"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MTFMT"[gen - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985377	NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln)	MTFMT (K377Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2645450	NM_139242.4(MTFMT):c.972C>T (p.Cys324=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 378176	NM_139242.4(MTFMT):c.885C>T (p.Val295=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2570906	NM_139242.4(MTFMT):c.834_835delinsAT (p.Trp278_Met279delinsTer)	MTFMT	Indel (nonsense)	not provided	GPathogenic
Select item 138264	NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys)	MTFMT (R266C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 516310	NM_139242.4(MTFMT):c.667T>A (p.Leu223Met)	MTFMT (L223M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2083783	NM_139242.4(MTFMT):c.645+3A>G	MTFMT	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 39827	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT (S209L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15 +10 more	GPathogenic
Select item 1711383	NM_139242.4(MTFMT):c.419+2T>C	MTFMT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2645451	NM_139242.4(MTFMT):c.273A>C (p.Pro91=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645452	NM_139242.4(MTFMT):c.209+109A>G	LOC130057308, MTFMT	Single nucleotide variant (intron variant)	not provided	GBenign
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 133323	NM_139242.4(MTFMT):c.146_153del (p.Arg49fs)	MTFMT (R49fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2645453	NM_139242.4(MTFMT):c.21C>T (p.Arg7=)	MTFMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 374493	NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp)	MTFMT (R6W)	Single nucleotide variant (missense variant)	MTFMT-related condition +2 more	GBenign/Likely benign
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic