ClinVar for MedGen (Select 419694) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954181	NM_001382.4(DPAGT1):c.1005+1G>A	DPAGT1	Single nucleotide variant (splice donor variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 2950266	NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2950153	NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)	DPAGT1, LOC126861360 (S57F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2947692	NM_001382.4(DPAGT1):c.162-12G>A	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2946610	NM_001382.4(DPAGT1):c.161+16C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2944655	NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)	DPAGT1 (T142S)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2944371	NM_001382.4(DPAGT1):c.79del (p.Thr27fs)	DPAGT1, LOC126861360 (T27fs)	Deletion (frameshift variant)	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic
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 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 2935723	NM_001382.4(DPAGT1):c.644-12T>G	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2934004	NM_001382.4(DPAGT1):c.283-13G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2933178	NM_001382.4(DPAGT1):c.283-5C>T	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2932010	NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2928996	NM_001382.4(DPAGT1):c.643+17G>C	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +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 2926793	NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)	DPAGT1, LOC126861360 (H92D)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2926630	NM_001382.4(DPAGT1):c.161+9C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2926571	NM_001382.4(DPAGT1):c.162-18C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
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 2924541	NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)	DPAGT1, LOC126861360 (P55A)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
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 2923676	NM_001382.4(DPAGT1):c.282+12C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2922463	NM_001382.4(DPAGT1):c.918-15A>G	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2506955	NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe)	DPAGT1, LOC126861360 (I54F)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2445686	NC_000011.9:g.(118971849_118972204)_(118972786_?)del	DPAGT1	Deletion	DPAGT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 2413589	NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)	DPAGT1 (N143S)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2203841	NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)	DPAGT1, LOC126861360 (V26I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2195787	NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2187000	NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2173325	NM_001382.4(DPAGT1):c.162-15G>A	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
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 2154012	NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2143405	NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)	DPAGT1 (Y244C)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2143387	NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)	LOC126861360, DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2138908	NM_001382.4(DPAGT1):c.1162-14A>G	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2115640	NM_001382.4(DPAGT1):c.161+13A>G	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2111310	NM_001382.4(DPAGT1):c.917+7G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2110410	NM_001382.4(DPAGT1):c.283-17G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2101457	NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +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 2094075	NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)	DPAGT1 (V96L)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2086535	NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)	DPAGT1, LOC126861360 (L41I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2073421	NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)	DPAGT1, LOC126861360 (L41V)	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 2057494	NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2052365	NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)	DPAGT1 (V151E)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2051713	NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)	DPAGT1 (F231L)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2039324	NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)	DPAGT1 (Q400H)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2039259	NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)	DPAGT1 (R403*)	Single nucleotide variant (nonsense)	DPAGT1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2035051	NM_001382.4(DPAGT1):c.1161+18G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2027603	NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2027564	NM_001382.4(DPAGT1):c.282+20T>C	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 2022211	NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2016222	NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)	DPAGT1 (S198T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2016004	NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)	DPAGT1, LOC126861360 (V26A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
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 2009684	NM_001382.4(DPAGT1):c.283-3C>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 2007286	NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)	DPAGT1 (R156S)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2004549	NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)	DPAGT1 (F284L)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1997947	NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)	DPAGT1, LOC126861360 (S5W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1964476	NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)	DPAGT1, LOC126861360 (H35Y)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1962837	NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1962781	NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)	DPAGT1 (F227L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +1 more	GUncertain significance
Select item 1958268	NM_001382.4(DPAGT1):c.162-12G>C	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1956055	NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)	DPAGT1 (R403Q)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1941290	NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1940232	NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1939692	NM_001382.4(DPAGT1):c.453G>A (p.Val151=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
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 1685304	NM_001382.4(DPAGT1):c.643+1G>A	DPAGT1	Single nucleotide variant (splice donor variant)	DPAGT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 1669100	NM_001382.4(DPAGT1):c.621C>T (p.Val207=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1668893	NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1667811	NM_001382.4(DPAGT1):c.663T>C (p.His221=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1646612	NM_001382.4(DPAGT1):c.1006-6C>T	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1625348	NM_001382.4(DPAGT1):c.276C>T (p.His92=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1619138	NM_001382.4(DPAGT1):c.1161+15C>T	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1614208	NM_001382.4(DPAGT1):c.216C>T (p.Cys72=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1606828	NM_001382.4(DPAGT1):c.497-4G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1603379	NM_001382.4(DPAGT1):c.496+17C>T	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1597892	NM_001382.4(DPAGT1):c.162-20C>G	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1597736	NM_001382.4(DPAGT1):c.633A>G (p.Val211=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
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 1585778	NM_001382.4(DPAGT1):c.644-15T>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1585440	NM_001382.4(DPAGT1):c.162-20C>T	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1584126	NM_001382.4(DPAGT1):c.1224C>T (p.Val408=)	DPAGT1	Single nucleotide variant (synonymous 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)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
Select item 1582936	NM_001382.4(DPAGT1):c.471G>A (p.Pro157=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +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 1577114	NM_001382.4(DPAGT1):c.162-18C>G	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +1 more	GLikely benign
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 1558489	NM_001382.4(DPAGT1):c.162-16T>C	DPAGT1, LOC126861360	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1543349	NM_001382.4(DPAGT1):c.930G>A (p.Lys310=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1535563	NM_001382.4(DPAGT1):c.714G>A (p.Leu238=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-related disorder +2 more	GLikely benign
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 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 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 1516029	NM_001382.4(DPAGT1):c.277C>G (p.His93Asp)	LOC126861360, DPAGT1 (H93D)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1509343	NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu)	DPAGT1 (P135L)	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 1499125	NM_001382.4(DPAGT1):c.729-10C>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance

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