Related gene-specific medical variations for Gene (Select 8927) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236611	NM_003458.4(BSN):c.1027C>T (p.Gln343Ter)	BSN (Q343*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3236560	NM_003458.4(BSN):c.4138del (p.Thr1380fs)	BSN (T1380fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3135230	NM_003458.4(BSN):c.122C>G (p.Ala41Gly)	BSN, LOC129936761 (A41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032746	NM_003458.4(BSN):c.79CCCGGC[4] (p.Gly32_Ala33insProGly)	BSN, LOC129936761	Microsatellite (inframe insertion)	BSN-related disorder	GLikely benign
Select item 2653830	NM_003458.4(BSN):c.192C>T (p.Gly64=)	BSN, LOC129936761	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653829	NM_003458.4(BSN):c.54C>G (p.Pro18=)	BSN, LOC129936761	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582612	NM_003458.4(BSN):c.328C>T (p.Arg110Ter)	BSN (R110*)	Single nucleotide variant (nonsense)	BSN related epilepsy	GUncertain significance
Select item 2398525	NM_003458.4(BSN):c.91C>G (p.Pro31Ala)	BSN, LOC129936761 (P31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar