MTCL3[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148855	GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1	C6orf58, CENPW +61 more	Copy number loss	See cases	GUncertain significance
Select item 58445	GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1	C6orf58, CENPW +34 more	Copy number loss	See cases	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 3235436	NM_001400265.1(MTCL3):c.2749A>G (p.Ile917Val)	MTCL3, SOGA3-KIAA0408 (I917V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3296556	NM_001400265.1(MTCL3):c.2704G>A (p.Gly902Ser)	MTCL3, SOGA3-KIAA0408 (G902S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2568424	NM_001400265.1(MTCL3):c.2686A>G (p.Lys896Glu)	MTCL3, SOGA3-KIAA0408 (K896E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3296557	NM_001400265.1(MTCL3):c.2672G>A (p.Arg891His)	MTCL3, SOGA3-KIAA0408 (R891H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3235433	NM_001400265.1(MTCL3):c.2367C>G (p.Ile789Met)	MTCL3, SOGA3-KIAA0408 (I789M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	Global developmental delay +6 more	GUncertain significance
Select item 689629	NM_001012279.3(SOGA3):c.2289C>G (p.Asp763Glu)	MTCL3, SOGA3-KIAA0408	Single nucleotide variant	not provided +1 more	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)	not specified	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)	not specified	GUncertain significance
Select item 3235431	NM_001400265.1(MTCL3):c.2053G>T (p.Gly685Cys)	MTCL3, SOGA3-KIAA0408 (G685C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 2323994	NM_001400265.1(MTCL3):c.1898C>T (p.Pro633Leu)	MTCL3, SOGA3-KIAA0408 (P633L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3235428	NM_001400265.1(MTCL3):c.1033C>G (p.Gln345Glu)	MTCL3, SOGA3-KIAA0408 (Q345E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3235427	NM_001400265.1(MTCL3):c.1024C>G (p.His342Asp)	MTCL3, SOGA3-KIAA0408 (H342D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3235442	NM_001400265.1(MTCL3):c.949G>A (p.Gly317Ser)	MTCL3, SOGA3-KIAA0408 (G317S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3296562	NM_001400265.1(MTCL3):c.739G>A (p.Gly247Arg)	MTCL3, SOGA3-KIAA0408 (G247R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3296563	NM_001400265.1(MTCL3):c.646C>T (p.Pro216Ser)	MTCL3, SOGA3-KIAA0408 (P216S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3235441	NM_001400265.1(MTCL3):c.628G>A (p.Gly210Ser)	MTCL3, SOGA3-KIAA0408 (G210S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3296558	NM_001400265.1(MTCL3):c.580A>G (p.Arg194Gly)	LOC129997124, MTCL3 +1 more (R194G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2226105	NM_001400265.1(MTCL3):c.562C>T (p.Pro188Ser)	LOC129997124, MTCL3 +1 more (P188S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3235439	NM_001400265.1(MTCL3):c.553G>C (p.Gly185Arg)	LOC129997124, MTCL3 +1 more (G185R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2253333	NM_001400265.1(MTCL3):c.389C>T (p.Ala130Val)	LOC129997124, MTCL3 +1 more (A130V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296560	NM_001400265.1(MTCL3):c.338C>T (p.Ala113Val)	MTCL3, SOGA3-KIAA0408 (A113V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3235438	NM_001400265.1(MTCL3):c.328C>T (p.Pro110Ser)	MTCL3, SOGA3-KIAA0408 (P110S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3235437	NM_001400265.1(MTCL3):c.326C>A (p.Ala109Glu)	MTCL3, SOGA3-KIAA0408 (A109E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3296561	NM_001400265.1(MTCL3):c.305C>T (p.Ala102Val)	MTCL3, SOGA3-KIAA0408 (A102V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 782254	NM_001012279.3(SOGA3):c.267G>A (p.Thr89=)	MTCL3, SOGA3-KIAA0408	Single nucleotide variant	not provided	GBenign
Select item 3235434	NM_001400265.1(MTCL3):c.256G>C (p.Gly86Arg)	MTCL3, SOGA3-KIAA0408 (G86R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2262734	NM_001400265.1(MTCL3):c.172C>T (p.Arg58Trp)	MTCL3, SOGA3-KIAA0408 (R58W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 714998	NM_001012279.3(SOGA3):c.147G>C (p.Ser49=)	MTCL3, SOGA3-KIAA0408	Single nucleotide variant	not provided	GBenign
Select item 3296564	NM_001400265.1(MTCL3):c.86C>T (p.Pro29Leu)	MTCL3, SOGA3-KIAA0408 (P29L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3235430	NM_001400265.1(MTCL3):c.19G>T (p.Gly7Trp)	MTCL3, SOGA3-KIAA0408 (G7W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic
Select item 442326	GRCh37/hg19 6q22.33(chr6:127303904-128482021)x1	C6orf58, PTPRK +6 more	Copy number loss	See cases	GLikely benign

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Items: 73