"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129683	NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)	MYOT, PKD2L2-DT	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3 +3 more	GBenign/Likely benign
Select item 167317	NM_006790.3(MYOT):c.220= (p.Gln74=)	MYOT, PKD2L2-DT	Single nucleotide variant (no sequence alteration +1 more)	not provided +2 more	GBenign
Select item 281070	NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)	MYOT, PKD2L2-DT (N108T)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar Myopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 95439	NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3 +2 more	GBenign/Likely benign
Select item 95440	NM_006790.3(MYOT):c.445G>C (p.Glu149Gln)	MYOT, PKD2L2-DT (E34Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar myopathy 3 +3 more	GBenign/Likely benign
Select item 129684	NM_006790.3(MYOT):c.780G>A (p.Ser260=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3 +3 more	GBenign/Likely benign
Select item 198548	NM_006790.3(MYOT):c.1008G>T (p.Val336=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 995619	NM_006790.3(MYOT):c.1242C>T (p.Asn414=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 3 +1 more	GConflicting classifications of pathogenicity