"Ambry Genetics"[submitter] AND "LOC129933155"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177716	NM_015909.4(NBAS):c.103G>C (p.Glu35Gln)	LOC129933155, NBAS (E35Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323935	NM_015909.4(NBAS):c.49G>T (p.Gly17Cys)	LOC129933155, NBAS (G17C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542886	NM_015909.4(NBAS):c.31A>C (p.Ser11Arg)	LOC129933155, NBAS (S11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1374765	NM_015909.4(NBAS):c.19G>C (p.Gly7Arg)	LOC129933155, NBAS (G7R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 999257	NM_015909.4(NBAS):c.8C>A (p.Ala3Asp)	LOC129933155, NBAS (A3D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1447581	NM_015909.4(NBAS):c.4G>C (p.Ala2Pro)	LOC129933155, NBAS (A2P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

ClinVar