ClinVar for MedGen (Select 376153) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236361	NM_005271.5(GLUD1):c.1225A>G (p.Thr409Ala)	GLUD1 (T242A +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 3018484	NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)	GLUD1, SHLD2 (E71A)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 3015671	NM_005271.5(GLUD1):c.174C>A (p.Ala58=)	SHLD2, GLUD1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 3014990	NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 3014326	NM_005271.5(GLUD1):c.78G>A (p.Ser26=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2966069	NM_005271.5(GLUD1):c.582+7A>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2916188	NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)	GLUD1 (N392S +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2915994	NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2912998	NM_005271.5(GLUD1):c.742-8del	GLUD1	Deletion (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2895308	NM_005271.5(GLUD1):c.647-14C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2883537	NM_005271.5(GLUD1):c.1647G>C (p.Val549=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2866781	NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2850362	NM_005271.5(GLUD1):c.582+18A>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GBenign
Select item 2840991	NM_005271.5(GLUD1):c.108G>A (p.Gln36=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2808641	NM_005271.5(GLUD1):c.803G>A (p.Arg268His)	GLUD1 (R135H +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2787339	NM_005271.5(GLUD1):c.273C>T (p.Thr91=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2757531	NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)	GLUD1 (Y152N +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2715890	NM_005271.5(GLUD1):c.1198-9C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GBenign
Select item 2627436	NM_005271.5(GLUD1):c.757G>A (p.Ala253Thr)	GLUD1 (A120T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2573541	NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)	GLUD1 (H188Y +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2432172	NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)	GLUD1 (F205L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2431524	NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)	GLUD1 (Y107C +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2425334	NC_000010.10:g.(?_88854062)_(88854526_?)del	GLUD1	Deletion	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2415310	NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2169324	NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)	GLUD1, SHLD2 (R60S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2168245	NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)	GLUD1, SHLD2 (D83N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2164734	NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)	GLUD1, LOC130004255 +1 more (A18V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2143016	NM_005271.5(GLUD1):c.526+10C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2140717	NM_005271.5(GLUD1):c.1197+20C>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2135702	NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)	GLUD1 (R453H +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2132873	NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)	GLUD1 (S169G +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2124882	NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 2101422	NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)	GLUD1, LOC130004255 +1 more	Deletion (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2061466	NM_005271.5(GLUD1):c.962A>G (p.His321Arg)	GLUD1 (H154R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2037106	NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)	GLUD1, LOC130004255 +1 more (R13W)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 2004614	NM_005271.5(GLUD1):c.1279-19G>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1981798	NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)	GLUD1 (R103G)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1980035	NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)	GLUD1 (A154T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1974512	NM_005271.5(GLUD1):c.1558-5T>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1954823	NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)	GLUD1 (I219V +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1943344	NM_005271.5(GLUD1):c.297G>C (p.Arg99=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1937004	NM_005271.5(GLUD1):c.1197+5C>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1935562	NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)	GLUD1, LOC130004255 +1 more (Q36R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1912578	NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)	GLUD1 (P356R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1803144	NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)	GLUD1 (S190F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1802279	NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)	GLUD1 (H148Y +2 more)	Single nucleotide variant (missense variant)	Familial hyperinsulinism +1 more	GPathogenic/Likely pathogenic
Select item 1759569	NM_005271.5(GLUD1):c.756C>T (p.His252=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1722022	NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)	GLUD1, SHLD2 (K68R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1698788	NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr)	GLUD1 (R293T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1696747	NM_005271.5(GLUD1):c.446-5634T>C	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1685333	NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)	GLUD1 (G332A +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely pathogenic
