ClinVar for Gene (Select 3419) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285251	NM_005530.3(IDH3A):c.903G>A (p.Met301Ile)	IDH3A (M301I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285250	NM_005530.3(IDH3A):c.521G>A (p.Gly174Glu)	IDH3A (G174E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3243879	NC_000015.9:g.(?_78397653)_(78461347_?)dup	CIB2, IDH3A	Duplication	not provided	GUncertain significance
Select item 3108022	NM_005530.3(IDH3A):c.130C>T (p.Pro44Ser)	IDH3A (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043629	NM_005530.3(IDH3A):c.865-6G>A	IDH3A	Single nucleotide variant (intron variant)	IDH3A-related disorder	GLikely benign
Select item 3003216	NM_005530.3(IDH3A):c.27+20C>G	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971999	NM_005530.3(IDH3A):c.11C>T (p.Pro4Leu)	IDH3A, LOC130057684 (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960776	NM_005530.3(IDH3A):c.324A>G (p.Pro108=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878708	NM_005530.3(IDH3A):c.81dup (p.Thr28fs)	IDH3A (T28fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2871102	NM_005530.3(IDH3A):c.175-5T>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862290	NM_005530.3(IDH3A):c.27+16C>A	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840566	NM_005530.3(IDH3A):c.27+11G>T	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836505	NM_005530.3(IDH3A):c.90+1G>A	IDH3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2832882	NM_005530.3(IDH3A):c.91-11C>T	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831322	NM_005530.3(IDH3A):c.222T>C (p.Pro74=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821922	NM_005530.3(IDH3A):c.174+17A>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801794	NM_005530.3(IDH3A):c.715-11A>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801793	NM_005530.3(IDH3A):c.478-7C>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798728	NM_005530.3(IDH3A):c.1080C>T (p.Arg360=)	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2793955	NM_005530.3(IDH3A):c.195G>A (p.Glu65=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787034	NM_005530.3(IDH3A):c.143_144delinsGG (p.Ala48Gly)	IDH3A (A48G)	Indel (missense variant)	not provided	GUncertain significance
Select item 2786318	NM_005530.3(IDH3A):c.735A>G (p.Gln245=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770722	NM_005530.3(IDH3A):c.648G>A (p.Arg216=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766557	NM_005530.3(IDH3A):c.27+13A>G	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754447	NM_005530.3(IDH3A):c.779+10G>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754204	NM_005530.3(IDH3A):c.165T>C (p.Asp55=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753495	NM_005530.3(IDH3A):c.715-5T>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748320	NM_005530.3(IDH3A):c.576G>A (p.Arg192=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615567	NM_005530.3(IDH3A):c.502A>G (p.Ile168Val)	IDH3A (I168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2485127	NM_005530.3(IDH3A):c.697G>C (p.Asp233His)	IDH3A (D233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325828	NM_005530.3(IDH3A):c.860A>T (p.Glu287Val)	IDH3A (E287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2164583	NM_005530.3(IDH3A):c.1044T>C (p.Asn348=)	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2127260	NM_005530.3(IDH3A):c.865-16T>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126916	NM_005530.3(IDH3A):c.864G>T (p.Ser288=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2125018	NM_005530.3(IDH3A):c.914C>T (p.Thr305Ile)	IDH3A (T305I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121848	NM_005530.3(IDH3A):c.339G>C (p.Leu113=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119257	NM_005530.3(IDH3A):c.715-4G>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2119024	NM_005530.3(IDH3A):c.621A>G (p.Ser207=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2113067	NM_005530.3(IDH3A):c.289+23_289+24dup	IDH3A	Duplication (intron variant)	not provided	GUncertain significance
Select item 2109066	NM_005530.3(IDH3A):c.864+9C>A	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107945	NM_005530.3(IDH3A):c.612-12G>T	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100456	NM_005530.3(IDH3A):c.181A>C (p.Ile61Leu)	IDH3A (I61L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098981	NM_005530.3(IDH3A):c.629T>C (p.Leu210Pro)	IDH3A (L210P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096775	NM_005530.3(IDH3A):c.715-19A>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094801	NM_005530.3(IDH3A):c.594G>T (p.Val198=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090407	NM_005530.3(IDH3A):c.175-20C>T	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072757	NM_005530.3(IDH3A):c.865-18A>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2065182	NM_005530.3(IDH3A):c.592del (p.Val198fs)	IDH3A (V198fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2060656	