"GeneDx"[submitter] AND "ALG6"[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
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
Select item 1230123	NM_013339.4(ALG6):c.-208+78C>G	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269353	NM_013339.4(ALG6):c.-208+92G>T	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326126	NM_013339.4(ALG6):c.-208+115C>G	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242754	NM_013339.4(ALG6):c.-208+216G>T	ALG6, LOC129930665	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321672	NM_013339.4(ALG6):c.-207-97T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508965	NM_013339.4(ALG6):c.-207-9dup	ALG6	Duplication (intron variant)	not specified	GLikely benign
Select item 297842	NM_013339.4(ALG6):c.-207-12T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GConflicting classifications of pathogenicity
Select item 510668	NM_013339.4(ALG6):c.-196A>G	ALG6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 875355	NM_013339.4(ALG6):c.-121T>G	ALG6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 552732	NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)	ALG6 (R18Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1250524	NM_013339.4(ALG6):c.82+76A>G	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292514	NM_013339.4(ALG6):c.82+89T>G	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
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 1321684	NM_013339.4(ALG6):c.167+148T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 95529	NM_013339.4(ALG6):c.257+5G>A	ALG6	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1328868	NM_013339.4(ALG6):c.258-25T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207722	NM_013339.4(ALG6):c.258-22G>A	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512556	NM_013339.4(ALG6):c.258-15T>C	ALG6	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1304738	NM_013339.4(ALG6):c.264G>T (p.Lys88Asn)	ALG6 (K88N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513960	NM_013339.4(ALG6):c.346+10C>A	ALG6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1252437	NM_013339.4(ALG6):c.347-348T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277943	NM_013339.4(ALG6):c.347-230T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180566	NM_013339.4(ALG6):c.347-107A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GBenign
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 +2 more	GBenign/Likely benign
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 1192791	NM_013339.4(ALG6):c.429+46T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287410	NM_013339.4(ALG6):c.429+289T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180567	NM_013339.4(ALG6):c.430-133T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GBenign
Select item 682384	NM_013339.4(ALG6):c.494+15T>C	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GLikely benign
Select item 1180568	NM_013339.4(ALG6):c.494+74A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GBenign
Select item 1298146	NM_013339.4(ALG6):c.495-138G>A	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221752	NM_013339.4(ALG6):c.495-131T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365678	NM_013339.4(ALG6):c.497A>G (p.Tyr166Cys)	ALG6 (Y166C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 512986	NM_013339.4(ALG6):c.669C>T (p.Leu223=)	ALG6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 380528	NM_013339.4(ALG6):c.678G>T (p.Lys226Asn)	ALG6 (K226N)	Single nucleotide variant (missense variant)	ALG6-congenital disorder of glycosylation 1C +2 more	GBenign
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 1230601	NM_013339.4(ALG6):c.680+128G>T	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234729	NM_013339.4(ALG6):c.681-183C>T	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128353	NM_013339.4(ALG6):c.726C>T (p.Phe242=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C +2 more	GBenign
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 1286388	NM_013339.4(ALG6):c.816+201C>T	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281034	NM_013339.4(ALG6):c.817-292A>G	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233315	NM_013339.4(ALG6):c.817-273G>A	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
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 386349	NM_013339.4(ALG6):c.902+19G>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GLikely benign
Select item 1326201	NM_013339.4(ALG6):c.902+67T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218251	NM_013339.4(ALG6):c.902+123del	ALG6	Deletion (intron variant)	not provided	GLikely benign
Select item 1254388	NM_013339.4(ALG6):c.903-194TA[5]	ALG6	Microsatellite (intron variant)	not provided	GBenign
Select item 1321747	NM_013339.4(ALG6):c.903-36A>G	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268217	NM_013339.4(ALG6):c.903-30A>T	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197104	NM_013339.4(ALG6):c.903-23T>A	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 372732	NM_013339.4(ALG6):c.908_910del (p.Cys303del)	ALG6 (C303del)	Deletion (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 95531	NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)	ALG6 (S304F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 513613	NM_013339.4(ALG6):c.963T>A (p.Ser321=)	ALG6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 128355	NM_013339.4(ALG6):c.981T>C (p.Phe327=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C +2 more	GBenign
Select item 389038	NM_013339.4(ALG6):c.987+12A>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GBenign/Likely benign
Select item 1194946	NM_013339.4(ALG6):c.987+36C>T	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507808	NM_013339.4(ALG6):c.988-14dup	ALG6	Duplication (intron variant)	not specified	GLikely benign
Select item 681401	NM_013339.4(ALG6):c.988-8dup	ALG6	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
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 507518	NM_013339.4(ALG6):c.1005A>C (p.Ser335=)	ALG6	Single nucleotide variant (synonymous variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GLikely benign
Select item 2169648	NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln)	ALG6 (E345Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1180569	NM_013339.4(ALG6):c.1058+111T>G	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GBenign
Select item 1263945	NM_013339.4(ALG6):c.1059-245T>G	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385670	NM_013339.4(ALG6):c.1059-8G>A	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GLikely benign
Select item 1691187	NM_013339.4(ALG6):c.1127+21T>A	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258408	NM_013339.4(ALG6):c.1128-41T>C	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388635	NM_013339.4(ALG6):c.1128-18A>T	ALG6	Single nucleotide variant (intron variant)	ALG6-congenital disorder of glycosylation 1C +1 more	GLikely benign
Select item 95528	NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)	ALG6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1326216	NM_013339.4(ALG6):c.1326+44C>G	ALG6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180377	NM_013339.4(ALG6):c.1327-297G>A	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291394	NM_013339.4(ALG6):c.1327-63A>G	ALG6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380085	NM_013339.4(ALG6):c.1357C>G (p.Leu453Val)	ALG6 (L453V)	Single nucleotide variant (missense variant)	not specified +2 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 391430	NM_013339.4(ALG6):c.1443C>T (p.Asn481=)	ALG6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 517818	NM_013339.4(ALG6):c.1452C>T (p.Phe484=)	ALG6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 452523	NM_013339.4(ALG6):c.1520G>A (p.Ser507Asn)	ALG6 (S507N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 86