ClinVar for Gene (Select 3417) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285248	NM_005896.4(IDH1):c.355C>A (p.Arg119=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3285247	NM_005896.4(IDH1):c.1188G>T (p.Glu396Asp)	IDH1 (E396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285246	NM_005896.4(IDH1):c.1141A>G (p.Lys381Glu)	IDH1 (K381E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285245	NM_005896.4(IDH1):c.916G>C (p.Glu306Gln)	IDH1 (E306Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285244	NM_005896.4(IDH1):c.712C>A (p.Gln238Lys)	IDH1 (Q238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285243	NM_005896.4(IDH1):c.1188G>A (p.Glu396=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3285242	NM_005896.4(IDH1):c.1184T>C (p.Phe395Ser)	IDH1 (F395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285241	NM_005896.4(IDH1):c.311G>A (p.Gly104Asp)	IDH1 (G104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285240	NM_005896.4(IDH1):c.231T>A (p.Thr77=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3285239	NM_005896.4(IDH1):c.58C>A (p.Arg20=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3285238	NM_005896.4(IDH1):c.553C>A (p.Gln185Lys)	IDH1 (Q185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285236	NM_005896.4(IDH1):c.126T>C (p.Tyr42=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3285235	NM_005896.4(IDH1):c.1151C>G (p.Pro384Arg)	IDH1 (P384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285234	NM_005896.4(IDH1):c.153C>T (p.Ala51=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3285233	NM_005896.4(IDH1):c.506T>C (p.Val169Ala)	IDH1 (V169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285232	NM_005896.4(IDH1):c.416A>G (p.Tyr139Cys)	IDH1 (Y139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285231	NM_005896.4(IDH1):c.1157T>C (p.Val386Ala)	IDH1 (V386A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285230	NM_005896.4(IDH1):c.112G>C (p.Asp38His)	IDH1 (D38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285229	NM_005896.4(IDH1):c.403T>C (p.Tyr135His)	IDH1 (Y135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285228	NM_005896.4(IDH1):c.522A>C (p.Glu174Asp)	IDH1 (E174D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285227	NM_005896.4(IDH1):c.913G>A (p.Ala305Thr)	IDH1 (A305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258030	NM_005896.4(IDH1):c.682C>T (p.Gln228Ter)	IDH1 (Q228*)	Single nucleotide variant (nonsense)	Neoplasm	OUncertain significance
Select item 3238635	NM_005896.4(IDH1):c.943C>T (p.His315Tyr)	IDH1 (H315Y)	Single nucleotide variant (missense variant)	Maffucci syndrome	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 3225154	NM_005896.4(IDH1):c.949C>A (p.Arg317Ser)	IDH1 (R317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225153	NM_005896.4(IDH1):c.926A>C (p.His309Pro)	IDH1 (H309P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225152	NM_005896.4(IDH1):c.911A>G (p.Glu304Gly)	IDH1 (E304G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225151	NM_005896.4(IDH1):c.862C>T (p.Leu288Phe)	IDH1 (L288F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225150	NM_005896.4(IDH1):c.790G>T (p.Gly264Cys)	IDH1 (G264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225149	NM_005896.4(IDH1):c.760A>G (p.Met254Val)	IDH1 (M254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225148	NM_005896.4(IDH1):c.716T>C (p.Phe239Ser)	IDH1 (F239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225146	NM_005896.4(IDH1):c.606T>A (p.Ser202=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225145	NM_005896.4(IDH1):c.541G>A (p.Gly181Arg)	IDH1 (G181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225144	NM_005896.4(IDH1):c.539T>G (p.Met180Arg)	IDH1 (M180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225143	NM_005896.4(IDH1):c.470C>A (p.Thr157Lys)	IDH1 (T157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225142	NM_005896.4(IDH1):c.398A>C (p.His133Pro)	IDH1 (H133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225141	NM_005896.4(IDH1):c.354C>T (p.Pro118=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225140	NM_005896.4(IDH1):c.351C>T (p.Ile117=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225139	NM_005896.4(IDH1):c.331G>A (p.Ala111Thr)	IDH1 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225138	NM_005896.4(IDH1):c.312T>C (p.Gly104=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225137	NM_005896.4(IDH1):c.286A>G (p.Asn96Asp)	IDH1 (N96D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225136	NM_005896.4(IDH1):c.228C>G (p.Ile76Met)	IDH1 (I76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225135	NM_005896.4(IDH1):c.223A>G (p.Thr75Ala)	IDH1 (T75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225134	NM_005896.4(IDH1):c.217T>G (p.Cys73Gly)	IDH1 (C73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225133	NM_005896.4(IDH1):c.205G>T (p.Val69Phe)	IDH1 (V69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225132	NM_005896.4(IDH1):c.191T>G (p.Ile64Arg)	IDH1 (I64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225131	NM_005896.4(IDH1):c.149A>T (p.Asp50Val)	IDH1 (D50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3225128	NM_005896.4(IDH1):c.118C>G (p.His40Asp)	IDH1 (H40D)	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 3225125	NM_005896.4(IDH1):c.1162C>A (p.Arg388Ser)	IDH1 (R388S)	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 3225123	NM_005896.4(IDH1):c.1136G>T (p.Cys379Phe)	IDH1 (C379F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3225120	NM_005896.4(IDH1):c.1106C>G (p.Ala369Gly)	IDH1 (A369G)	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 3225118	NM_005896.4(IDH1):c.1080A>C (p.Glu360Asp)	IDH1 (E360D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3108018	NM_005896.4(IDH1):c.1196A>G (p.Asp399Gly)	IDH1 (D399G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062601	GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2624911	NM_005896.4(IDH1):c.535G>A (p.Ala179Thr)	IDH1 (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624910	NM_005896.4(IDH1):c.194A>G (p.Lys65Arg)	IDH1 (K65R)	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 2624908	NM_005896.4(IDH1):c.711C>T (p.Ser237=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2616484	NM_005896.4(IDH1):c.556G>T (p.Asp186Tyr)	IDH1 (D186Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610379	NM_005896.4(IDH1):c.804C>T (p.Ala268=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2610350	NM_005896.4(IDH1):c.216A>G (p.Lys72=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2610290	NM_005896.4(IDH1):c.831G>T (p.Gln277His)	IDH1 (Q277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610279	NM_005896.4(IDH1):c.482G>A (p.Gly161Glu)	IDH1 (G161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587383	NM_005896.4(IDH1):c.458A>G (p.Glu153Gly)	IDH1 (E153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2587381	NM_005896.4(IDH1):c.87A>T (p.Lys29Asn)	IDH1 (K29N)	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 2587379	NM_005896.4(IDH1):c.264G>A (p.Leu88=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2587378	NM_005896.4(IDH1):c.879C>G (p.Ser293Arg)	IDH1 (S293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587377	NM_005896.4(IDH1):c.336T>C (p.Ile112=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2587376	NM_005896.4(IDH1):c.556G>C (p.Asp186His)	IDH1 (D186H)	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 2587374	NM_005896.4(IDH1):c.1207G>A (p.Glu403Lys)	IDH1 (E403K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2573111	NM_005896.4(IDH1):c.676A>G (p.Ile226Val)	IDH1 (I226V)	Single nucleotide variant (missense variant)	Diffuse midline glioma, H3 K27-altered	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 2567510	NM_005896.4(IDH1):c.262T>A (p.Leu88Met)	IDH1 (L88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567509	NM_005896.4(IDH1):c.951C>T (p.Arg317=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2567508	NM_005896.4(IDH1):c.252G>A (p.Glu84=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2567507	NM_005896.4(IDH1):c.798C>G (p.Ile266Met)	IDH1 (I266M)	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 2567505	NM_005896.4(IDH1):c.1138A>G (p.Ile380Val)	IDH1 (I380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567504	NM_005896.4(IDH1):c.616C>G (p.Pro206Ala)	IDH1 (P206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567503	NM_005896.4(IDH1):c.246G>A (p.Arg82=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2567502	NM_005896.4(IDH1):c.492G>A (p.Lys164=)	IDH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2567501	NM_005896.4(IDH1):c.851G>C (p.Gly284Ala)	IDH1 (G284A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567500	NM_005896.4(IDH1):c.661G>C (p.Gly221Arg)	IDH1 (G221R)	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 2567498	NM_005896.4(IDH1):c.154A>G (p.Thr52Ala)	IDH1 (T52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567497	NM_005896.4(IDH1):c.485C>G (p.Thr162Ser)	IDH1 (T162S)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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