"GeneDx"[submitter] AND "ALG1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 1294322	NC_000016.10:g.5071691C>A	ALG1	Single nucleotide variant	not provided	GBenign
Select item 384198	NM_019109.4(ALG1):c.-10G>T	ALG1	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 702826	NM_019109.5(ALG1):c.21C>T (p.Val7=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 510977	NM_019109.4(ALG1):c.36T>C (p.Cys12=)	LOC130058383, ALG1	Single nucleotide variant	not specified +1 more	GLikely benign
Select item 385000	NC_000016.10:g.5071909G>A	ALG1, LOC130058383	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 373810	NM_019109.5(ALG1):c.69del (p.Gly22_Trp23insTer)	ALG1, LOC130058383	Deletion (nonsense)	not provided	GPathogenic
Select item 510533	NM_019109.4(ALG1):c.93G>A (p.Ala31=)	ALG1	Single nucleotide variant	not specified	GLikely benign
Select item 193418	NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)	ALG1, LOC130058384	Single nucleotide variant	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1254626	NM_019109.5(ALG1):c.176A>C (p.His59Pro)	ALG1, LOC130058384 (H59P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193421	NC_000016.10:g.5072040C>A	ALG1, LOC130058384	Single nucleotide variant	ALG1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 511471	NM_019109.4(ALG1):c.196C>T (p.Leu66=)	ALG1, LOC130058384	Single nucleotide variant	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 511812	NM_019109.4(ALG1):c.208+12A>G	ALG1, LOC130058384	Single nucleotide variant	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 515090	NM_019109.5(ALG1):c.208+13_208+14delinsAGGTCT	ALG1, LOC130058384	Indel (intron variant)	not specified	GLikely benign
Select item 95935	NM_019109.5(ALG1):c.208+16_208+19dup	ALG1, LOC130058384	Duplication (intron variant)	not specified +2 more	GBenign
Select item 1251677	NM_019109.5(ALG1):c.209-271C>G	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222862	NM_019109.5(ALG1):c.209-184T>G	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285644	NM_019109.5(ALG1):c.209-168C>G	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246454	NM_019109.5(ALG1):c.209-73G>T	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225400	NM_019109.5(ALG1):c.209-72C>T	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511137	NM_019109.5(ALG1):c.286+10C>T	ALG1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 385584	NM_019109.5(ALG1):c.286+15A>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1702670	NM_019109.5(ALG1):c.295C>T (p.Arg99Ter)	ALG1 (R99*)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 432180	NM_019109.5(ALG1):c.304C>T (p.Gln102Ter)	ALG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 384254	NM_019109.5(ALG1):c.334A>C (p.Met112Leu)	ALG1 (M1L)	Single nucleotide variant (missense variant +1 more)	ALG1-congenital disorder of glycosylation +2 more	GBenign
Select item 512100	NM_019109.5(ALG1):c.384T>C (p.Phe128=)	ALG1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 382782	NM_019109.5(ALG1):c.390+13C>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 95936	NM_019109.5(ALG1):c.390+13C>T	ALG1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1213503	NM_019109.5(ALG1):c.390+46T>A	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208993	NM_019109.5(ALG1):c.390+207C>G	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227477	NM_019109.5(ALG1):c.390+217A>G	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198078	NM_019109.5(ALG1):c.391-40G>C	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188916	NM_019109.5(ALG1):c.391-24C>T	ALG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 389035	NM_019109.5(ALG1):c.391-15C>G	ALG1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 681426	NM_019109.5(ALG1):c.391-13C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 382061	NM_019109.5(ALG1):c.539+16G>A	ALG1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1196945	NM_019109.5(ALG1):c.539+69A>G	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188917	NM_019109.5(ALG1):c.540-111T>A	ALG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 387982	NM_019109.5(ALG1):c.540-13T>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 384255	NM_019109.5(ALG1):c.554T>G (p.Phe185Cys)	ALG1 (F74C)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 513946	NM_019109.5(ALG1):c.579G>A (p.Leu193=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 682375	NM_019109.5(ALG1):c.629+20C>T	ALG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1192832	NM_019109.5(ALG1):c.629+166G>A	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273646	NM_019109.5(ALG1):c.629+186G>T	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188918	NM_019109.5(ALG1):c.630-55G>A	ALG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 384559	NM_019109.5(ALG1):c.630-18G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1309698	NM_019109.5(ALG1):c.693C>G (p.His231Gln)	ALG1 (H120Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382579	NM_019109.5(ALG1):c.714C>T (p.Gly238=)	ALG1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 198235	NM_019109.5(ALG1):c.723C>T (p.His241=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +2 more	GBenign
Select item 1447380	NM_019109.5(ALG1):c.739C>T (p.Arg247Cys)	ALG1 (R136C +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1187138	NM_019109.5(ALG1):c.740+191C>T	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188919	NM_019109.5(ALG1):c.741-111T>C	ALG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192926	NM_019109.5(ALG1):c.741-89C>A	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 4724	NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)	ALG1 (S147L)	Single nucleotide variant (missense variant)	Encephalopathy +4 more	GPathogenic/Likely pathogenic
Select item 798144	NM_019109.5(ALG1):c.787C>T (p.Arg263Trp)	ALG1 (R263W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1310849	NM_019109.5(ALG1):c.791A>T (p.Asp264Val)	ALG1 (D153V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166669	NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)	ALG1 (S156N)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +3 more	GBenign/Likely benign
Select item 504406	NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)	ALG1 (E164*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30539	NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)	ALG1 (R165W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 471233	NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)	ALG1 (R165Q)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 95937	NM_019109.5(ALG1):c.840G>C (p.Leu280=)	ALG1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2498058	NM_019109.5(ALG1):c.843C>T (p.Val281=)	ALG1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1294334	NM_019109.5(ALG1):c.862+23T>C	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188920	NM_019109.5(ALG1):c.863-84G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign
Select item 1188961	NM_019109.5(ALG1):c.863-70C>T	ALG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 387144	NM_019109.5(ALG1):c.863-15A>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 383621	NM_019109.5(ALG1):c.863-15A>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 382048	NM_019109.5(ALG1):c.863-14T>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 382580	NM_019109.5(ALG1):c.867C>T (p.Asp289=)	ALG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 387131	NM_019109.5(ALG1):c.901A>C (p.Lys301Gln)	ALG1 (K190Q)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1194319	NM_019109.5(ALG1):c.901+46A>C	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264985	NM_019109.5(ALG1):c.901+71C>T	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227824	NM_019109.5(ALG1):c.901+246G>C	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261760	NM_019109.5(ALG1):c.901+297T>A	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201395	NM_019109.5(ALG1):c.902-103C>T	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204810	NM_019109.5(ALG1):c.902-47del	ALG1	Deletion (intron variant)	not provided	GLikely benign
Select item 382798	NM_019109.5(ALG1):c.902-20G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1699574	NM_019109.5(ALG1):c.961G>C (p.Gly321Arg)	ALG1 (G210R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682525	NM_019109.5(ALG1):c.961+8C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 507931	NM_019109.5(ALG1):c.961+19G>A	ALG1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1265177	NM_019109.5(ALG1):c.961+84T>C	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258826	NM_019109.5(ALG1):c.961+171C>T	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218864	NM_019109.5(ALG1):c.961+242TTG[2]	ALG1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1229208	NM_019109.5(ALG1):c.961+282dup	ALG1	Duplication (intron variant)	not provided	GBenign
Select item 1194895	NM_019109.5(ALG1):c.961+281_961+282dup	ALG1	Duplication (intron variant)	not provided	GLikely benign
Select item 1254873	NM_019109.5(ALG1):c.962-237C>T	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179417	NM_019109.5(ALG1):c.962-74G>A	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326389	NM_019109.5(ALG1):c.991C>T (p.Arg331Cys)	ALG1 (R220C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1702596	NM_019109.5(ALG1):c.1040G>T (p.Trp347Leu)	ALG1 (W236L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292075	NM_019109.5(ALG1):c.1072+42C>G	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189666	NM_019109.5(ALG1):c.1072+47T>G	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258990	NM_019109.5(ALG1):c.1072+51C>G	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260460	NM_019109.5(ALG1):c.1072+127G>C	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239565	NM_019109.5(ALG1):c.1073-219dup	ALG1	Duplication (intron variant)	not provided	GBenign
Select item 1283004	NM_019109.5(ALG1):c.1073-88C>T	ALG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204888	NM_019109.5(ALG1):c.1073-84G>T	ALG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381171	NM_019109.5(ALG1):c.1080G>A (p.Ala360=)	ALG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2442437	NM_019109.5(ALG1):c.1095_1098del (p.Leu366fs)	ALG1 (L255fs +1 more)	Microsatellite (frameshift variant)	ALG1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 381169	NM_019109.5(ALG1):c.1092C>G (p.Val364=)	ALG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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