Related gene-specific medical variations for Gene (Select 29929) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247797	NC_000001.10:g.(?_63881705)_(63885042_?)del	ALG6	Deletion	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 3247796	NC_000001.10:g.(?_63867905)_(63870232_?)del	ALG6	Deletion	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 3247795	NC_000001.10:g.(?_63881524)_(63885131_?)del	ALG6	Deletion	ALG6-congenital disorder of glycosylation 1C	GPathogenic
Select item 3247794	NC_000001.10:g.(?_63862164)_(63862288_?)del	ALG6	Deletion	ALG6-congenital disorder of glycosylation 1C	GPathogenic
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 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 3241424	NM_013339.4(ALG6):c.1013del (p.Leu338fs)	ALG6 (L338fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely 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 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 2675723	NM_013339.4(ALG6):c.902+2dup	ALG6	Duplication (splice donor 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 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 2675691	NM_013339.4(ALG6):c.663del (p.Gly222fs)	ALG6 (G222fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely 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 2675683	NM_013339.4(ALG6):c.493del (p.Gln165fs)	ALG6 (Q165fs)	Deletion (frameshift variant)	ALG6-congenital disorder of glycosylation 1C	GLikely 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 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 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 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 2675590	NM_013339.4(ALG6):c.1113del (p.Val372fs)	ALG6 (V372fs)	Deletion (frameshift variant)	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 2675551	NM_013339.4(ALG6):c.680+1del	ALG6	Deletion (splice donor variant)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 1326126	NM_013339.4(ALG6):c.-208+115C>G	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269353	NM_013339.4(ALG6):c.-208+92G>T	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242754	NM_013339.4(ALG6):c.-208+216G>T	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230123	NM_013339.4(ALG6):c.-208+78C>G	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 990162	NM_013339.4(ALG6):c.346+7G>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 874447	NM_013339.4(ALG6):c.-208+10T>C	ALG6, LOC129930665	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 676676	NM_013339.4(ALG6):c.-235_-217dup	ALG6, LOC129930665	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 297841	NM_013339.4(ALG6):c.-221C>G	ALG6, LOC129930665	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 31