"Genome-Nilou Lab"[submitter] AND "IGHMBP2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258555	NM_002180.3(IGHMBP2):c.-2C>T	IGHMBP2	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign
Select item 258575	NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 258576	NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)	IGHMBP2 (L201S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +4 more	GBenign
Select item 258577	NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)	IGHMBP2 (I275V)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 258560	NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)	IGHMBP2, LOC126861245	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 258566	NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala)	IGHMBP2 (T671A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 258567	NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)	IGHMBP2 (R694W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 258570	NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)	IGHMBP2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 194368	NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)	IGHMBP2 (T879K)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +4 more	GBenign