ClinVar for MedGen (Select 765249) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3010186	NM_001244710.2(GFPT1):c.741dup (p.Lys248fs)	GFPT1 (K248fs +1 more)	Duplication (frameshift variant)	Congenital myasthenic syndrome 12	GPathogenic
Select item 3001123	NM_001244710.2(GFPT1):c.1689A>T (p.Arg563=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 3000882	NM_001244710.2(GFPT1):c.845+15T>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2999261	NM_001244710.2(GFPT1):c.1204-13_1204-11dup	GFPT1	Duplication (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2985482	NM_001244710.2(GFPT1):c.1324+9A>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2984804	NM_001244710.2(GFPT1):c.1483-10G>A	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2982239	NM_001244710.2(GFPT1):c.544-11T>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2977925	NM_001244710.2(GFPT1):c.1483-13del	GFPT1	Deletion (intron variant)	Congenital myasthenic syndrome 12	GBenign
Select item 2977809	NM_001244710.2(GFPT1):c.1483-18T>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2977747	NM_001244710.2(GFPT1):c.876C>T (p.Ile292=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2955213	NM_001244710.2(GFPT1):c.116-19T>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2916412	NM_001244710.2(GFPT1):c.1569G>A (p.Glu523=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2910139	NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser)	GFPT1 (N53S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2896038	NM_001244710.2(GFPT1):c.948A>G (p.Ala316=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2887580	NM_001244710.2(GFPT1):c.7+11C>T	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2853007	NM_001244710.2(GFPT1):c.1611A>G (p.Glu537=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2822510	NM_001244710.2(GFPT1):c.1074G>A (p.Met358Ile)	GFPT1 (M340I +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2816210	NM_001244710.2(GFPT1):c.686-18dup	GFPT1	Duplication (intron variant)	Congenital myasthenic syndrome 12	GBenign
Select item 2812263	NM_001244710.2(GFPT1):c.408+11T>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2793243	NM_001244710.2(GFPT1):c.547G>A (p.Gly183Ser)	GFPT1 (G183S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2767273	NM_001244710.2(GFPT1):c.686-15G>A	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2766588	NM_001244710.2(GFPT1):c.12A>T (p.Ile4=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2766548	NM_001244710.2(GFPT1):c.1598-16T>A	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2751048	NM_001244710.2(GFPT1):c.1455T>G (p.Gly485=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2747832	NM_001244710.2(GFPT1):c.1009+17T>A	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2739574	NM_001244710.2(GFPT1):c.224-18T>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2736927	NM_001244710.2(GFPT1):c.1725+14G>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2730310	NM_001244710.2(GFPT1):c.845+13A>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2728311	NM_001244710.2(GFPT1):c.33T>C (p.His11=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2728120	NM_001244710.2(GFPT1):c.1944C>T (p.Asn648=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2725565	NM_001244710.2(GFPT1):c.1869T>C (p.Ala623=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2719778	NM_001244710.2(GFPT1):c.1291C>T (p.Arg431Ter)	GFPT1 (R413* +1 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 12	GPathogenic
Select item 2718600	NM_001244710.2(GFPT1):c.1869T>G (p.Ala623=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2716089	NM_001244710.2(GFPT1):c.1726-5A>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2711958	NM_001244710.2(GFPT1):c.1695T>C (p.Tyr565=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2705554	NM_001244710.2(GFPT1):c.1791T>C (p.Pro597=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2705206	NM_001244710.2(GFPT1):c.224-20T>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2702684	NM_001244710.2(GFPT1):c.2016G>A (p.Gln672=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2701163	NM_001244710.2(GFPT1):c.408+12G>T	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2689127	NM_001244710.2(GFPT1):c.1416A>G (p.Ile472Met)	GFPT1 (I454M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2682737	NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)	GFPT1 (V444L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2671795	NM_001244710.2(GFPT1):c.134G>A (p.Gly45Asp)	GFPT1 (G45D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2444328	NM_001244710.2(GFPT1):c.398A>G (p.Lys133Arg)	GFPT1 (K133R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GLikely pathogenic
Select item 2444034	NM_001244710.2(GFPT1):c.1547C>T (p.Ser516Phe)	GFPT1 (S498F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2424023	NC_000002.11:g.(?_69553299)_(69597260_?)dup	GFPT1	Duplication	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2424022	NC_000002.11:g.(?_69573016)_(69575486_?)del	GFPT1	Deletion	Congenital myasthenic syndrome 12	GPathogenic
Select item 2424021	NC_000002.11:g.(?_69583608)_(69583709_?)del	GFPT1	Deletion	Congenital myasthenic syndrome 12	GPathogenic
