	ALG6	Single nucleotide variant (splice acceptor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 555579	NM_013339.4(ALG6):c.1136del (p.Pro379fs)	ALG6 (P379fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 552130	NM_013339.4(ALG6):c.1167del (p.Ser390fs)	ALG6 (S390fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 551075	NM_013339.4(ALG6):c.1194dup (p.Ile399fs)	ALG6 (I399fs)	Duplication (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 552249	NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)	ALG6 (F398fs)	Indel (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2633911	NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)	ALG6 (L416fs)	Deletion (frameshift variant)	ALG6-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1423464	NM_013339.4(ALG6):c.1249del (p.Gln417fs)	ALG6 (Q417fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 2675682	NM_013339.4(ALG6):c.1326+1G>A	ALG6	Single nucleotide variant (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GPathogenic/Likely pathogenic
Select item 555103	NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)	ALG6 (P463fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 555315	NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)	ALG6 (Q464*)	Single nucleotide variant (nonsense)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity

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Items: 58