"Ambry Genetics"[submitter] AND "LOC126859840"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2348970	NM_025107.3(MYCT1):c.293G>C (p.Arg98Thr)	LOC126859840, MYCT1 (R50T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218090	NM_025107.3(MYCT1):c.299G>C (p.Ser100Thr)	LOC126859840, MYCT1 (S100T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272708	NM_025107.3(MYCT1):c.337A>G (p.Arg113Gly)	LOC126859840, MYCT1 (R65G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532322	NM_025107.3(MYCT1):c.520C>T (p.Pro174Ser)	LOC126859840, MYCT1 (P126S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296784	NM_025107.3(MYCT1):c.523C>T (p.Pro175Ser)	LOC126859840, MYCT1 (P127S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307522	NM_025107.3(MYCT1):c.659C>T (p.Pro220Leu)	LOC126859840, MYCT1 (P172L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar