"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NBEA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044330	NM_001385012.1(NBEA):c.1185A>C (p.Glu395Asp)	NBEA (E395D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3298560	NM_001385012.1(NBEA):c.3002G>A (p.Arg1001Gln)	NBEA (R1001Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3380148	NM_001385012.1(NBEA):c.4082A>G (p.His1361Arg)	NBEA (H1361R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3381096	NM_001385012.1(NBEA):c.4242+2T>A	NBEA	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2643752	NM_001385012.1(NBEA):c.5435C>A (p.Thr1812Asn)	NBEA (T1809N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 769846	NM_001385012.1(NBEA):c.7039A>G (p.Ile2347Val)	NBEA (I2347V +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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