"PreventionGenetics, part of Exact Sciences"[submitter] AND "ALG1"[gen - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 702826	NM_019109.5(ALG1):c.21C>T (p.Val7=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder +2 more	GBenign/Likely benign
Select item 281338	NM_019109.5(ALG1):c.115del (p.Val39fs)	ALG1, LOC130058384 (V39fs)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1901600	NM_019109.5(ALG1):c.177C>T (p.His59=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 193421	NM_019109.4(ALG1):c.191C>A (p.Thr64Asn)	ALG1, LOC130058384	Single nucleotide variant	not specified +3 more	GLikely benign
Select item 1323877	NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)	ALG1 (Y113* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 739528	NM_019109.5(ALG1):c.361A>C (p.Arg121=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2916800	NM_019109.5(ALG1):c.372T>C (p.Gly124=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder +1 more	GLikely benign
Select item 512100	NM_019109.5(ALG1):c.384T>C (p.Phe128=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder +2 more	GLikely benign
Select item 2419337	NM_019109.5(ALG1):c.645C>T (p.Tyr215=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1575844	NM_019109.5(ALG1):c.726T>C (p.Ser242=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2971818	NM_019109.5(ALG1):c.741-9C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-related disorder +1 more	GLikely benign
Select item 639433	NM_019109.5(ALG1):c.766G>A (p.Glu256Lys)	ALG1 (E145K)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 1087272	NM_019109.5(ALG1):c.774G>C (p.Ser258=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder +1 more	GLikely benign
Select item 2717077	NM_019109.5(ALG1):c.792T>C (p.Asp264=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder +1 more	GLikely benign
Select item 3030863	NM_019109.5(ALG1):c.825G>A (p.Glu275=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder	GLikely benign
Select item 471233	NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)	ALG1 (R165Q)	Single nucleotide variant (missense variant)	ALG1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 95937	NM_019109.5(ALG1):c.840G>C (p.Leu280=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder +2 more	GBenign
Select item 382580	NM_019109.5(ALG1):c.867C>T (p.Asp289=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 3036862	NM_019109.5(ALG1):c.936T>A (p.Leu312=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder	GLikely benign
Select item 1581365	NM_019109.5(ALG1):c.945C>T (p.Leu315=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 682525	NM_019109.5(ALG1):c.961+8C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 2166299	NM_019109.5(ALG1):c.981G>A (p.Glu327=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder +1 more	GLikely benign
Select item 717035	NM_019109.5(ALG1):c.993C>T (p.Arg331=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 381171	NM_019109.5(ALG1):c.1080G>A (p.Ala360=)	ALG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1112833	NM_019109.5(ALG1):c.1089T>G (p.Gly363=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 381169	NM_019109.5(ALG1):c.1092C>G (p.Val364=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder +2 more	GBenign/Likely benign
Select item 3033829	NM_019109.5(ALG1):c.1170T>C (p.Cys390=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-related disorder	GLikely benign
Select item 224118	NM_019109.5(ALG1):c.1187+3A>G	ALG1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +5 more	GPathogenic/Likely pathogenic
Select item 2918234	NM_019109.5(ALG1):c.1263+9G>A	ALG1	Single nucleotide variant (intron variant)	ALG1-related disorder +1 more	GLikely benign
Select item 382966	NM_019109.5(ALG1):c.1281T>C (p.Phe427=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 3035495	NM_201400.4(EEF2KMT):c.*746A>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant)	ALG1-related disorder	GLikely benign

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Items: 31