ClinVar for MedGen (Select 767410) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067834	NM_020774.4(MIB1):c.531+1G>A	MIB1	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 3064992	NM_020774.4(MIB1):c.178del (p.Tyr60fs)	LOC130062255, MIB1 (Y60fs)	Deletion (frameshift variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 3027436	NM_020774.4(MIB1):c.2250_2259del (p.Lys750fs)	MIB1 (K750fs)	Deletion (frameshift variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 2692328	NM_020774.4(MIB1):c.908+5G>A	MIB1	Single nucleotide variant (intron variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 2689427	NM_020774.4(MIB1):c.335G>T (p.Cys112Phe)	MIB1 (C112F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 2442189	NM_020774.4(MIB1):c.2810A>G (p.Asp937Gly)	MIB1 (D937G)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 2433746	NM_020774.4(MIB1):c.2285A>G (p.Asn762Ser)	MIB1 (N762S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 1699081	NM_020774.4(MIB1):c.442G>A (p.Ala148Thr)	MIB1 (A148T)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 1334019	NM_020774.4(MIB1):c.2039del (p.Gln680fs)	MIB1 (Q680fs)	Deletion (frameshift variant)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 1032855	NM_020774.4(MIB1):c.2779+1G>C	MIB1	Single nucleotide variant (splice donor variant)	Left ventricular noncompaction 7	GUncertain significance
Select item 1028190	NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter)	MIB1 (Q960*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 7	GLikely pathogenic
Select item 545974	NM_020774.4(MIB1):c.2716C>T (p.Arg906Ter)	MIB1 (R906*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction 7 +2 more	GUncertain significance
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 522210	NM_020774.4(MIB1):c.1470C>T (p.Val490=)	MIB1	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 7 +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 518272	NM_020774.4(MIB1):c.1207G>T (p.Ala403Ser)	MIB1 (A403S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7	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 518270	NM_020774.4(MIB1):c.138G>A (p.Glu46=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 514144	NM_020774.4(MIB1):c.228C>G (p.Thr76=)	MIB1	Single nucleotide variant (synonymous variant)	not provided +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 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 489065	NM_020774.4(MIB1):c.2635C>T (p.Gln879Ter)	MIB1 (Q879*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 451819	NM_020774.4(MIB1):c.2746G>A (p.Gly916Arg)	MIB1 (G916R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450378	NM_020774.4(MIB1):c.3007A>G (p.Ile1003Val)	MIB1 (I1003V)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 7 +2 more	GConflicting classifications of pathogenicity
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 384817	NM_020774.4(MIB1):c.1479+18A>G	MIB1	Single nucleotide variant (intron variant)	Left ventricular noncompaction 7 +1 more	GBenign
Select item 384702	NM_020774.4(MIB1):c.2393+10A>G	MIB1	Single nucleotide variant (intron variant)	Left ventricular noncompaction 7 +1 more	GBenign
Select item 384701	NM_020774.4(MIB1):c.1962+17A>G	MIB1	Single nucleotide variant (intron variant)	Left ventricular noncompaction 7 +1 more	GBenign
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 40091	NM_020774.4(MIB1):c.2827G>T (p.Val943Phe)	MIB1 (V943F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Links from MedGen

Items: 30