Select item 2414707	NM_001244710.2(GFPT1):c.468T>G (p.Val156=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2203077	NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)	GFPT1 (T350I +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2202275	NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu)	GFPT1 (G562E +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2197509	NM_001244710.2(GFPT1):c.350-3T>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2195935	NM_001244710.2(GFPT1):c.685+18A>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2190182	NM_001244710.2(GFPT1):c.1296T>C (p.Asp432=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2181061	NM_001244710.2(GFPT1):c.1598-5C>A	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2177136	NM_001244710.2(GFPT1):c.350-4_350-3del	GFPT1	Deletion (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2163474	NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)	GFPT1 (D49Y)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2162308	NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)	GFPT1 (N46S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12 +1 more	GUncertain significance
Select item 2158283	NM_001244710.2(GFPT1):c.1106-9T>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2149202	NM_001244710.2(GFPT1):c.224-11A>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2146658	NM_001244710.2(GFPT1):c.1894-9C>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2146332	NM_001244710.2(GFPT1):c.1598-8C>T	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2135390	NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu)	GFPT1 (G360E +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2132611	NM_001244710.2(GFPT1):c.1726-16G>C	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2118869	NM_001244710.2(GFPT1):c.834T>C (p.Ala278=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2108890	NM_001244710.2(GFPT1):c.2056-9T>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2104878	NM_001244710.2(GFPT1):c.606-19C>T	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2102684	NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del)	GFPT1 (C436del +1 more)	Deletion (inframe_deletion)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2094932	NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)	GFPT1 (F135V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2084899	NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)	GFPT1 (T569P +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2070936	NM_001244710.2(GFPT1):c.740-20A>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2061997	NM_001244710.2(GFPT1):c.686-12G>A	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2057368	NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val)	GFPT1 (I83V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2051742	NM_001244710.2(GFPT1):c.1956G>A (p.Thr652=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2047914	NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)	GFPT1 (K154R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2047428	NM_001244710.2(GFPT1):c.846-17C>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2044891	NM_001244710.2(GFPT1):c.1788C>G (p.Gly596=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2041703	NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)	GFPT1 (R163W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2040359	NM_001244710.2(GFPT1):c.115+17A>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2039364	NM_001244710.2(GFPT1):c.351A>G (p.Glu117=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2036366	NM_001244710.2(GFPT1):c.408+9G>A	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2032942	NM_001244710.2(GFPT1):c.1809A>G (p.Lys603=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 2018529	NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro)	GFPT1 (S218P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 2002398	NM_001244710.2(GFPT1):c.1687C>T (p.Arg563Ter)	GFPT1 (R545* +1 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 12	GPathogenic
Select item 2002370	NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly)	GFPT1 (D36G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 1993320	NM_001244710.2(GFPT1):c.1105+7A>T	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 1984103	NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)	GFPT1 (V351M +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 1983892	NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)	GFPT1 (M431L +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 1979396	NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala)	GFPT1 (T219A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 1979210	NM_001244710.2(GFPT1):c.228A>G (p.Gln76=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 1962577	NM_001244710.2(GFPT1):c.2040G>A (p.Val680=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GBenign
Select item 1957324	NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly)	GFPT1 (R595G +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 1954057	NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys)	GFPT1 (R95C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 1954053	NM_001244710.2(GFPT1):c.1204-13A>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 1949433	NM_001244710.2(GFPT1):c.1851T>G (p.Tyr617Ter)	GFPT1 (Y599* +1 more)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 12	GPathogenic
Select item 1947284	NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)	GFPT1 (L132F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 1946542	NM_001244710.2(GFPT1):c.115+20A>G	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 1939197	NM_001244710.2(GFPT1):c.938A>G (p.Lys313Arg)	GFPT1 (K295R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 1939181	NM_001244710.2(GFPT1):c.644A>G (p.His215Arg)	GFPT1 (H215R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 12	GUncertain significance
Select item 1938217	NM_001244710.2(GFPT1):c.846-13G>A	GFPT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 12	GLikely benign
Select item 1937122	NM_001244710.2(GFPT1):c.2091T>C (p.Thr697=)	GFPT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 12	GLikely benign

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