"PreventionGenetics, part of Exact Sciences"[submitter] AND "MRTFA"[ge - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720853	NM_020831.6(MRTFA):c.3054C>T (p.Leu1018=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	MRTFA-related disorder +2 more	GBenign/Likely benign
Select item 1682911	NM_020831.6(MRTFA):c.3051C>T (p.Phe1017=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1139999	NM_020831.6(MRTFA):c.2874G>A (p.Pro958=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	MRTFA-related disorder +1 more	GLikely benign
Select item 1682921	NM_020831.6(MRTFA):c.2823C>T (p.Asp941=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1682923	NM_020831.6(MRTFA):c.2796C>T (p.Asp932=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2139156	NM_020831.6(MRTFA):c.2784C>T (p.Thr928=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	MRTFA-related disorder +1 more	GLikely benign
Select item 773374	NM_020831.6(MRTFA):c.2691C>T (p.Leu897=)	MRTFA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1682941	NM_020831.6(MRTFA):c.2574C>T (p.Ser858=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1682944	NM_020831.6(MRTFA):c.2547C>T (p.Asp849=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1682962	NM_020831.6(MRTFA):c.2364+5C>T	MRTFA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1078252	NM_020831.6(MRTFA):c.2197G>A (p.Glu733Lys)	MRTFA (E633K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1682991	NM_020831.6(MRTFA):c.2157G>A (p.Pro719=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1682996	NM_020831.6(MRTFA):c.2094C>T (p.Asn698=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1108883	NM_020831.6(MRTFA):c.2080G>A (p.Ala694Thr)	MRTFA (A594T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1167979	NM_020831.6(MRTFA):c.2079C>T (p.Pro693=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2418135	NM_020831.6(MRTFA):c.2052C>T (p.Cys684=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1683000	NM_020831.6(MRTFA):c.2034G>A (p.Glu678=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1043564	NM_020831.6(MRTFA):c.1993GCCCCC[2] (p.665AP[2])	MRTFA	Microsatellite (inframe_deletion)	MRTFA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1115123	NM_020831.6(MRTFA):c.2004C>G (p.Pro668=)	MRTFA	Single nucleotide variant (synonymous variant)	MRTFA-related disorder +2 more	GBenign/Likely benign
Select item 1150096	NM_020831.6(MRTFA):c.1914G>A (p.Thr638=)	MRTFA	Single nucleotide variant (synonymous variant)	MRTFA-related disorder +1 more	GLikely benign
Select item 1169626	NM_020831.6(MRTFA):c.1653C>G (p.Pro551=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1683061	NM_020831.6(MRTFA):c.1650G>A (p.Thr550=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 775776	NM_020831.6(MRTFA):c.1622T>G (p.Val541Gly)	MRTFA (V476G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1683146	NM_020831.6(MRTFA):c.777+7G>T	MRTFA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1683147	NM_020831.6(MRTFA):c.774C>G (p.Thr258=)	MRTFA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1337995	NM_020831.6(MRTFA):c.325G>A (p.Ala109Thr)	MRTFA (A109T +2 more)	Single nucleotide variant (missense variant)	MRTFA-related disorder +2 more	GConflicting classifications of pathogenicity

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Items: 26