Related gene-specific medical variations for Gene (Select 23299) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245258	NC_000009.11:g.(?_95477703)_(95479326_?)del	BICD2	Deletion	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GUncertain significance
Select item 3064531	NM_001003800.2(BICD2):c.535C>T (p.Gln179Ter)	BICD2 (Q179*)	Single nucleotide variant (nonsense)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	GLikely pathogenic
Select item 2441951	NM_001003800.2(BICD2):c.538G>A (p.Asp180Asn)	BICD2 (D180N)	Single nucleotide variant (missense variant)	Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	GLikely pathogenic
Select item 2439514	NM_001003800.2(BICD2):c.1249G>A (p.Asp417Asn)	BICD2 (D417N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429949	NM_001003800.2(BICD2):c.1849del (p.Pro616_Leu617insTer)	BICD2	Deletion (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 1342048	NM_001003800.2(BICD2):c.-66GGC[7]	BICD2, LOC130002076	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1326830	NM_001003800.2(BICD2):c.-66GGC[5]	BICD2, LOC130002076	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1323979	NM_001003800.2(BICD2):c.2081G>A (p.Arg694His)	BICD2 (R694H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1292966	NM_001003800.2(BICD2):c.-69A>G	BICD2, LOC130002076	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1276913	NM_001003800.2(BICD2):c.-66GGC[4]	BICD2, LOC130002076	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1198786	NM_001003800.2(BICD2):c.2258+294G>A	BICD2, LOC130002072	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 989145	NM_001003800.2(BICD2):c.1519AAG[1] (p.Lys508del)	BICD2 (K508del)	Microsatellite (inframe_deletion)	Spastic paraplegia	GPathogenic
Select item 617992	NM_001003800.2(BICD2):c.754G>A (p.Glu252Lys)	BICD2 (E252K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508549	NM_001003800.2(BICD2):c.-46C>T	BICD2, LOC130002076	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 155751	NM_001003800.2(BICD2):c.2296C>T (p.Arg766Trp)	BICD2 (R766W)	Single nucleotide variant (missense variant)	not provided	GBenign