"GeneDx"[submitter] AND "IDH3B"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58964	GRCh38/hg38 20p13(chr20:2595077-3004837)x3	C20orf141, CPXM1 +30 more	Copy number gain	See cases	GUncertain significance
Select item 338008	NM_006899.5(IDH3B):c.*235A>G	IDH3B, LOC129391150 (N386S +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 1239037	NM_006899.5(IDH3B):c.1072-87C>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259601	NM_006899.5(IDH3B):c.1072-172_1072-170del	IDH3B	Microsatellite (intron variant)	not provided	GBenign
Select item 1289133	NM_006899.5(IDH3B):c.1072-219C>T	IDH3B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1276694	NM_006899.5(IDH3B):c.1072-323C>T	IDH3B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1268139	NM_006899.5(IDH3B):c.1071+138T>A	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273219	NM_006899.5(IDH3B):c.1071+108G>T	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287281	NM_006899.5(IDH3B):c.1071+69C>T	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231862	NM_006899.5(IDH3B):c.916-49A>G	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777515	NM_006899.5(IDH3B):c.636G>A (p.Lys212=)	IDH3B	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +1 more	GBenign
Select item 338028	NM_006899.5(IDH3B):c.118-3G>C	IDH3B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1276882	NM_006899.5(IDH3B):c.37-34G>T	IDH3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271997	NC_000020.11:g.2664329C>T	IDH3B, IDH3B-DT	Single nucleotide variant	not provided	GBenign
Select item 1261167	NC_000020.11:g.2664350G>A	IDH3B, IDH3B-DT	Single nucleotide variant	not provided	GBenign
Select item 1271565	NC_000020.11:g.2664431G>A	IDH3B, IDH3B-DT	Single nucleotide variant	not provided	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic