"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DPAGT1" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255485	NM_000190.4(HMBS):c.606G>T (p.Val202=)	DPAGT1, HMBS	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 1584126	NM_001382.4(DPAGT1):c.1224C>T (p.Val408=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 302746	NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 1484030	NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn)	DPAGT1 (D407N)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1489823	NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe)	DPAGT1 (L404F)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1956055	NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)	DPAGT1 (R403Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2039259	NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)	DPAGT1 (R403*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 13 +2 more	GUncertain significance
Select item 663782	NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)	DPAGT1 (V402I)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 703939	NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 652219	NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)	DPAGT1 (L401F)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +3 more	GUncertain significance
Select item 2039324	NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)	DPAGT1 (Q400H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 838195	NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln)	DPAGT1 (R398Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +2 more	GUncertain significance
Select item 1361337	NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter)	DPAGT1 (R398*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1530551	NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1438778	NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro)	DPAGT1 (T394P)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 93728	NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)	DPAGT1, HMBS (I393V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +5 more	GBenign
Select item 2027603	NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1518352	NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu)	DPAGT1 (I388L)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2138908	NM_001382.4(DPAGT1):c.1162-14A>G	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2035051	NM_001382.4(DPAGT1):c.1161+18G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 516551	NM_001382.4(DPAGT1):c.1161+16G>A	DPAGT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1619138	NM_001382.4(DPAGT1):c.1161+15C>T	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 798553	NM_001382.4(DPAGT1):c.1161+10G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1583593	NM_001382.4(DPAGT1):c.1161+9G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 857268	NM_001382.4(DPAGT1):c.1161+5G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1118375	NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1009921	NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg)	DPAGT1 (L385R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1463034	NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser)	DPAGT1 (L381S)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 760794	NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1373663	NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)	DPAGT1 (T380I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GLikely pathogenic
Select item 1668893	NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1035261	NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser)	DPAGT1 (P373S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1571852	NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 942896	NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val)	DPAGT1 (L367V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1119513	NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1472081	NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys)	DPAGT1 (E351K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2925852	NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2022211	NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1035230	NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)	DPAGT1 (H346R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +2 more	GConflicting classifications of pathogenicity
Select item 2010698	NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)	DPAGT1 (V345I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 756562	NM_001382.4(DPAGT1):c.1026G>A (p.Leu342=)	DPAGT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1018370	NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val)	DPAGT1 (L342V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1524806	NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe)	DPAGT1 (L340F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 473241	NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala)	DPAGT1 (V336A)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1646612	NM_001382.4(DPAGT1):c.1006-6C>T	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 754492	NM_001382.4(DPAGT1):c.1006-8C>G	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 647040	NM_001382.4(DPAGT1):c.1005+6A>T	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1895994	NM_001382.4(DPAGT1):c.1005+5C>T	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2954181	NM_001382.4(DPAGT1):c.1005+1G>A	DPAGT1	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 13 +1 more	GLikely pathogenic
Select item 965363	NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr)	DPAGT1 (K335T)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 167007	NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)	DPAGT1, HMBS (F332V)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +3 more	GConflicting classifications of pathogenicity
Select item 1595636	NM_001382.4(DPAGT1):c.993C>T (p.Thr331=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1021954	NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp)	DPAGT1 (G330D)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 540460	NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val)	DPAGT1 (L326V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 941063	NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly)	DPAGT1 (E315G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 706605	NM_001382.4(DPAGT1):c.933A>G (p.Thr311=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1543349	NM_001382.4(DPAGT1):c.930G>A (p.Lys310=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 302747	NM_001382.4(DPAGT1):c.918-4G>A	DPAGT1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 511627	NM_001382.4(DPAGT1):c.918-5C>T	DPAGT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 473243	NM_001382.4(DPAGT1):c.918-8C>T	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 664042	NM_001382.4(DPAGT1):c.918-10C>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2922463	NM_001382.4(DPAGT1):c.918-15A>G	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 258077	NM_001382.4(DPAGT1):c.918-18G>A	DPAGT1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 2111310	NM_001382.4(DPAGT1):c.917+7G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 941441	NM_001382.4(DPAGT1):c.917+6C>T	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2169018	NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)	DPAGT1 (R303L)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1509182	NM_001382.4(DPAGT1):c.908G>A (p.Arg303His)	DPAGT1 (R303H)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1180632	NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)	DPAGT1 (R301H)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic
Select item 1041325	NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys)	DPAGT1 (R301C)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2065944	NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 763433	NM_001382.4(DPAGT1):c.879C>T (p.Leu293=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 651456	NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)	DPAGT1 (L290V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +3 more	GUncertain significance
Select item 855421	NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe)	DPAGT1 (L287F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2004549	NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)	DPAGT1 (F284L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 705832	NM_001382.4(DPAGT1):c.828A>G (p.Leu276=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1100325	NM_001382.4(DPAGT1):c.822C>T (p.Thr274=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1577872	NM_001382.4(DPAGT1):c.810C>T (p.His270=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 582259	NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)	DPAGT1 (V264M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2195787	NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 957811	NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp)	DPAGT1 (A258D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1451203	NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs)	DPAGT1 (C255fs)	Deletion (frameshift variant)	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 1378581	NM_001382.4(DPAGT1):c.750G>A (p.Val250=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2936152	NM_001382.4(DPAGT1):c.744G>A (p.Val248=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 521719	NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)	DPAGT1 (R247W)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 1137994	NM_001382.4(DPAGT1):c.735A>G (p.Pro245=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2927002	NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)	DPAGT1 (Y244*)	Single nucleotide variant (nonsense)	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 2143405	NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)	DPAGT1 (Y244C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 386275	NM_001382.4(DPAGT1):c.729-4A>C	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +4 more	GConflicting classifications of pathogenicity
Select item 1499125	NM_001382.4(DPAGT1):c.729-10C>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2937989	NM_001382.4(DPAGT1):c.729-16C>G	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2923939	NM_001382.4(DPAGT1):c.729-16C>T	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 723682	NM_001382.4(DPAGT1):c.728+9G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1040359	NM_001382.4(DPAGT1):c.728+6T>C	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 302748	NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)	DPAGT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1016245	NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe)	DPAGT1 (L239F)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1535563	NM_001382.4(DPAGT1):c.714G>A (p.Leu238=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2097213	NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)	DPAGT1 (G237A)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1383135	NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala)	DPAGT1 (T234A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 36920	NM_001382.4(DPAGT1):c.699dup (p.Thr234fs)	DPAGT1 (T234fs)	Duplication (frameshift variant)	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 1011872	NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser)	DPAGT1 (F232S)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance

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