Related gene-specific medical variations for Gene (Select 387104) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2568424	NM_001400265.1(MTCL3):c.2686A>G (p.Lys896Glu)	SOGA3-KIAA0408, MTCL3 (K896E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555201	NM_001400265.1(MTCL3):c.495A>C (p.Glu165Asp)	LOC129997124, MTCL3 +1 more (E165D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550972	NM_001400265.1(MTCL3):c.938C>T (p.Ala313Val)	MTCL3, SOGA3-KIAA0408 (A313V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550555	NM_001400265.1(MTCL3):c.1093A>T (p.Thr365Ser)	MTCL3, SOGA3-KIAA0408 (T365S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547894	NM_001400265.1(MTCL3):c.250A>C (p.Lys84Gln)	MTCL3, SOGA3-KIAA0408 (K84Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537937	NM_001400265.1(MTCL3):c.1664A>G (p.His555Arg)	MTCL3, SOGA3-KIAA0408 (H555R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491694	NM_001400265.1(MTCL3):c.1114G>A (p.Glu372Lys)	MTCL3, SOGA3-KIAA0408 (E372K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491240	NM_001400265.1(MTCL3):c.638G>A (p.Gly213Glu)	MTCL3, SOGA3-KIAA0408 (G213E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480191	NM_001400265.1(MTCL3):c.1000G>A (p.Ala334Thr)	MTCL3, SOGA3-KIAA0408 (A334T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468624	NM_001400265.1(MTCL3):c.847G>A (p.Gly283Ser)	MTCL3, SOGA3-KIAA0408 (G283S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412420	NM_001400265.1(MTCL3):c.451G>C (p.Glu151Gln)	LOC129997124, MTCL3 +1 more (E151Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409441	NM_001400265.1(MTCL3):c.432G>T (p.Glu144Asp)	LOC129997124, MTCL3 +1 more (E144D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385051	NM_001400265.1(MTCL3):c.1007C>A (p.Pro336His)	MTCL3, SOGA3-KIAA0408 (P336H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376265	NM_001400265.1(MTCL3):c.523G>A (p.Gly175Arg)	LOC129997124, MTCL3 +1 more (G175R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371303	NM_001400265.1(MTCL3):c.2624A>G (p.Asn875Ser)	MTCL3, SOGA3-KIAA0408 (N875S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367913	NM_001400265.1(MTCL3):c.2223C>A (p.His741Gln)	MTCL3, SOGA3-KIAA0408 (H741Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340980	NM_001400265.1(MTCL3):c.931A>G (p.Met311Val)	MTCL3, SOGA3-KIAA0408 (M311V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338919	NM_001400265.1(MTCL3):c.1714C>G (p.Pro572Ala)	MTCL3, SOGA3-KIAA0408 (P572A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327703	NM_001400265.1(MTCL3):c.809C>T (p.Ala270Val)	MTCL3, SOGA3-KIAA0408 (A270V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325564	NM_001400265.1(MTCL3):c.2665A>G (p.Ile889Val)	MTCL3, SOGA3-KIAA0408 (I889V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324758	NM_001400265.1(MTCL3):c.730G>A (p.Gly244Ser)	MTCL3, SOGA3-KIAA0408 (G244S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323994	NM_001400265.1(MTCL3):c.1898C>T (p.Pro633Leu)	MTCL3, SOGA3-KIAA0408 (P633L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322289	NM_001400265.1(MTCL3):c.2095G>C (p.Glu699Gln)	MTCL3, SOGA3-KIAA0408 (E699Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283181	NM_001400265.1(MTCL3):c.1194G>C (p.Glu398Asp)	MTCL3, SOGA3-KIAA0408 (E398D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262734	NM_001400265.1(MTCL3):c.172C>T (p.Arg58Trp)	SOGA3-KIAA0408, MTCL3 (R58W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253333	NM_001400265.1(MTCL3):c.389C>T (p.Ala130Val)	SOGA3-KIAA0408, LOC129997124 +1 more (A130V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239648	NM_001400265.1(MTCL3):c.317C>A (p.Thr106Lys)	MTCL3, SOGA3-KIAA0408 (T106K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226106	NM_001400265.1(MTCL3):c.584G>T (p.Gly195Val)	LOC129997124, MTCL3 +1 more (G195V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226105	NM_001400265.1(MTCL3):c.562C>T (p.Pro188Ser)	SOGA3-KIAA0408, LOC129997124 +1 more (P188S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222505	NM_001400265.1(MTCL3):c.2677G>C (p.Glu893Gln)	MTCL3, SOGA3-KIAA0408 (E893Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208791	NM_001400265.1(MTCL3):c.2716C>T (p.Pro906Ser)	MTCL3, SOGA3-KIAA0408 (P906S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1684509	NM_001400265.1(MTCL3):c.2332G>C (p.Gly778Arg)	MTCL3, SOGA3-KIAA0408 (G778R)	Single nucleotide variant (non-coding transcript variant +1 more)	Decreased body weight +6 more	GUncertain significance
Select item 1329644	NM_001012279.3(SOGA3):c.1992C>T (p.Ala664=)	MTCL3, SOGA3-KIAA0408	Single nucleotide variant	not provided	GBenign
Select item 782254	NM_001012279.3(SOGA3):c.267G>A (p.Thr89=)	MTCL3, SOGA3-KIAA0408	Single nucleotide variant	not provided	GBenign
Select item 714998	NM_001012279.3(SOGA3):c.147G>C (p.Ser49=)	MTCL3, SOGA3-KIAA0408	Single nucleotide variant	not provided	GBenign
Select item 689629	NM_001012279.3(SOGA3):c.2289C>G (p.Asp763Glu)	SOGA3, SOGA3-KIAA0408	Single nucleotide variant	not provided	GUncertain significance

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Links from Gene

Items: 36