"MIB1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 704721	NM_020774.4(MIB1):c.60C>T (p.Arg20=)	MIB1	Single nucleotide variant (synonymous variant)	MIB1-related disorder +2 more	GLikely benign
Select item 2633962	NM_020774.4(MIB1):c.402-1G>A	MIB1	Single nucleotide variant (splice acceptor variant)	MIB1-related disorder	GUncertain significance
Select item 3054366	NM_020774.4(MIB1):c.571dup (p.Ser191fs)	MIB1 (S191fs)	Duplication (frameshift variant)	MIB1-related disorder	GUncertain significance
Select item 2631074	NM_020774.4(MIB1):c.584T>G (p.Val195Gly)	MIB1 (V195G)	Single nucleotide variant (missense variant)	MIB1-related disorder	GUncertain significance
Select item 507267	NM_020774.4(MIB1):c.603T>G (p.Ala201=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2633002	NM_020774.4(MIB1):c.627dup (p.Glu210Ter)	MIB1 (E210*)	Duplication (nonsense +1 more)	MIB1-related disorder	GUncertain significance
Select item 506511	NM_020774.4(MIB1):c.756A>C (p.Val252=)	MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1202826	NM_020774.4(MIB1):c.1435A>G (p.Ile479Val)	MIB1 (I479V)	Single nucleotide variant (missense variant)	MIB1-related disorder +1 more	GLikely benign
Select item 522210	NM_020774.4(MIB1):c.1470C>T (p.Val490=)	MIB1	Single nucleotide variant (synonymous variant)	MIB1-related disorder +3 more	GLikely benign
Select item 3029378	NM_020774.4(MIB1):c.2161dup (p.Met721fs)	MIB1 (M721fs)	Duplication (frameshift variant)	MIB1-related disorder	GUncertain significance
Select item 432947	NM_020774.4(MIB1):c.2411G>A (p.Arg804Gln)	MIB1 (R804Q)	Single nucleotide variant (missense variant)	MIB1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3061227	NM_020774.4(MIB1):c.2586+1G>A	MIB1	Single nucleotide variant (splice donor variant)	MIB1-related disorder	GUncertain significance
Select item 3040734	NM_020774.4(MIB1):c.2586+9T>G	MIB1	Single nucleotide variant (intron variant)	MIB1-related disorder	GLikely benign
Select item 3042924	NM_020774.4(MIB1):c.2589T>G (p.Ile863Met)	MIB1 (I863M)	Single nucleotide variant (missense variant)	MIB1-related disorder	GUncertain significance
Select item 545974	NM_020774.4(MIB1):c.2716C>T (p.Arg906Ter)	MIB1 (R906*)	Single nucleotide variant (nonsense)	not provided +2 more	GUncertain significance
Select item 2633913	NM_020774.4(MIB1):c.2733_2735delinsA (p.Met912fs)	MIB1 (M912fs)	Indel (frameshift variant)	MIB1-related disorder	GUncertain significance
Select item 511324	NM_020774.4(MIB1):c.2779+8G>A	MIB1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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