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

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2490580	NM_020831.6(MRTFA):c.3025G>A (p.Ala1009Thr)	MRTFA (A909T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1682930	NM_020831.6(MRTFA):c.2671C>T (p.Pro891Ser)	MRTFA (A894V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1682935	NM_020831.6(MRTFA):c.2636C>T (p.Pro879Leu)	MRTFA (P779L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1682937	NM_020831.6(MRTFA):c.2603C>T (p.Pro868Leu)	MRTFA (P768L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2549986	NM_020831.6(MRTFA):c.2496G>A (p.Met832Ile)	MRTFA (M732I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1682951	NM_020831.6(MRTFA):c.2449C>T (p.Pro817Ser)	MRTFA (P717S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2491878	NM_020831.6(MRTFA):c.2447C>A (p.Thr816Asn)	MRTFA (T716N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1682985	NM_020831.6(MRTFA):c.2201C>T (p.Pro734Leu)	MRTFA (P634L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2170377	NM_020831.6(MRTFA):c.2188C>T (p.Pro730Ser)	MRTFA (P665S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1683027	NM_020831.6(MRTFA):c.1864G>A (p.Asp622Asn)	MRTFA (D522N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1683028	NM_020831.6(MRTFA):c.1862G>A (p.Arg621His)	MRTFA (R521H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2495450	NM_020831.6(MRTFA):c.1771G>T (p.Ala591Ser)	MRTFA (A541S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683049	NM_020831.6(MRTFA):c.1699G>A (p.Asp567Asn)	MRTFA (D467N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2472071	NM_020831.6(MRTFA):c.1604C>T (p.Thr535Met)	MRTFA (T435M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1683069	NM_020831.6(MRTFA):c.1600G>A (p.Ala534Thr)	MRTFA (A434T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1900400	NM_020831.6(MRTFA):c.1552G>A (p.Gly518Arg)	MRTFA (G468R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1683083	NM_020831.6(MRTFA):c.1433G>A (p.Arg478Gln)	MRTFA (R378Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2527954	NM_020831.6(MRTFA):c.1416G>T (p.Glu472Asp)	MRTFA (E372D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2552823	NM_020831.6(MRTFA):c.1216C>A (p.Pro406Thr)	MRTFA (P306T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959662	NM_020831.6(MRTFA):c.1210G>A (p.Gly404Arg)	MRTFA (G404R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2485938	NM_020831.6(MRTFA):c.1052G>A (p.Gly351Glu)	MRTFA (G286E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542270	NM_020831.6(MRTFA):c.869C>A (p.Pro290His)	MRTFA (P190H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1011679	NM_020831.6(MRTFA):c.869C>T (p.Pro290Leu)	MRTFA (P190L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2608836	NM_020831.6(MRTFA):c.763G>A (p.Ala255Thr)	MRTFA (A190T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556625	NM_020831.6(MRTFA):c.718C>T (p.Pro240Ser)	MRTFA (P240S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1922508	NM_020831.6(MRTFA):c.713C>T (p.Pro238Leu)	MRTFA (P173L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 26