NM_005530.3(IDH3A):c.10C>T (p.Pro4Ser)	IDH3A, LOC130057684 (P4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060387	NM_005530.3(IDH3A):c.1046C>T (p.Ala349Val)	ACSBG1, IDH3A (A349V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2038413	NM_005530.3(IDH3A):c.843T>A (p.Asn281Lys)	IDH3A (N281K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026541	NM_005530.3(IDH3A):c.373C>T (p.Arg125Ter)	IDH3A (R125*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2023216	NM_005530.3(IDH3A):c.612-6A>T	IDH3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2023029	NM_005530.3(IDH3A):c.1018-5C>T	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2022942	NM_005530.3(IDH3A):c.27+19G>T	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020091	NM_005530.3(IDH3A):c.273C>T (p.Asn91=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2020004	NM_005530.3(IDH3A):c.1017+5C>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2019938	NM_005530.3(IDH3A):c.478-18G>A	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019873	NM_005530.3(IDH3A):c.438A>C (p.Arg146=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012441	NM_005530.3(IDH3A):c.611+2T>G	IDH3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2012293	NM_005530.3(IDH3A):c.425T>C (p.Ile142Thr)	IDH3A (I142T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010525	NM_005530.3(IDH3A):c.780-20A>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2009874	NM_005530.3(IDH3A):c.828C>A (p.Gly276=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007282	NM_005530.3(IDH3A):c.612-12G>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006603	NM_005530.3(IDH3A):c.175-8G>A	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006585	NM_005530.3(IDH3A):c.151A>G (p.Met51Val)	IDH3A (M51V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999821	NM_005530.3(IDH3A):c.174+9G>A	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1997005	NM_005530.3(IDH3A):c.715-15A>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1995497	NM_005530.3(IDH3A):c.876G>C (p.Thr292=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975343	NM_005530.3(IDH3A):c.478-3C>T	IDH3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1961284	NM_005530.3(IDH3A):c.174+10C>T	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957853	NM_005530.3(IDH3A):c.279G>A (p.Met93Ile)	IDH3A (M93I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1954224	NM_005530.3(IDH3A):c.558T>C (p.Tyr186=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949654	NM_005530.3(IDH3A):c.211A>G (p.Ile71Val)	IDH3A (I71V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937427	NM_005530.3(IDH3A):c.614G>A (p.Arg205Gln)	IDH3A (R205Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930064	NM_005530.3(IDH3A):c.516C>T (p.Thr172=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925816	NM_005530.3(IDH3A):c.20T>C (p.Ile7Thr)	IDH3A, LOC130057684 (I7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923875	NM_005530.3(IDH3A):c.714+17A>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907718	NM_005530.3(IDH3A):c.307A>G (p.Ile103Val)	IDH3A (I103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1803191	NM_005530.3(IDH3A):c.805G>A (p.Gly269Ser)	IDH3A (G269S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 90	GUncertain significance
Select item 1715161	NM_005530.3(IDH3A):c.316G>A (p.Gly106Ser)	IDH3A (G106S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714783	NM_005530.3(IDH3A):c.517G>A (p.Glu173Lys)	IDH3A (E173K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674498	NM_005530.3(IDH3A):c.612-4A>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671060	NM_005530.3(IDH3A):c.924G>T (p.Leu308=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670720	NM_005530.3(IDH3A):c.90+11T>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670424	NM_005530.3(IDH3A):c.715-13G>A	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1669131	NM_005530.3(IDH3A):c.90+14T>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665897	NM_005530.3(IDH3A):c.865-15T>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663662	NM_005530.3(IDH3A):c.786G>A (p.Leu262=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658936	NM_005530.3(IDH3A):c.289+20G>A	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657568	NM_005530.3(IDH3A):c.289+19C>T	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656318	NM_005530.3(IDH3A):c.882A>G (p.Pro294=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655778	NM_005530.3(IDH3A):c.339G>A (p.Leu113=)	IDH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651503	NM_005530.3(IDH3A):c.289+16A>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648366	NM_005530.3(IDH3A):c.477+18T>G	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648291	NM_005530.3(IDH3A):c.27+14G>T	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644812	NM_005530.3(IDH3A):c.91-18A>C	IDH3A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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