"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518270	NM_020774.4(MIB1):c.138G>A (p.Glu46=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1208681	NM_020774.4(MIB1):c.180C>T (p.Tyr60=)	MIB1, LOC130062255	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1284271	NM_020774.4(MIB1):c.230-13C>T	MIB1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 222697	NM_020774.4(MIB1):c.376C>T (p.Arg126Ter)	MIB1 (R126*)	Single nucleotide variant (nonsense)	not specified	GLikely benign
Select item 392518	NM_020774.4(MIB1):c.636+7A>C	MIB1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 390978	NM_020774.4(MIB1):c.736T>C (p.Leu246=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 506382	NM_020774.4(MIB1):c.843A>T (p.Thr281=)	MIB1	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 7 +3 more	GBenign/Likely benign
Select item 518271	NM_020774.4(MIB1):c.1092+3A>G	MIB1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1174651	NM_020774.4(MIB1):c.1322A>C (p.Asn441Thr)	MIB1 (N441T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284540	NM_020774.4(MIB1):c.1372-12T>A	MIB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 522210	NM_020774.4(MIB1):c.1470C>T (p.Val490=)	MIB1	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 7 +2 more	GLikely benign
Select item 40092	NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)	MIB1 (R530*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 518273	NM_020774.4(MIB1):c.1830-18T>C	MIB1	Single nucleotide variant (intron variant)	Left ventricular noncompaction 7	GBenign
Select item 1201865	NM_020774.4(MIB1):c.2307A>G (p.Arg769=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1299842	NM_020774.4(MIB1):c.2586+17A>G	MIB1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign