C4551952[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028507	NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter)	MTMR14 (R67*)	Single nucleotide variant (nonsense)	Autosomal dominant centronuclear myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1032514	NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser)	DNM2, LOC130063529 (G2S)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 560989	NM_001005361.3(DNM2):c.1090C>T (p.Arg364Cys)	DNM2 (R364C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7281	NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)	DNM2 (R465W)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic FDA Recognized database
Select item 1032513	NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu)	DNM2 (I518L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GConflicting classifications of pathogenicity
Select item 158514	NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	DNM2 (R522H +1 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 1029989	NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser)	DNM2 (F804S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance

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