"Genetic Services Laboratory, University of Chicago"[submitter] AND "S - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436851	NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His)	SPTBN2 (R2252H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 130371	NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala)	SPTBN2 (V1034A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +3 more	GBenign
Select item 488611	NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)	SPTBN2 (L626P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 436855	NM_006946.4(SPTBN2):c.1653+13C>T	SPTBN2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 448482	NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)	SPTBN2	Deletion (inframe_deletion)	Spinocerebellar ataxia type 5 +1 more	GPathogenic
Select item 450038	NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)	SPTBN2 (M436T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 212299	NM_006946.4(SPTBN2):c.1043A>T (p.Asn348Ile)	SPTBN2 (N348I)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 436854	NM_006946.4(SPTBN2):c.1042A>G (p.Asn348Asp)	SPTBN2 (N348D)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 130372	NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)	SPTBN2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 5 +2 more	GBenign/Likely benign
Select item 212300	NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu)	SPTBN2 (K61E)	Single nucleotide variant (missense variant)	Cerebellar ataxia +1 more	GLikely pathogenic
Select item 436852	NM_006946.4(SPTBN2):c.172G>A (p.Val58Met)	SPTBN2 (V58M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 436853	NM_006946.4(SPTBN2):c.91T>C (p.Ser31Pro)	SPTBN2 (S31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance