MTX1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3296813	NM_002455.5(MTX1):c.60G>T (p.Trp20Cys)	MTX1, THBS3 (W20C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218696	NM_002455.5(MTX1):c.113G>T (p.Arg38Leu)	MTX1, THBS3 (R38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541254	NM_002455.5(MTX1):c.158G>A (p.Arg53Gln)	MTX1, THBS3 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767706	NM_002455.5(MTX1):c.187T>A (p.Ser63Thr)	MTX1, THBS3 (S63T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3218706	NM_002455.5(MTX1):c.212C>G (p.Ala71Gly)	MTX1, THBS3 (A71G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483170	NM_002455.5(MTX1):c.253C>T (p.Pro85Ser)	LOC129931558, MTX1 +1 more (P85S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331727	NM_002455.5(MTX1):c.287G>A (p.Arg96His)	LOC129931558, MTX1 +1 more (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218714	NM_002455.5(MTX1):c.302G>A (p.Ser101Asn)	LOC129931558, MTX1 +1 more (S101N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218717	NM_002455.5(MTX1):c.326C>T (p.Ser109Phe)	LOC129931558, MTX1 +1 more (S109F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345022	NM_002455.5(MTX1):c.328C>A (p.Pro110Thr)	LOC129931558, MTX1 +1 more (P110T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218721	NM_002455.5(MTX1):c.344G>A (p.Gly115Asp)	LOC129931558, MTX1 +1 more (G115D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207998	NM_002455.5(MTX1):c.350T>C (p.Leu117Pro)	LOC129931558, MTX1 +1 more (L117P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391376	NM_002455.5(MTX1):c.355G>A (p.Ala119Thr)	LOC129931558, MTX1 +1 more (A119T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326783	NM_002455.5(MTX1):c.359C>G (p.Thr120Arg)	LOC129931558, MTX1 +1 more (T120R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218732	NM_002455.5(MTX1):c.428C>T (p.Pro143Leu)	LOC129931558, MTX1 (P143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218737	NM_002455.5(MTX1):c.484G>T (p.Gly162Cys)	MTX1 (G162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466879	NM_002455.5(MTX1):c.528+289C>T	MTX1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ADAM15, DENND4B +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394057	GRCh37/hg19 1q22(chr1:155181714-155207954)x3	GBA1, MTX1	Copy number gain	See cases	GBenign/Likely benign

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Items: 35