C4015349[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 429896	NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)	IGHMBP2 (G98fs)	Indel (frameshift variant)	not provided +2 more	GPathogenic
Select item 534927	NM_002180.3(IGHMBP2):c.449+1G>A	IGHMBP2	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GPathogenic
Select item 1033903	NM_002180.3(IGHMBP2):c.727C>T (p.Pro243Ser)	IGHMBP2 (P243S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +1 more	GUncertain significance
Select item 218603	NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)	IGHMBP2 (A256G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GConflicting classifications of pathogenicity
Select item 1468031	NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys)	IGHMBP2 (E376K)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 573815	NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)	IGHMBP2 (W386R)	Single nucleotide variant (missense variant)	Autosomal recessive distal spinal muscular atrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 217450	NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	IGHMBP2 (T493I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2S +3 more	GPathogenic/Likely pathogenic
Select item 1030529	NM_002180.3(IGHMBP2):c.1537+5G>A	IGHMBP2	Single nucleotide variant (intron variant)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GConflicting classifications of pathogenicity
Select item 561032	NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)	IGHMBP2 (R570*)	Single nucleotide variant (nonsense)	Autosomal recessive distal spinal muscular atrophy 1 +1 more	GPathogenic
Select item 245630	NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)	IGHMBP2 (F579L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 194494	NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)	IGHMBP2 (D974E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity