"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986345	NM_002180.3(IGHMBP2):c.34_35insCC (p.Lys12fs)	IGHMBP2 (K12fs)	Insertion (frameshift variant)	Spinal muscular atrophy	GLikely pathogenic
Select item 228355	NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)	IGHMBP2 (R43*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 637263	NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)	IGHMBP2 (R130*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GPathogenic/Likely pathogenic
Select item 373749	NM_002180.3(IGHMBP2):c.547+1G>A	IGHMBP2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +2 more	GPathogenic/Likely pathogenic
Select item 217449	NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)	IGHMBP2 (K328fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2584463	NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)	IGHMBP2 (S419fs)	Duplication (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 637695	NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)	IGHMBP2 (R425C)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GConflicting classifications of pathogenicity

ClinVar