MTCL3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +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	LOC129997100, LOC129997101 +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 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 2568424	NM_001400265.1(MTCL3):c.2686A>G (p.Lys896Glu)	MTCL3, SOGA3-KIAA0408 (K896E)	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 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 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 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 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 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 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)	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 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 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 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 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 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 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 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 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 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 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 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 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 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)	LOC129997124, MTCL3 +1 more (P188S)	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 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 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 2253333	NM_001400265.1(MTCL3):c.389C>T (p.Ala130Val)	LOC129997124, MTCL3 +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 782254	NM_001012279.3(SOGA3):c.267G>A (p.Thr89=)	MTCL3, SOGA3-KIAA0408	Single nucleotide variant	not provided	GBenign
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 2262734	NM_001400265.1(MTCL3):c.172C>T (p.Arg58Trp)	MTCL3, SOGA3-KIAA0408 (R58W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50