"Ambry Genetics"[submitter] AND "ALG1"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2270042	NM_019109.5(ALG1):c.7G>A (p.Ala3Thr)	ALG1 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1574853	NM_019109.5(ALG1):c.18G>T (p.Leu6Phe)	ALG1 (L6F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1448056	NM_019109.5(ALG1):c.29C>A (p.Ala10Glu)	ALG1, LOC130058383 (A10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 593009	NM_019109.5(ALG1):c.29C>T (p.Ala10Val)	ALG1, LOC130058383 (A10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2163246	NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)	ALG1 (R33W)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 281338	NM_019109.5(ALG1):c.115del (p.Val39fs)	ALG1, LOC130058384 (V39fs)	Deletion (frameshift variant)	ALG1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 471232	NM_019109.5(ALG1):c.142C>T	ALG1, LOC130058384	Single nucleotide variant	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2339228	NM_019109.5(ALG1):c.237G>C (p.Gln79His)	ALG1 (Q79H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110450	NM_019109.5(ALG1):c.298G>C (p.Val100Leu)	ALG1 (V100L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3110458	NM_019109.5(ALG1):c.330G>C (p.Gln110His)	ALG1 (Q110H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518603	NM_019109.5(ALG1):c.332C>T (p.Ala111Val)	ALG1 (A111V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286911	NM_019109.5(ALG1):c.351G>C (p.Lys117Asn)	ALG1 (K6N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1416999	NM_019109.5(ALG1):c.443G>T (p.Cys148Phe)	ALG1 (C37F +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1443662	NM_019109.5(ALG1):c.457G>A (p.Val153Ile)	ALG1 (V153I +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2557077	NM_019109.5(ALG1):c.461T>C (p.Ile154Thr)	ALG1 (I154T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2152763	NM_019109.5(ALG1):c.514C>A (p.His172Asn)	ALG1 (H172N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2195234	NM_019109.5(ALG1):c.523G>A (p.Val175Ile)	ALG1 (V64I +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1441027	NM_019109.5(ALG1):c.560G>A (p.Arg187His)	ALG1 (R76H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1397080	NM_019109.5(ALG1):c.575A>G (p.Asn192Ser)	ALG1 (N192S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3110486	NM_019109.5(ALG1):c.601G>C (p.Glu201Gln)	ALG1 (E90Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110491	NM_019109.5(ALG1):c.611C>A (p.Ala204Glu)	ALG1 (A204E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310669	NM_019109.5(ALG1):c.647A>G (p.Asp216Gly)	ALG1 (D105G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610624	NM_019109.5(ALG1):c.697C>G (p.Leu233Val)	ALG1 (L122V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1001041	NM_019109.5(ALG1):c.728C>T (p.Pro243Leu)	ALG1 (P132L +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2069952	NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)	ALG1 (D141E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1449859	NM_019109.5(ALG1):c.770G>A (p.Arg257Gln)	ALG1 (R257Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2264145	NM_019109.5(ALG1):c.776C>T (p.Ala259Val)	ALG1 (A148V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474248	NM_019109.5(ALG1):c.781A>T (p.Thr261Ser)	ALG1 (T261S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1515462	NM_019109.5(ALG1):c.814C>T (p.Arg272Cys)	ALG1 (R272C +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1442856	NM_019109.5(ALG1):c.815G>A (p.Arg272His)	ALG1 (R272H +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 568222	NM_019109.5(ALG1):c.880A>C (p.Ile294Leu)	ALG1 (I183L)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2230387	NM_019109.5(ALG1):c.886C>A (p.Leu296Met)	ALG1 (L296M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1477684	NM_019109.5(ALG1):c.933C>A (p.Asn311Lys)	ALG1 (N311K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2547719	NM_019109.5(ALG1):c.988A>T (p.Ser330Cys)	ALG1 (S330C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2481927	NM_019109.5(ALG1):c.1006A>C (p.Lys336Gln)	ALG1 (K225Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4725	NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)	ALG1 (Q342P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1431547	NM_019109.5(ALG1):c.1066C>G (p.Leu356Val)	ALG1 (L245V +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 95931	NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)	ALG1 (A249V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 2377537	NM_019109.5(ALG1):c.1091T>G (p.Val364Gly)	ALG1 (V253G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3110420	NM_019109.5(ALG1):c.1288C>A (p.Pro430Thr)	ALG1, EEF2KMT (P319T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1048859	NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu)	ALG1, EEF2KMT (A320E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 690315	NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)	ALG1, EEF2KMT (R327W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2060490	NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)	ALG1, EEF2KMT (R337Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2555934	NM_019109.5(ALG1):c.1390A>C (p.Thr464Pro)	ALG1, EEF2KMT (T464P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351915	NM_201400.4(EEF2KMT):c.980A>C (p.Asn327Thr)	ALG1, EEF2KMT (N266T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386599	NM_201400.4(EEF2KMT):c.967A>G (p.Met323Val)	ALG1, EEF2KMT (M262V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087330	NM_201400.4(EEF2KMT):c.896G>A (p.Arg299Gln)	ALG1, EEF2KMT (R238Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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Items: 51