473[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155444	GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3	AMT, C3orf62 +29 more	Copy number gain	See cases	GUncertain significance
Select item 346021	NM_000481.4(AMT):c.*696C>T	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 346022	NM_000481.4(AMT):c.*678C>G	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 899656	NM_000481.4(AMT):c.*621A>G	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 899657	NM_000481.4(AMT):c.*616C>T	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346023	NM_000481.4(AMT):c.*545C>T	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 346024	NM_000481.4(AMT):c.*424G>C	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 900802	NM_000481.4(AMT):c.*416C>T	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 346025	NM_000481.4(AMT):c.*407T>C	AMT	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346026	NM_000481.4(AMT):c.*163G>C	AMT	Single nucleotide variant (3 prime UTR variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346027	NM_000481.4(AMT):c.*130G>T	AMT	Single nucleotide variant (3 prime UTR variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 553667	NM_000481.4(AMT):c.*86G>T	AMT	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 554761	NM_000481.4(AMT):c.1209del (p.Lys403fs)	AMT (K347fs +2 more)	Deletion (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1567896	NM_000481.4(AMT):c.1206C>G (p.Leu402=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1442556	NM_000481.4(AMT):c.1204_1206del (p.Leu402del)	AMT (L358del +2 more)	Deletion (inframe_deletion +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1931073	NM_000481.4(AMT):c.1204C>T (p.Leu402Phe)	AMT (L346F +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1556537	NM_000481.4(AMT):c.1203C>T (p.Thr401=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1052844	NM_000481.4(AMT):c.1202C>A (p.Thr401Asn)	AMT (T345N +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 553002	NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs)	AMT (Y344fs +2 more)	Indel (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1988801	NM_000481.4(AMT):c.1199A>C (p.Tyr400Ser)	AMT (Y400S +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 900803	NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys)	AMT (Y400C +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 2173098	NM_000481.4(AMT):c.1198T>C (p.Tyr400His)	AMT (Y356H +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1109882	NM_000481.4(AMT):c.1197C>T (p.Tyr399=)	AMT	Single nucleotide variant (intron variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1642987	NM_000481.4(AMT):c.1191A>C (p.Thr397=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 346028	NM_000481.4(AMT):c.1190C>A (p.Thr397Lys)	AMT (T397K +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 2076615	NM_000481.4(AMT):c.1187C>T (p.Pro396Leu)	AMT (P352L +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1953549	NM_000481.4(AMT):c.1181T>C (p.Phe394Ser)	AMT (F350S +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 2062596	NM_000481.4(AMT):c.1164A>C (p.Val388=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1980331	NM_000481.4(AMT):c.1162G>A (p.Val388Ile)	AMT (V332I +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 531766	NM_000481.4(AMT):c.1157T>C (p.Met386Thr)	AMT (M386T +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 2180852	NM_000481.4(AMT):c.1155G>C (p.Gln385His)	AMT (Q385H +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 551593	NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del)	AMT (Q385del +2 more)	Microsatellite (inframe_deletion +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 551610	NM_000481.4(AMT):c.1153C>T (p.Gln385Ter)	AMT (Q385* +2 more)	Single nucleotide variant (nonsense +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 235658	NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)	AMT (R382Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2044611	NM_000481.4(AMT):c.1142G>A (p.Arg381Gln)	AMT (R337Q +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 1490495	NM_000481.4(AMT):c.1141C>A (p.Arg381=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 952255	NM_000481.4(AMT):c.1141C>T (p.Arg381Trp)	AMT (R381W +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1575270	NM_000481.4(AMT):c.1140G>C (p.Val380=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 853849	NM_000481.4(AMT):c.1138G>A (p.Val380Met)	AMT (V324M +2 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 900804	NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)	AMT (E335A +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +2 more	GUncertain significance
Select item 1542325	NM_000481.4(AMT):c.1134A>C (p.Val378=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2132000	NM_000481.4(AMT):c.1131G>A (p.Leu377=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1118924	NM_000481.4(AMT):c.1128G>C (p.Leu376=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2092698	NM_000481.4(AMT):c.1124T>C (p.Met375Thr)	AMT (M331T +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1633777	NM_000481.4(AMT):c.1122A>G (p.Thr374=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 531761	NM_000481.4(AMT):c.1112G>A (p.Arg371His)	AMT (R371H +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 1413810	NM_000481.4(AMT):c.1111C>T (p.Arg371Cys)	AMT (R315C +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1929297	NM_000481.4(AMT):c.1108A>G (p.Ser370Gly)	AMT (S370G +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 962887	NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer)	AMT	Deletion (nonsense +1 more)	Non-ketotic hyperglycinemia +1 more	GPathogenic
