"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126861 - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258558	NM_002180.3(IGHMBP2):c.1538-20C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 258559	NM_002180.3(IGHMBP2):c.1538-8C>G	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GBenign
Select item 258560	NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign
Select item 509916	NM_002180.3(IGHMBP2):c.1632+4C>T	IGHMBP2, LOC126861245	Single nucleotide variant (intron variant)	IGHMBP2-related disorder +4 more	GConflicting classifications of pathogenicity

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