ClinVar for Gene (Select 56052) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 998

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896158	NM_019109.5(ALG1):c.211T>C (p.Ser71Pro)	ALG1 (S71P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3851886	NM_019109.5(ALG1):c.671A>G (p.Glu224Gly)	ALG1 (E113G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3851868	NM_019109.5(ALG1):c.703A>T (p.Met235Leu)	ALG1 (M124L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3851847	NM_019109.5(ALG1):c.121G>C (p.Gly41Arg)	ALG1, LOC130058384 (G41R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3851836	NM_019109.5(ALG1):c.92C>T (p.Ala31Val)	ALG1 (A31V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3843511	NM_201400.4(EEF2KMT):c.901G>A (p.Gly301Arg)	ALG1, EEF2KMT (G267R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3776269	NM_019109.5(ALG1):c.901+6T>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3775880	NM_019109.5(ALG1):c.961+1G>T	ALG1	Single nucleotide variant (splice donor variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3726058	NM_019109.5(ALG1):c.1264-12_1264-6del	ALG1, EEF2KMT	Deletion (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3721749	NM_019109.5(ALG1):c.1040G>A (p.Trp347Ter)	ALG1 (W236* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3717569	NM_019109.5(ALG1):c.1128C>T (p.Pro376=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3716053	NM_019109.5(ALG1):c.171C>T (p.Ala57=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3712642	NM_019109.5(ALG1):c.391-4C>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3708285	NM_019109.5(ALG1):c.294C>T (p.Pro98=)	ALG1	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3697192	NM_019109.5(ALG1):c.391-15C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3695453	NM_019109.5(ALG1):c.208+7G>T	ALG1, LOC130058384	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3694530	NM_019109.5(ALG1):c.444T>C (p.Cys148=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3692369	NM_019109.5(ALG1):c.9C>G (p.Ala3=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3684904	NM_019109.5(ALG1):c.863-1G>A	ALG1	Single nucleotide variant (splice acceptor variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3683233	NM_019109.5(ALG1):c.1170T>A (p.Cys390Ter)	ALG1 (C279* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3679044	NM_019109.5(ALG1):c.57G>A (p.Leu19=)	LOC130058383, ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3679038	NM_019109.5(ALG1):c.87G>C (p.Gly29=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3668552	NM_019109.5(ALG1):c.489C>T (p.Ile163=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3662893	NM_019109.5(ALG1):c.539+5G>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3659230	NM_019109.5(ALG1):c.209-12C>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3658048	NM_019109.5(ALG1):c.999C>A (p.Ile333=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3657285	NM_019109.5(ALG1):c.688C>T (p.Gln230Ter)	ALG1 (Q230* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3656191	NM_019109.5(ALG1):c.501G>A (p.Val167=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3655000	NM_019109.5(ALG1):c.1238C>A (p.Ser413Ter)	ALG1 (S302* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3654362	NM_019109.5(ALG1):c.209-16C>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3646188	NM_019109.5(ALG1):c.962-10C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3646157	NM_019109.5(ALG1):c.390+19C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3644126	NM_019109.5(ALG1):c.1188-19C>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3642784	NM_019109.5(ALG1):c.862+13C>G	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3640331	NM_019109.5(ALG1):c.741-1G>T	ALG1	Single nucleotide variant (splice acceptor variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3637352	NM_019109.5(ALG1):c.198G>T (p.Leu66=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3632136	NM_019109.5(ALG1):c.838C>T (p.Leu280=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3632040	NM_019109.5(ALG1):c.1371G>A (p.Val457=)	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3630518	NM_019109.5(ALG1):c.209-14T>C	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3622044	NM_019109.5(ALG1):c.37C>T (p.Leu13=)	LOC130058383, ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3619248	NM_019109.5(ALG1):c.1002C>T (p.His334=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3616608	NM_019109.5(ALG1):c.266C>G (p.Thr89Arg)	ALG1 (T89R)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3612674	NM_019109.5(ALG1):c.114G>A (p.Val38=)	ALG1, LOC130058384	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3610138	NM_019109.5(ALG1):c.961+14C>T	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3604458	NM_019109.5(ALG1):c.675A>G (p.Thr225=)	ALG1	Single nucleotide variant (synonymous variant)	ALG1-congenital disorder of glycosylation	GLikely benign
Select item 3580798	NM_019109.5(ALG1):c.1348G>A (p.Asp450Asn)	ALG1, EEF2KMT (D450N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580797	NM_019109.5(ALG1):c.1265T>C (p.Met422Thr)	ALG1, EEF2KMT (M422T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580796	NM_019109.5(ALG1):c.1264-2A>G	ALG1, EEF2KMT	Single nucleotide variant (3 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3580795	NM_019109.5(ALG1):c.1261C>T (p.Gln421Ter)	ALG1 (Q310* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3580794	NM_019109.5(ALG1):c.1250C>T (p.Ala417Val)	ALG1 (A306V +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580793	NM_019109.5(ALG1):c.1187+2T>C	ALG1	Single nucleotide variant (splice donor variant)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3580791	NM_019109.5(ALG1):c.1061C>G (p.Pro354Arg)	ALG1 (P243R +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580790	NM_019109.5(ALG1):c.1051G>T (p.Glu351Ter)	ALG1 (E240* +1 more)	Single nucleotide variant (nonsense)	