"Ambry Genetics"[submitter] AND "MTIF2"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2257155	NM_002453.3(MTIF2):c.2123G>A (p.Arg708Lys)	MTIF2 (R465K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236899	NM_002453.3(MTIF2):c.2091T>A (p.Asp697Glu)	MTIF2 (D454E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290573	NM_002453.3(MTIF2):c.2070G>A (p.Met690Ile)	MTIF2 (M447I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215525	NM_002453.3(MTIF2):c.1924C>A (p.Pro642Thr)	MTIF2 (P399T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549515	NM_002453.3(MTIF2):c.1862A>G (p.His621Arg)	MTIF2 (H621R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215520	NM_002453.3(MTIF2):c.1802G>A (p.Arg601His)	MTIF2 (R601H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379347	NM_002453.3(MTIF2):c.1801C>T (p.Arg601Cys)	MTIF2 (R601C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215515	NM_002453.3(MTIF2):c.1797T>G (p.Ile599Met)	MTIF2 (I599M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547376	NM_002453.3(MTIF2):c.1777A>G (p.Ile593Val)	MTIF2 (I350V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256658	NM_002453.3(MTIF2):c.1681G>C (p.Val561Leu)	MTIF2 (V318L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296655	NM_002453.3(MTIF2):c.1627G>C (p.Glu543Gln)	MTIF2 (E543Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495996	NM_002453.3(MTIF2):c.1478G>A (p.Arg493Gln)	MTIF2 (R250Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358916	NM_002453.3(MTIF2):c.1478G>T (p.Arg493Leu)	MTIF2 (R250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337586	NM_002453.3(MTIF2):c.1454T>C (p.Leu485Pro)	MTIF2 (L485P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459644	NM_002453.3(MTIF2):c.1439A>T (p.Lys480Met)	MTIF2 (K237M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362226	NM_002453.3(MTIF2):c.1433G>A (p.Arg478His)	MTIF2 (R478H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380826	NM_002453.3(MTIF2):c.1415A>C (p.Glu472Ala)	MTIF2 (E229A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525618	NM_002453.3(MTIF2):c.1394A>G (p.Glu465Gly)	MTIF2 (E222G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215485	NM_002453.3(MTIF2):c.1389A>G (p.Ile463Met)	MTIF2 (I220M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217109	NM_002453.3(MTIF2):c.1280C>T (p.Ala427Val)	MTIF2 (A184V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296652	NM_002453.3(MTIF2):c.1222G>A (p.Asp408Asn)	MTIF2 (D165N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479729	NM_002453.3(MTIF2):c.1221T>G (p.Ile407Met)	MTIF2 (I164M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274320	NM_002453.3(MTIF2):c.1190G>A (p.Arg397His)	MTIF2 (R154H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215475	NM_002453.3(MTIF2):c.1181C>T (p.Ala394Val)	MTIF2 (A394V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461744	NM_002453.3(MTIF2):c.1061C>T (p.Pro354Leu)	MTIF2 (P354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409770	NM_002453.3(MTIF2):c.1021C>T (p.Leu341Phe)	MTIF2 (L341F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548873	NM_002453.3(MTIF2):c.979A>G (p.Thr327Ala)	MTIF2 (T327A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467776	NM_002453.3(MTIF2):c.976C>T (p.Leu326Phe)	MTIF2 (L326F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 520564	NM_002453.3(MTIF2):c.899_909del (p.Val300fs)	MTIF2 (V300fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3215554	NM_002453.3(MTIF2):c.821A>G (p.Gln274Arg)	MTIF2 (Q274R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296654	NM_002453.3(MTIF2):c.797T>G (p.Met266Arg)	MTIF2 (M23R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509654	NM_002453.3(MTIF2):c.782C>G (p.Ala261Gly)	MTIF2 (A18G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462661	NM_002453.3(MTIF2):c.766G>A (p.Val256Ile)	MTIF2 (V13I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215549	NM_002453.3(MTIF2):c.751G>A (p.Val251Ile)	MTIF2 (V8I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215546	NM_002453.3(MTIF2):c.732G>C (p.Met244Ile)	MTIF2 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215542	NM_002453.3(MTIF2):c.716C>T (p.Ala239Val)	MTIF2 (A239V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487222	NM_002453.3(MTIF2):c.714T>G (p.His238Gln)	MTIF2 (H238Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215540	NM_002453.3(MTIF2):c.614T>C (p.Val205Ala)	MTIF2 (V205A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460066	NM_002453.3(MTIF2):c.581C>T (p.Thr194Met)	MTIF2 (T194M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 225013	NM_002453.3(MTIF2):c.573C>G (p.His191Gln)	MTIF2 (H191Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2255972	NM_002453.3(MTIF2):c.536G>C (p.Arg179Thr)	MTIF2 (R179T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619809	NM_002453.3(MTIF2):c.518C>T (p.Pro173Leu)	MTIF2 (P173L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296651	NM_002453.3(MTIF2):c.476T>G (p.Val159Gly)	MTIF2 (V159G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362250	NM_002453.3(MTIF2):c.424A>G (p.Ile142Val)	MTIF2 (I142V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205175	NM_002453.3(MTIF2):c.416A>T (p.Lys139Ile)	MTIF2 (K139I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296653	NM_002453.3(MTIF2):c.295A>G (p.Ile99Val)	MTIF2 (I99V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2251692	NM_002453.3(MTIF2):c.164C>G (p.Thr55Arg)	MTIF2 (T55R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211164	NM_002453.3(MTIF2):c.158G>T (p.Trp53Leu)	MTIF2 (W53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296656	NM_002453.3(MTIF2):c.127G>A (p.Val43Met)	MTIF2 (V43M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 49