IDH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 147983	GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1	C2orf80, CRYGA +17 more	Copy number loss	See cases	GUncertain significance
Select item 58819	GRCh38/hg38 2q33.3-34(chr2:208179265-209331482)x1	C2orf80, IDH1 +11 more	Copy number loss	See cases	GPathogenic
Select item 1756886	NM_005896.4(IDH1):c.1236C>G (p.Ala412=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1756246	NM_005896.4(IDH1):c.1233G>A (p.Gln411=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225130	NM_005896.4(IDH1):c.1223A>C (p.Lys408Thr)	IDH1 (K408T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1753585	NM_005896.4(IDH1):c.1223A>G (p.Lys408Arg)	IDH1 (K408R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1753014	NM_005896.4(IDH1):c.1220T>A (p.Ile407Asn)	IDH1 (I407N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1752240	NM_005896.4(IDH1):c.1218G>A (p.Lys406=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2587374	NM_005896.4(IDH1):c.1207G>A (p.Glu403Lys)	IDH1 (E403K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1748787	NM_005896.4(IDH1):c.1206A>G (p.Gly402=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1748672	NM_005896.4(IDH1):c.1205G>A (p.Gly402Glu)	IDH1 (G402E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108018	NM_005896.4(IDH1):c.1196A>G (p.Asp399Gly)	IDH1 (D399G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745223	NM_005896.4(IDH1):c.1192A>T (p.Met398Leu)	IDH1 (M398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745208	NM_005896.4(IDH1):c.1192A>G (p.Met398Val)	IDH1 (M398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491833	NM_005896.4(IDH1):c.1181C>T (p.Thr394Ile)	IDH1 (T394I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225127	NM_005896.4(IDH1):c.1179T>A (p.Asn393Lys)	IDH1 (N393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225126	NM_005896.4(IDH1):c.1178A>G (p.Asn393Ser)	IDH1 (N393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1740883	NM_005896.4(IDH1):c.1176G>T (p.Leu392Phe)	IDH1 (L392F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1739806	NM_005896.4(IDH1):c.1171T>C (p.Tyr391His)	IDH1 (Y391H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225125	NM_005896.4(IDH1):c.1162C>A (p.Arg388Ser)	IDH1 (R388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491842	NM_005896.4(IDH1):c.1162C>T (p.Arg388Cys)	IDH1 (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567506	NM_005896.4(IDH1):c.1158G>A (p.Val386=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1735302	NM_005896.4(IDH1):c.1155T>C (p.Asn385=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 744029	NM_005896.4(IDH1):c.1155-5G>A	IDH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275091	NM_005896.4(IDH1):c.1155-225_1155-224insGA	IDH1	Insertion (intron variant)	not provided	GBenign
Select item 1228093	NM_005896.4(IDH1):c.1154+300C>T	IDH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1734587	NM_005896.4(IDH1):c.1153A>G (p.Asn385Asp)	IDH1 (N385D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587380	NM_005896.4(IDH1):c.1152C>A (p.Pro384=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1732197	NM_005896.4(IDH1):c.1144G>T (p.Gly382Cys)	IDH1 (G382C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225124	NM_005896.4(IDH1):c.1139T>G (p.Ile380Ser)	IDH1 (I380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567505	NM_005896.4(IDH1):c.1138A>G (p.Ile380Val)	IDH1 (I380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1730057	NM_005896.4(IDH1):c.1137C>T (p.Cys379=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225123	NM_005896.4(IDH1):c.1136G>T (p.Cys379Phe)	IDH1 (C379F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729009	NM_005896.4(IDH1):c.1133C>G (p.Ala378Gly)	IDH1 (A378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728632	NM_005896.4(IDH1):c.1131T>C (p.Ala377=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225122	NM_005896.4(IDH1):c.1122G>A (p.Lys374=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225121	NM_005896.4(IDH1):c.1121A>G (p.Lys374Arg)	IDH1 (K374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1797621	NM_005896.4(IDH1):c.1120A>G (p.Lys374Glu)	IDH1 (K374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1795325	NM_005896.4(IDH1):c.1111T>A (p.Phe371Ile)	IDH1 (F371I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225120	NM_005896.4(IDH1):c.1106C>G (p.Ala369Gly)	IDH1 (A369G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1791426	NM_005896.4(IDH1):c.1099A>C (p.Ile367Leu)	IDH1 (I367L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225119	NM_005896.4(IDH1):c.1096A>G (p.Thr366Ala)	IDH1 (T366A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1789540	NM_005896.4(IDH1):c.1091T>C (p.Ile364Thr)	IDH1 (I364T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1789164	NM_005896.4(IDH1):c.1090A>T (p.Ile364Phe)	IDH1 (I364F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788604	NM_005896.4(IDH1):c.1089T>A (p.Ser363=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1788215	NM_005896.4(IDH1):c.1088C>T (p.Ser363Phe)	IDH1 (S363F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1788047	NM_005896.4(IDH1):c.1087T>G (p.Ser363Ala)	IDH1 (S363A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1787700	NM_005896.4(IDH1):c.1086C>T (p.Val362=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1787526	NM_005896.4(IDH1):c.1085T>C (p.Val362Ala)	IDH1 (V362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624909	NM_005896.4(IDH1):c.1084G>T (p.Val362Phe)	IDH1 (V362F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225118	NM_005896.4(IDH1):c.1080A>C (p.Glu360Asp)	IDH1 (E360D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1784773	NM_005896.4(IDH1):c.1075T>C (p.Leu359=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1783715	NM_005896.4(IDH1):c.1071T>C (p.Asn357=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2562462	NM_005896.4(IDH1):c.1067C>T (p.Ala356Val)	IDH1 (A356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453234	NM_005896.4(IDH1):c.1060T>G (p.Phe354Val)	IDH1 (F354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1779444	NM_005896.4(IDH1):c.1059C>G (p.Ala353=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1779163	NM_005896.4(IDH1):c.1058C>G (p.Ala353Gly)	IDH1 (A353G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1779148	NM_005896.4(IDH1):c.1058C>A (p.Ala353Asp)	IDH1 (A353D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1779015	NM_005896.4(IDH1):c.1057G>T (p.Ala353Ser)	IDH1 (A353S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1776881	NM_005896.4(IDH1):c.1050A>G (p.Lys350=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2453222	NM_005896.4(IDH1):c.1047T>A (p.Asn349Lys)	IDH1 (N349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1775878	NM_005896.4(IDH1):c.1047T>C (p.Asn349=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225117	NM_005896.4(IDH1):c.1045A>G (p.Asn349Asp)	IDH1 (N349D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1775190	NM_005896.4(IDH1):c.1045A>C (p.Asn349His)	IDH1 (N349H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1775010	NM_005896.4(IDH1):c.1044C>T (p.Asn348=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1774942	NM_005896.4(IDH1):c.1044C>G (p.Asn348Lys)	IDH1 (N348K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1774675	NM_005896.4(IDH1):c.1043A>G (p.Asn348Ser)	IDH1 (N348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1772432	NM_005896.4(IDH1):c.1035G>A (p.Lys345=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2587382	NM_005896.4(IDH1):c.1030G>A (p.Ala344Thr)	IDH1 (A344T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491959	NM_005896.4(IDH1):c.1026C>G (p.His342Gln)	IDH1 (H342Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1769260	NM_005896.4(IDH1):c.1025A>G (p.His342Arg)	IDH1 (H342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587375	NM_005896.4(IDH1):c.1024C>T (p.His342Tyr)	IDH1 (H342Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1766300	NM_005896.4(IDH1):c.1023C>T (p.Ala341=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1763454	NM_005896.4(IDH1):c.1022C>A (p.Ala341Asp)	IDH1 (A341D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1748305	NM_005896.4(IDH1):c.1017G>A (p.Gly339=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1743060	NM_005896.4(IDH1):c.1015G>A (p.Gly339Arg)	IDH1 (G339R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1781808	NM_005896.4(IDH1):c.1005C>T (p.Ala335=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2561272	NM_005896.4(IDH1):c.1002T>C (p.Phe334=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1768827	NM_005896.4(IDH1):c.998T>G (p.Ile333Ser)	IDH1 (I333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567499	NM_005896.4(IDH1):c.997A>C (p.Ile333Leu)	IDH1 (I333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232855	NM_005896.4(IDH1):c.992-273T>C	IDH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1768528	NM_005896.4(IDH1):c.989T>C (p.Ile330Thr)	IDH1 (I330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225155	NM_005896.4(IDH1):c.985C>A (p.Pro329Thr)	IDH1 (P329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1768418	NM_005896.4(IDH1):c.985C>T (p.Pro329Ser)	IDH1 (P329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453235	NM_005896.4(IDH1):c.982A>T (p.Asn328Tyr)	IDH1 (N328Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572078	NM_005896.4(IDH1):c.976T>C (p.Ser326Pro)	IDH1 (S326P)	Single nucleotide variant (missense variant)	Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	GUncertain significance
Select item 740179	NM_005896.4(IDH1):c.975G>A (p.Thr325=)	IDH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1768038	NM_005896.4(IDH1):c.973A>G (p.Thr325Ala)	IDH1 (T325A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1767855	NM_005896.4(IDH1):c.969G>C (p.Gln323His)	IDH1 (Q323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1767850	NM_005896.4(IDH1):c.969G>A (p.Gln323=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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