"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

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

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1200890	NM_020774.4(MIB1):c.4A>G (p.Ser2Gly)	LOC130062254, MIB1 (S2G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1175114	NM_020774.4(MIB1):c.198C>A (p.Tyr66Ter)	MIB1, LOC130062255 (Y66*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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)	not specified +3 more	GBenign/Likely benign
Select item 1297518	NM_020774.4(MIB1):c.992C>A (p.Ser331Ter)	MIB1 (S331*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1299954	NM_020774.4(MIB1):c.1238-11A>T	MIB1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1206369	NM_020774.4(MIB1):c.1307T>G (p.Val436Gly)	MIB1 (V436G)	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)	MIB1-related condition +3 more	GLikely benign
Select item 518273	NM_020774.4(MIB1):c.1830-18T>C	MIB1	Single nucleotide variant (intron variant)	Left ventricular noncompaction 7	GBenign
Select item 522298	NM_020774.4(MIB1):c.1963-6G>A	MIB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1175038	NM_020774.4(MIB1):c.2026C>T (p.Arg676Ter)	MIB1 (R676*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 507622	NM_020774.4(MIB1):c.2337C>T (p.Leu779=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 386376	NM_020774.4(MIB1):c.2445C>G (p.Thr815=)	MIB1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 705296	NM_020774.4(MIB1):c.2676C>T (p.Asn892=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 511324	NM_020774.4(MIB1):c.2779+8G>A	MIB1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20