ClinVar for MedGen (Select 322026) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 160

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362532	NM_005787.6(ALG3):c.-313A>G	ALG3, LOC129938049 (N9D)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 3251416	NM_005787.6(ALG3):c.67C>T (p.Gln23Ter)	ALG3 (Q23*)	Single nucleotide variant (nonsense +2 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 3064907	NM_005787.6(ALG3):c.664CTC[1] (p.Leu223del)	ALG3 (L175del +2 more)	Microsatellite (inframe_deletion +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2977592	NM_005787.6(ALG3):c.918C>T (p.Leu306=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2977544	NM_005787.6(ALG3):c.196+16G>A	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2896991	NM_005787.6(ALG3):c.445-17C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2882534	NM_005787.6(ALG3):c.888C>T (p.Ala296=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2871802	NM_005787.6(ALG3):c.297-11T>C	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2838857	NM_005787.6(ALG3):c.58C>T (p.Leu20Phe)	ALG3 (L20F)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2780035	NM_005787.6(ALG3):c.1188G>A (p.Trp396Ter)	ALG3 (W396* +2 more)	Single nucleotide variant (nonsense +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2772514	NM_005787.6(ALG3):c.297-19A>G	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2741581	NM_005787.6(ALG3):c.1242C>T (p.Ala414=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2741374	NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)	ALG3 (Q16fs)	Duplication (frameshift variant +2 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 2734602	NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)	ALG3 (R306C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2732576	NM_005787.6(ALG3):c.456C>T (p.Phe152=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2721808	NM_005787.6(ALG3):c.717T>G (p.Ala239=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2716661	NM_005787.6(ALG3):c.1009+14T>G	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2696660	NM_005787.6(ALG3):c.933-20_933-17del	ALG3	Deletion (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2671826	NM_005787.6(ALG3):c.487C>T (p.Arg163Cys)	ALG3, EEF1AKMT4 +3 more (R115C +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	CAMK2N2, CLCN2 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2187573	NM_005787.6(ALG3):c.606-18C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2186442	NM_005787.6(ALG3):c.1014C>A (p.Ile338=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2181576	NM_005787.6(ALG3):c.79C>G (p.Arg27Gly)	ALG3 (R27G +1 more)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2160332	NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)	ALG3 (E18G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2159626	NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp)	ALG3 (C404W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2151586	NM_005787.6(ALG3):c.1254G>A (p.Leu418=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2148388	NM_005787.6(ALG3):c.639C>A (p.Leu213=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2136969	NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)	ALG3 (R122C +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2111850	NM_005787.6(ALG3):c.579C>T (p.Arg193=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2111664	NM_005787.6(ALG3):c.296+20T>C	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2071696	NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)	ALG3 (R330C +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2067265	NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)	ALG3 (C21F)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2066390	NM_005787.6(ALG3):c.50C>T (p.Ala17Val)	ALG3 (A17V)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2060733	NM_005787.6(ALG3):c.945T>C (p.Ser315=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 2059983	NM_005787.6(ALG3):c.890A>G (p.His297Arg)	ALG3 (H249R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2058076	NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2052594	NM_005787.6(ALG3):c.457G>A (p.Val153Ile)	ALG3 (V153I +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2006664	NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)	ALG3 (S267N +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 2000151	NM_005787.6(ALG3):c.1188dup (p.Asn397fs)	ALG3 (N397fs +1 more)	Duplication (frameshift variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1992210	NM_005787.6(ALG3):c.30G>C (p.Arg10=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1982358	NM_005787.6(ALG3):c.33C>A (p.Ser11=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1982162	NM_005787.6(ALG3):c.1014C>T (p.Ile338=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1971332	NM_005787.6(ALG3):c.34G>C (p.Gly12Arg)	ALG3 (G12R)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1957110	NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)	ALG3 (R181C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1951408	NM_005787.6(ALG3):c.11G>T (p.Gly4Val)	ALG3 (G4V)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1940955	NM_005787.6(ALG3):c.932+10G>A	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1919895	NM_005787.6(ALG3):c.445-19T>C	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1909972	NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)	ALG3 (C21G)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1902921	NM_005787.6(ALG3):c.347G>C (p.Ser116Thr)	ALG3 (S116T +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1805323	NM_005787.6(ALG3):c.503T>C (p.Phe168Ser)	ALG3 (F120S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1716901	NM_005787.6(ALG3):c.101T>C (p.Leu34Pro)	ALG3 (L34P)	Single nucleotide variant (synonymous variant +3 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1624305	NM_005787.6(ALG3):c.605+9C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1608638	NM_005787.6(ALG3):c.18G>A (p.Arg6=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1592152	NM_005787.6(ALG3):c.196+19del	ALG3	Deletion (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1572500	NM_005787.6(ALG3):c.296+13A>C	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1571109	NM_005787.6(ALG3):c.312C>T (p.Phe104=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1556257	NM_005787.6(ALG3):c.321C>T (p.Ile107=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1519679	NM_005787.6(ALG3):c.863C>T (p.Ala288Val)	ALG3 (A240V +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1487042	NM_005787.6(ALG3):c.929A>G (p.His310Arg)	ALG3 (H310R +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1486904	NM_005787.6(ALG3):c.977G>A (p.Arg326Lys)	ALG3 (R278K +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1437563	NM_005787.6(ALG3):c.812A>G (p.His271Arg)	ALG3 (H223R +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1428388	NM_005787.6(ALG3):c.16C>T (p.Arg6Trp)	ALG3 (R6W)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1351589	NM_005787.6(ALG3):c.223A>G (p.Met75Val)	ALG3 (M27V +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1339096	NM_005787.6(ALG3):c.545T>C (p.Leu182Pro)	ALG3 (L134P +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1310928	NM_005787.6(ALG3):c.985C>G (p.Pro329Ala)	ALG3 (P281A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1208663	NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr)	ALG3 (F379Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1184852	NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu)	ALG3	Insertion (inframe_insertion +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 1184851	NM_005787.6(ALG3):c.521A>G (p.Asn174Ser)	ALG3 (N126S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 1184850	NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr)	ALG3 (R337T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 1184849	NM_005787.6(ALG3):c.611C>T (p.Ala204Val)	ALG3 (A156V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1184848	NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)	ALG3 (R218C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1184847	NM_005787.6(ALG3):c.749T>A (p.Leu250Gln)	ALG3 (L202Q +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1184846	NM_005787.6(ALG3):c.656T>C (p.Leu219Pro)	ALG3 (L171P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1176164	NM_005787.6(ALG3):c.294T>A (p.Leu98=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1172674	NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)	ALG3 (W24*)	Single nucleotide variant (nonsense +2 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 1158658	NM_005787.6(ALG3):c.633G>A (p.Val211=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1129108	NM_005787.6(ALG3):c.1215C>T (p.Ser405=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GLikely benign
Select item 1054881	NM_005787.6(ALG3):c.550C>T (p.Leu184Phe)	ALG3 (L136F +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1053045	NM_005787.6(ALG3):c.1061G>A (p.Arg354His)	ALG3 (R306H +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GPathogenic
Select item 1033185	NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp)	ALG3, LOC129938049 (G16W)	Single nucleotide variant (missense variant)	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1031574	NM_005787.6(ALG3):c.296+5G>A	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1024844	NM_005787.6(ALG3):c.332T>G (p.Leu111Trp)	ALG3 (L111W +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1018481	NM_005787.6(ALG3):c.82G>C (p.Ala28Pro)	ALG3 (A28P)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 1004509	NM_005787.6(ALG3):c.248A>G (p.Asn83Ser)	ALG3 (N35S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 996585	NM_005787.6(ALG3):c.953C>T (p.Ser318Leu)	ALG3 (S270L +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 992319	NM_005787.6(ALG3):c.1108T>C (p.Tyr370His)	ALG3 (Y322H +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 988294	NM_005787.6(ALG3):c.349C>T (p.Arg117Ter)	ALG3 (R117* +1 more)	Single nucleotide variant (nonsense +1 more)	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 988293	NM_005787.6(ALG3):c.2T>C (p.Met1Thr)	ALG3 (M1T)	Single nucleotide variant (missense variant +3 more)	ALG3-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 962232	NM_005787.6(ALG3):c.1243G>A (p.Val415Ile)	ALG3 (V415I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 930451	NM_005787.6(ALG3):c.444+2T>G	ALG3	Single nucleotide variant (splice donor variant)	ALG3-congenital disorder of glycosylation	GLikely pathogenic
Select item 903315	NM_005787.6(ALG3):c.304G>T (p.Ala102Ser)	ALG3 (A102S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 903314	NM_005787.6(ALG3):c.347G>T (p.Ser116Ile)	ALG3 (S116I +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 903313	NM_005787.6(ALG3):c.469A>G (p.Met157Val)	ALG3 (M157V +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 903312	NM_005787.6(ALG3):c.544C>T (p.Leu182Phe)	ALG3 (L134F +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 902454	NM_005787.6(ALG3):c.696C>T (p.Leu232=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 902453	NM_005787.6(ALG3):c.778C>T (p.Arg260Cys)	ALG3 (R212C +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 900790	NM_005787.6(ALG3):c.971C>G (p.Ser324Cys)	ALG3 (S276C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 900789	NM_005787.6(ALG3):c.1015G>A (p.Val339Ile)	ALG3 (V339I +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 900788	NM_005787.6(ALG3):c.1077G>A (p.Gln359=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 899710	NM_005787.5(ALG3):c.-31G>A	ALG3	Single nucleotide variant (non-coding transcript variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance

<< First< Prev

Page of 2