Select item 1679647	NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)	GLUD1 (M301L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1674019	NM_005271.5(GLUD1):c.527-4T>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1670560	NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr)	GLUD1 (I318T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1634681	NM_005271.5(GLUD1):c.527-12C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1631263	NM_005271.5(GLUD1):c.534G>T (p.Pro178=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1630635	NM_005271.5(GLUD1):c.594G>A (p.Leu198=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1616238	NM_005271.5(GLUD1):c.432G>T (p.Thr144=)	GLUD1, LOC130004254	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1601528	NM_005271.5(GLUD1):c.1647G>A (p.Val549=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GBenign
Select item 1598712	NM_005271.5(GLUD1):c.1198-9C>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GBenign
Select item 1586626	NM_005271.5(GLUD1):c.526+11G>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1572387	NM_005271.5(GLUD1):c.1495-14C>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1534438	NM_005271.5(GLUD1):c.168G>A (p.Ala56=)	GLUD1, SHLD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1508385	NM_005271.5(GLUD1):c.415C>T (p.His139Tyr)	GLUD1, LOC130004254 (H139Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1490186	NM_005271.5(GLUD1):c.646+3A>G	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1449697	NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)	GLUD1 (F360L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1438940	NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)	GLUD1 (P356L +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1436788	NC_000010.10:g.(?_88811508)_(88822612_?)dup	GLUD1	Duplication	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1431768	NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)	GLUD1 (V413A +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1376480	NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile)	GLUD1 (F284I +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1342359	NM_005271.5(GLUD1):c.240C>G (p.Ile80Met)	GLUD1, SHLD2 (I80M)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1339165	NM_005271.5(GLUD1):c.1111A>G (p.Ile371Val)	GLUD1 (I204V +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1338629	NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)	GLUD1 (R151T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1158886	NM_005271.5(GLUD1):c.133C>T (p.Leu45=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1112781	NM_005271.5(GLUD1):c.102G>C (p.Arg34=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1109656	NM_005271.5(GLUD1):c.1344T>C (p.His448=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1105210	NM_005271.5(GLUD1):c.739T>C (p.Tyr247His)	GLUD1 (Y114H +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1099454	NM_005271.5(GLUD1):c.48C>G (p.Pro16=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1093270	NM_005271.5(GLUD1):c.456C>T (p.Tyr152=)	GLUD1	Single nucleotide variant (synonymous variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1079709	NM_005271.5(GLUD1):c.446-9C>T	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GLikely benign
Select item 1072420	NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)	GLUD1 (K336E +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GPathogenic
Select item 1030901	NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)	GLUD1 (I113T +2 more)	Single nucleotide variant (missense variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1019363	NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)	GLUD1 (R151P +1 more)	Single nucleotide variant (missense variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1010602	NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)	GLUD1, SHLD2 (M1I)	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 1007983	NM_005271.5(GLUD1):c.1198-11CT[2]	GLUD1	Microsatellite (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 982988	NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)	GLUD1	Single nucleotide variant (synonymous variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 970685	NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)	GLUD1, LOC130004255 +1 more (A46T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 968471	NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)	GLUD1 (R523H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 930939	NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)	GLUD1, SHLD2 (R76C)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 880413	NM_005271.5(GLUD1):c.1279-3T>C	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 880412	NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)	GLUD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 879214	NM_005271.5(GLUD1):c.*469C>A	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 879213	NM_005271.5(GLUD1):c.*868A>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 878673	NM_005271.5(GLUD1):c.55C>T (p.Leu19=)	GLUD1, LOC130004255 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 878672	NM_005271.5(GLUD1):c.330G>A (p.Lys110=)	GLUD1	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperinsulinism-hyperammonemia syndrome	GConflicting classifications of pathogenicity
Select item 878616	NM_005271.5(GLUD1):c.*998C>T	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 878615	NM_005271.5(GLUD1):c.*1139T>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 878614	NM_005271.5(GLUD1):c.*1181C>A	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 878613	NM_005271.5(GLUD1):c.*1211T>C	GLUD1	Single nucleotide variant (3 prime UTR variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance
Select item 877652	NM_005271.5(GLUD1):c.1279-6G>A	GLUD1	Single nucleotide variant (intron variant)	Hyperinsulinism-hyperammonemia syndrome	GUncertain significance

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