"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 426960	NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)	IGHMBP2 (Q55H)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1456797	NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys)	IGHMBP2 (R264C)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +2 more	GConflicting classifications of pathogenicity
Select item 284364	NM_002180.3(IGHMBP2):c.1060+8G>T	IGHMBP2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GConflicting classifications of pathogenicity
Select item 245627	NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	IGHMBP2 (L361P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 620136	NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)	IGHMBP2 (Q446*)	Single nucleotide variant (nonsense)	Distal spinal muscular atrophy +3 more	GPathogenic
Select item 234316	NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	IGHMBP2 (C496*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 245630	NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)	IGHMBP2 (F579L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +2 more	GPathogenic/Likely pathogenic
Select item 637463	NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys)	IGHMBP2 (R603C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 235774	NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)	IGHMBP2 (R603H)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GConflicting classifications of pathogenicity
Select item 162195	NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	IGHMBP2 (R971fs)	Microsatellite (frameshift variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GPathogenic/Likely pathogenic