Related gene-specific medical variations for Gene (Select 3419) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3481998	NM_015162.5(ACSBG1):c.2144T>C (p.Ile715Thr)	ACSBG1, IDH3A (I715T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 2766557	NM_005530.3(IDH3A):c.27+13A>G	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 1925816	NM_005530.3(IDH3A):c.20T>C (p.Ile7Thr)	IDH3A, LOC130057684 (I7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648291	NM_005530.3(IDH3A):c.27+14G>T	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642974	NM_005530.3(IDH3A):c.21C>T (p.Ile7=)	IDH3A, LOC130057684	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598501	NM_005530.3(IDH3A):c.27+19_27+41dup	LOC130057684, IDH3A	Duplication (intron variant)	not provided	GLikely benign
Select item 1542249	NM_005530.3(IDH3A):c.27+9_27+31dup	IDH3A, LOC130057684	Duplication (intron variant)	not provided	GLikely benign
Select item 1524409	NM_005530.3(IDH3A):c.27+5G>A	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1489360	NM_005530.3(IDH3A):c.1048A>G (p.Lys350Glu)	ACSBG1, IDH3A (K350E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1484624	NM_005530.3(IDH3A):c.1082G>A (p.Arg361Gln)	ACSBG1, IDH3A (R361Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1467972	NM_005530.3(IDH3A):c.27+2T>C	IDH3A, LOC130057684	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1446597	NM_005530.3(IDH3A):c.17G>A (p.Trp6Ter)	IDH3A, LOC130057684 (W6*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1369530	NM_005530.3(IDH3A):c.8G>T (p.Gly3Val)	IDH3A, LOC130057684 (G3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366668	NM_005530.3(IDH3A):c.1081C>T (p.Arg361Ter)	ACSBG1, IDH3A (R361*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1357895	NM_005530.3(IDH3A):c.27+8_27+9delinsGG	IDH3A, LOC130057684	Indel (intron variant)	not provided	GLikely benign
Select item 1346201	NM_005530.3(IDH3A):c.26A>G (p.Lys9Arg)	IDH3A, LOC130057684 (K9R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1230438	NM_005530.3(IDH3A):c.*110A>G	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1227348	NM_005530.3(IDH3A):c.27+114T>G	IDH3A, LOC130057684	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169182	NM_005530.3(IDH3A):c.24T>C (p.Ser8=)	IDH3A, LOC130057684	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1167067	NM_005530.3(IDH3A):c.1032T>C (p.Asp344=)	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1166670	NM_005530.3(IDH3A):c.1026A>G (p.Thr342=)	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1150594	NM_005530.3(IDH3A):c.1047A>G (p.Ala349=)	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1146800	NM_005530.3(IDH3A):c.1078C>T (p.Arg360Cys)	ACSBG1, IDH3A (R360C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1100476	NM_005530.3(IDH3A):c.12C>G (p.Pro4=)	IDH3A, LOC130057684	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1041031	NM_005530.3(IDH3A):c.1079G>A (p.Arg360His)	ACSBG1, IDH3A (R360H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1018005	NM_005530.3(IDH3A):c.2T>C (p.Met1Thr)	IDH3A, LOC130057684 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 966798	NM_005530.3(IDH3A):c.13G>T (p.Ala5Ser)	IDH3A, LOC130057684 (A5S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 37