"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MTFMT"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138266	NM_139242.4(MTFMT):c.1065G>A (p.Gln355=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 138265	NM_139242.4(MTFMT):c.906G>A (p.Thr302=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 559243	NM_139242.4(MTFMT):c.646-18dup	MTFMT	Duplication (intron variant)	not provided	GBenign
Select item 559241	NM_139242.4(MTFMT):c.646-18_646-17dup	MTFMT	Duplication (intron variant)	not provided	GBenign
Select item 559242	NM_139242.4(MTFMT):c.646-5del	MTFMT	Deletion (intron variant)	not provided	GBenign
Select item 559240	NM_139242.4(MTFMT):c.646-6_646-5del	MTFMT	Deletion (intron variant)	not provided	GLikely benign
Select item 39827	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT (S209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GPathogenic
Select item 559244	NM_139242.4(MTFMT):c.216C>G (p.Asn72Lys)	MTFMT (N72K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138270	NM_139242.4(MTFMT):c.186G>C (p.Ala62=)	MTFMT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 440931	NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile)	MTFMT (F58I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 133323	NM_139242.4(MTFMT):c.146_153del (p.Arg49fs)	MTFMT (R49fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 548003	NM_139242.4(MTFMT):c.19C>G (p.Arg7Gly)	MTFMT (R7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 374493	NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp)	MTFMT (R6W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 138269	NM_139242.4(MTFMT):c.14T>C (p.Val5Ala)	MTFMT (V5A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign