"Illumina Laboratory Services, Illumina"[submitter] AND "ALG6"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 297842	NM_013339.4(ALG6):c.-207-12T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +2 more	GConflicting classifications of pathogenicity
Select item 874448	NM_013339.4(ALG6):c.-141A>G	ALG6	Single nucleotide variant (5 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297843	NM_013339.4(ALG6):c.-136C>G	ALG6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297844	NM_013339.4(ALG6):c.-128C>T	ALG6	Single nucleotide variant (5 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 875355	NM_013339.4(ALG6):c.-121T>G	ALG6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 875356	NM_013339.4(ALG6):c.-120C>T	ALG6	Single nucleotide variant (5 prime UTR 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 875357	NM_013339.4(ALG6):c.101T>C (p.Met34Thr)	ALG6 (M34T)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 875358	NM_013339.4(ALG6):c.155C>T (p.Pro52Leu)	ALG6 (P52L)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297845	NM_013339.4(ALG6):c.156G>A (p.Pro52=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 297846	NM_013339.4(ALG6):c.167+7T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GConflicting classifications of pathogenicity
Select item 875359	NM_013339.4(ALG6):c.302G>A (p.Arg101His)	ALG6 (R101H)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297847	NM_013339.4(ALG6):c.328C>G (p.Leu110Val)	ALG6 (L110V)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 875420	NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp)	ALG6 (Y124D)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 30422	NM_013339.4(ALG6):c.391T>C (p.Tyr131His)	ALG6 (Y131H)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GBenign/Likely benign
Select item 297848	NM_013339.4(ALG6):c.430-9T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 875421	NM_013339.4(ALG6):c.450C>A (p.Ile150=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
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	GUncertain significance
Select item 297849	NM_013339.4(ALG6):c.495A>G (p.Gln165=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 875422	NM_013339.4(ALG6):c.648C>G (p.Gly216=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 640169	NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)	ALG6 (K224R)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 380528	NM_013339.4(ALG6):c.678G>T (p.Lys226Asn)	ALG6 (K226N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 128353	NM_013339.4(ALG6):c.726C>T (p.Phe242=)	ALG6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 297850	NM_013339.4(ALG6):c.728T>C (p.Val243Ala)	ALG6 (V243A)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 128354	NM_013339.4(ALG6):c.751A>G (p.Thr251Ala)	ALG6 (T251A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 297851	NM_013339.4(ALG6):c.862A>G (p.Ile288Val)	ALG6 (I288V)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 876450	NM_013339.4(ALG6):c.882T>C (p.Arg294=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 95531	NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)	ALG6 (S304F)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GBenign/Likely benign
Select item 210121	NM_013339.4(ALG6):c.950T>C (p.Ile317Thr)	ALG6 (I317T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 128355	NM_013339.4(ALG6):c.981T>C (p.Phe327=)	ALG6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 5497	NM_013339.4(ALG6):c.998C>T (p.Ala333Val)	ALG6 (A333V)	Single nucleotide variant (missense variant)	ALG6-related condition +2 more	GPathogenic
Select item 874491	NM_013339.4(ALG6):c.1127+8A>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C	GConflicting classifications of pathogenicity
Select item 210119	NM_013339.4(ALG6):c.1314T>C (p.Ile438=)	ALG6	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 95528	NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-related condition +3 more	GBenign/Likely benign
Select item 380085	NM_013339.4(ALG6):c.1357C>G (p.Leu453Val)	ALG6 (L453V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 382062	NM_013339.4(ALG6):c.1398A>T (p.Leu466=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GConflicting classifications of pathogenicity
Select item 517818	NM_013339.4(ALG6):c.1452C>T (p.Phe484=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GBenign/Likely benign
Select item 874492	NM_013339.4(ALG6):c.*47A>T	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297852	NM_013339.4(ALG6):c.*89G>A	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297853	NM_013339.4(ALG6):c.*152T>C	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297854	NM_013339.4(ALG6):c.*174A>G	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 874547	NM_013339.4(ALG6):c.*268C>T	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 874548	NM_013339.4(ALG6):c.*404T>C	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297855	NM_013339.4(ALG6):c.*436T>C	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 874549	NM_013339.4(ALG6):c.*454C>T	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297856	NM_013339.4(ALG6):c.*670G>A	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297857	NM_013339.4(ALG6):c.*705del	ALG6	Deletion (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 297858	NM_013339.4(ALG6):c.*761T>C	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GBenign
Select item 297859	NM_013339.4(ALG6):c.*790TATAT[1]	ALG6	Microsatellite (3 prime UTR variant)	Congenital disorder of glycosylation	GLikely benign
Select item 297860	NM_013339.4(ALG6):c.*796AT[6]	ALG6	Microsatellite (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 297861	NM_013339.4(ALG6):c.*844T>C	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GBenign
Select item 297862	NM_013339.4(ALG6):c.*961C>T	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 297863	NM_013339.4(ALG6):c.*1004C>A	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297864	NM_013339.4(ALG6):c.*1136C>T	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 297865	NM_013339.4(ALG6):c.*1137G>A	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297866	NM_013339.4(ALG6):c.*1156dup	ALG6	Duplication (3 prime UTR variant)	Congenital disorder of glycosylation	GLikely benign
Select item 875473	NM_013339.4(ALG6):c.*1169G>A	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 876491	NM_013339.4(ALG6):c.*1238A>C	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 876492	NM_013339.4(ALG6):c.*1313T>C	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance
Select item 297867	NM_013339.4(ALG6):c.*1322A>G	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GBenign
Select item 297868	NM_013339.4(ALG6):c.*1385T>C	ALG6	Single nucleotide variant (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 297869	NM_013339.4(ALG6):c.*1415T>G	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 297870	NM_013339.4(ALG6):c.*1434T>C	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GLikely benign
Select item 876493	NM_013339.4(ALG6):c.*1464A>C	ALG6	Single nucleotide variant (3 prime UTR variant)	ALG6-congenital disorder of glycosylation 1C	GUncertain significance

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Items: 66