ClinVar for MedGen (Select 1648362) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2431908	NM_001003800.2(BICD2):c.1579C>G (p.Leu527Val)	BICD2 (L527V)	Single nucleotide variant (missense variant)	Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	GUncertain significance
Select item 1773727	NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)	BICD2 (E497S)	Indel (missense variant)	Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant +1 more	GUncertain significance
Select item 1527969	NM_001003800.2(BICD2):c.1543G>A (p.Glu515Lys)	BICD2 (E515K)	Single nucleotide variant (missense variant)	Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	GLikely pathogenic
Select item 1167684	NM_001003800.2(BICD2):c.1401C>T (p.His467=)	BICD2	Single nucleotide variant (synonymous variant)	BICD2-related disorder +2 more	GBenign/Likely benign
Select item 834774	NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys)	BICD2 (E291K)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 678244	NM_001003800.2(BICD2):c.1063-111G>C	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more	GBenign
Select item 617527	NM_001003800.2(BICD2):c.581A>G (p.Gln194Arg)	BICD2 (Q194R)	Single nucleotide variant (missense variant)	Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	GPathogenic
Select item 429371	NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys)	BICD2 (E774K)	Single nucleotide variant (missense variant)	Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 422408	NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)	BICD2 (N546del)	Deletion (inframe_deletion)	Inborn genetic diseases +15 more	GPathogenic/Likely pathogenic
Select item 387003	NM_001003800.2(BICD2):c.2258+15G>C	BICD2	Single nucleotide variant (intron variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +3 more	GBenign/Likely benign
Select item 210526	NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)	BICD2 (R694C)	Single nucleotide variant (missense variant)	Spinal muscular atrophy, lower extremity-predominant, 2, AD +2 more	GPathogenic/Likely pathogenic