Select item 2637479	NM_000481.4(AMT):c.1106A>G (p.Tyr369Cys)	AMT (Y313C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1583776	NM_000481.4(AMT):c.1104G>A (p.Glu368=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2765422	NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)	AMT (E324* +2 more)	Single nucleotide variant (nonsense +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2203393	NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)	AMT (C311* +2 more)	Single nucleotide variant (nonsense +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 1399613	NM_000481.4(AMT):c.1101C>T (p.Cys367=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2484242	NM_000481.4(AMT):c.1099T>G (p.Cys367Gly)	AMT (C311G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1554624	NM_000481.4(AMT):c.1098C>T (p.Pro366=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 857242	NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)	AMT (P310L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1579813	NM_000481.4(AMT):c.1095G>A (p.Val365=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1128797	NM_000481.4(AMT):c.1092T>C (p.Tyr364=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2081840	NM_000481.4(AMT):c.1089T>C (p.Gly363=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2076937	NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)	AMT (G363S +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 554115	NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)	AMT (G363R +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 798714	NM_000481.4(AMT):c.1083G>A (p.Ala361=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 462897	NM_000481.4(AMT):c.1082C>T (p.Ala361Val)	AMT (A361V +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 2854597	NM_000481.4(AMT):c.1079_1080del (p.Val360fs)	AMT (V316fs +2 more)	Microsatellite (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 1099318	NM_000481.4(AMT):c.1077T>C (p.Asn359=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1687275	NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)	AMT (K302del +2 more)	Microsatellite (inframe_deletion +1 more)	Glycine encephalopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 1515490	NM_000481.4(AMT):c.1076A>C (p.Asn359Thr)	AMT (N315T +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1967724	NM_000481.4(AMT):c.1073A>C (p.Lys358Thr)	AMT (K314T +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 2431653	NM_000481.4(AMT):c.1066_1067del (p.Leu356fs)	AMT (L300fs +2 more)	Microsatellite (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 2676723	NM_000481.4(AMT):c.1063dup (p.Ser355fs)	AMT (S299fs +2 more)	Duplication (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 1085900	NM_000481.4(AMT):c.1062C>G (p.Pro354=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1079167	NM_000481.4(AMT):c.1062C>T (p.Pro354=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 772099	NM_000481.4(AMT):c.1062C>A (p.Pro354=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3117026	NM_000481.4(AMT):c.1060C>T (p.Pro354Ser)	AMT (P310S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1994464	NM_000481.4(AMT):c.1059C>T (p.Ser353=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1008464	NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr)	AMT (S297Y +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 954185	NM_000481.4(AMT):c.1056del (p.Ser353fs)	AMT (S309fs +2 more)	Deletion (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 1126717	NM_000481.4(AMT):c.1053C>T (p.Cys351=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2767434	NM_000481.4(AMT):c.1040dup (p.Thr348fs)	AMT (T348fs +2 more)	Duplication (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2859684	NM_000481.4(AMT):c.1040T>C (p.Val347Ala)	AMT (V303A +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1974935	NM_000481.4(AMT):c.1039G>C (p.Val347Leu)	AMT (V291L +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1096372	NM_000481.4(AMT):c.1038T>C (p.Thr346=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 552170	NM_000481.4(AMT):c.1034-1dup	AMT	Duplication (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 647035	NM_000481.4(AMT):c.1034-1G>C	AMT	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 2088057	NM_000481.4(AMT):c.1034-6T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2417642	NM_000481.4(AMT):c.1034-8C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2773070	NM_000481.4(AMT):c.1034-11T>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1570318	NM_000481.4(AMT):c.1034-14T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2732866	NM_000481.4(AMT):c.1034-16T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1620670	NM_000481.4(AMT):c.1034-30_1034-18dup	AMT	Duplication (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3004175	NM_000481.4(AMT):c.1034-19G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2176100	NM_000481.4(AMT):c.1033+18G>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2084504	NM_000481.4(AMT):c.1033+18G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2765202	NM_000481.4(AMT):c.1033+17A>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2792106	NM_000481.4(AMT):c.1033+13G>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1935648	NM_000481.4(AMT):c.1033+10C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2439033	NM_000481.4(AMT):c.1033+5G>A	AMT	Single nucleotide variant (intron variant)	Glycine encephalopathy 2	GUncertain significance
Select item 554551	NM_000481.4(AMT):c.1033+2dup	AMT	Duplication (splice donor variant)	Non-ketotic hyperglycinemia	GUncertain significance

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