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3580789	NM_019109.5(ALG1):c.989del (p.Ser330fs)	ALG1 (S219fs +1 more)	Deletion (frameshift variant)	ALG1-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 3580788	NM_019109.5(ALG1):c.935_936inv (p.Leu312Gln)	ALG1 (L201Q +1 more)	Inversion (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580787	NM_019109.5(ALG1):c.920T>C (p.Leu307Pro)	ALG1 (L307P +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580786	NM_019109.5(ALG1):c.902-1G>C	ALG1	Single nucleotide variant (splice acceptor variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3580785	NM_019109.5(ALG1):c.838C>A (p.Leu280Met)	ALG1 (L280M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3580784	NM_019109.5(ALG1):c.775G>A (p.Ala259Thr)	ALG1 (A259T +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580783	NM_019109.5(ALG1):c.733A>G (p.Arg245Gly)	ALG1 (R134G +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580782	NM_019109.5(ALG1):c.662T>C (p.Phe221Ser)	ALG1 (F110S +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580781	NM_019109.5(ALG1):c.653C>A (p.Pro218His)	ALG1 (P107H +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580780	NM_019109.5(ALG1):c.646G>A (p.Asp216Asn)	ALG1 (D105N +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580779	NM_019109.5(ALG1):c.629+12T>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580778	NM_019109.5(ALG1):c.611C>T (p.Ala204Val)	ALG1 (A93V +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580777	NM_019109.5(ALG1):c.540-19T>A	ALG1	Single nucleotide variant (intron variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580776	NM_019109.5(ALG1):c.509C>T (p.Pro170Leu)	ALG1 (P170L +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580774	NM_019109.5(ALG1):c.482A>G (p.Tyr161Cys)	ALG1 (Y161C +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580773	NM_019109.5(ALG1):c.400G>A (p.Gly134Ser)	ALG1 (G23S +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580772	NM_019109.5(ALG1):c.364G>C (p.Glu122Gln)	ALG1 (E11Q +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580771	NM_019109.5(ALG1):c.357G>A (p.Met119Ile)	ALG1 (M119I +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580770	NM_019109.5(ALG1):c.305A>C (p.Gln102Pro)	ALG1 (Q102P)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580768	NM_019109.5(ALG1):c.287-1G>C	ALG1	Single nucleotide variant (splice acceptor variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3580767	NM_019109.5(ALG1):c.275A>C (p.Gln92Pro)	ALG1 (Q92P)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580766	NM_019109.5(ALG1):c.255T>G (p.Ile85Met)	ALG1 (I85M)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580765	NM_019109.5(ALG1):c.253A>T (p.Ile85Phe)	ALG1 (I85F)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580764	NM_019109.5(ALG1):c.209-2A>T	ALG1	Single nucleotide variant (splice acceptor variant)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3580763	NM_019109.5(ALG1):c.193C>G (p.Leu65Val)	LOC130058384, ALG1 (L65V)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580762	NM_019109.5(ALG1):c.125A>G (p.Asp42Gly)	ALG1, LOC130058384 (D42G)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580761	NM_019109.5(ALG1):c.78G>C (p.Trp26Cys)	ALG1, LOC130058383 (W26C)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580760	NM_019109.5(ALG1):c.69G>C (p.Trp23Cys)	ALG1, LOC130058383 (W23C)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580759	NM_019109.5(ALG1):c.46C>T (p.Pro16Ser)	ALG1, LOC130058383 (P16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3580758	NM_019109.5(ALG1):c.22C>G (p.Leu8Val)	ALG1 (L8V)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580757	NM_019109.5(ALG1):c.20T>A (p.Val7Asp)	ALG1 (V7D)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3580756	NM_019109.5(ALG1):c.1A>G (p.Met1Val)	ALG1 (M1V)	Single nucleotide variant (missense variant +1 more)	ALG1-congenital disorder of glycosylation	GLikely pathogenic
Select item 3520337	NM_019109.5(ALG1):c.517C>T (p.Pro173Ser)	ALG1 (P173S +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3520328	NM_019109.5(ALG1):c.943C>G (p.Leu315Val)	ALG1 (L204V +1 more)	Single nucleotide variant (missense variant)	ALG1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 3520322	NM_019109.5(ALG1):c.520C>T (p.Leu174Phe)	ALG1 (L174F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391856	GRCh37/hg19 16p13.3(chr16:513767-5555136)x3	ABCA3, ADCY9 +168 more	Copy number gain	not provided	GPathogenic
Select item 3391855	GRCh37/hg19 16p13.3-13.13(chr16:85881-12268399)x3	ABAT, ABCA3 +221 more	Copy number gain	not provided	GPathogenic
Select item 3391041	NM_019109.5(ALG1):c.215A>T (p.Lys72Ile)	ALG1 (K72I)	Single nucleotide variant (5 prime UTR variant +1 more)	ALG1-congenital disorder of glycosylation	GUncertain significance
Select item 3347363	NM_019109.5(ALG1):c.1149_1150delinsT (p.Cys385fs)	ALG1 (C274fs +1 more)	Indel (frameshift variant)	ALG1-related disorder	GLikely pathogenic
Select item 3283932	NM_019109.5(ALG1):c.1120G>A (p.Asp374Asn)	ALG1 (D374N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283921	NM_019109.5(ALG1):c.1339C>T (p.Leu447Phe)	ALG1, EEF2KMT (L447F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3283910	NM_019109.5(ALG1):c.629+4C>A	ALG1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3274561	NM_201400.4(EEF2KMT):c.926G>A (p.Arg309His)	ALG1, EEF2KMT (R275H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257574	GRCh37/hg19 16p13.3(chr16:5127446-5129808)x1	ALG1	Copy number loss	not provided	GPathogenic
Select item 3243500	NC_000016.9:g.(?_5127426)_(5129828_?)del	ALG1	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243499	NC_000016.9:g.(?_5127426)_(5134882_?)del	ALG1, EEF2KMT	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic
Select item 3243498	NC_000016.9:g.(?_5133663)_(5134882_?)del	ALG1, EEF2KMT	Deletion	ALG1-congenital disorder of glycosylation	GPathogenic

<< First< Prev

Page of 10