MTREX[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 150391	GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3	CCNO, CCNO-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 152756	GRCh38/hg38 5q11.2(chr5:55241166-55322283)x3	CCNO-DT, DHX29 +3 more	Copy number gain	See cases	GUncertain significance
Select item 2559720	NM_015360.5(MTREX):c.32G>A (p.Ser11Asn)	LOC129993897, MTREX (S11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481517	NM_015360.5(MTREX):c.43G>A (p.Gly15Ser)	LOC129993897, MTREX (G15S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 708819	NM_015360.5(MTREX):c.57T>G (p.Thr19=)	LOC129993897, MTREX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3217521	NM_015360.5(MTREX):c.109C>A (p.Pro37Thr)	LOC129993897, MTREX (P37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606633	NM_015360.5(MTREX):c.119C>T (p.Ser40Phe)	MTREX, LOC129993897 (S40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296766	NM_015360.5(MTREX):c.133G>C (p.Gly45Arg)	MTREX, LOC129993897 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217555	NM_015360.5(MTREX):c.169A>G (p.Thr57Ala)	MTREX (T57A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593331	NM_015360.5(MTREX):c.172A>C (p.Asn58His)	MTREX (N58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296765	NM_015360.5(MTREX):c.196G>A (p.Val66Ile)	MTREX (V66I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482471	NM_015360.5(MTREX):c.239C>T (p.Pro80Leu)	MTREX (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217604	NM_015360.5(MTREX):c.277G>A (p.Ala93Thr)	MTREX (A93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548816	NM_015360.5(MTREX):c.281A>G (p.Asp94Gly)	MTREX (D94G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217623	NM_015360.5(MTREX):c.311T>G (p.Val104Gly)	MTREX (V104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217631	NM_015360.5(MTREX):c.739G>C (p.Ala247Pro)	MTREX (A247P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456669	NM_015360.5(MTREX):c.856A>G (p.Ile286Val)	MTREX (I286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217636	NM_015360.5(MTREX):c.869G>A (p.Arg290Gln)	MTREX (R290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217639	NM_015360.5(MTREX):c.890G>T (p.Cys297Phe)	MTREX (C297F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568481	NM_015360.5(MTREX):c.899A>G (p.His300Arg)	MTREX (H300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217644	NM_015360.5(MTREX):c.901A>G (p.Lys301Glu)	MTREX (K301E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296760	NM_015360.5(MTREX):c.1090C>T (p.Arg364Trp)	MTREX (R364W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217519	NM_015360.5(MTREX):c.1091G>A (p.Arg364Gln)	MTREX (R364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217525	NM_015360.5(MTREX):c.1139T>G (p.Met380Arg)	MTREX (M380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217528	NM_015360.5(MTREX):c.1145T>C (p.Met382Thr)	MTREX (M382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529711	NM_015360.5(MTREX):c.1255A>G (p.Met419Val)	MTREX (M419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455091	NM_015360.5(MTREX):c.1273A>G (p.Ser425Gly)	MTREX (S425G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217546	NM_015360.5(MTREX):c.1297G>A (p.Asp433Asn)	MTREX (D433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520692	NM_015360.5(MTREX):c.1346A>G (p.Lys449Arg)	MTREX (K449R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655463	NM_015360.5(MTREX):c.1482A>G (p.Arg494=)	MTREX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3217550	NM_015360.5(MTREX):c.1606A>G (p.Ile536Val)	MTREX (I536V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296767	NM_015360.5(MTREX):c.1723C>T (p.Arg575Cys)	MTREX (R575C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689688	NM_015360.5(MTREX):c.1781A>G (p.His594Arg)	MTREX (H594R)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 3217562	NM_015360.5(MTREX):c.1904A>G (p.Lys635Arg)	MTREX (K635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655464	NM_015360.5(MTREX):c.1992T>C (p.Asn664=)	MTREX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552025	NM_015360.5(MTREX):c.1996G>A (p.Gly666Arg)	MTREX (G666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217567	NM_015360.5(MTREX):c.1999G>T (p.Asp667Tyr)	MTREX (D667Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494048	NM_015360.5(MTREX):c.2054C>G (p.Pro685Arg)	MTREX (P685R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296762	NM_015360.5(MTREX):c.2056A>G (p.Asn686Asp)	MTREX (N686D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296763	NM_015360.5(MTREX):c.2086G>C (p.Val696Leu)	MTREX (V696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234670	NM_015360.5(MTREX):c.2098C>A (p.Leu700Met)	MTREX (L700M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3217573	NM_015360.5(MTREX):c.2252G>A (p.Arg751Gln)	MTREX (R751Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217576	NM_015360.5(MTREX):c.2257G>A (p.Val753Met)	MTREX (V753M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217580	NM_015360.5(MTREX):c.2299C>G (p.Gln767Glu)	MTREX (Q767E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767998	NM_015360.5(MTREX):c.2358A>G (p.Gln786=)	MTREX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2483861	NM_015360.5(MTREX):c.2372A>G (p.Lys791Arg)	MTREX (K791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217588	NM_015360.5(MTREX):c.2431A>T (p.Asn811Tyr)	MTREX (N811Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296761	NM_015360.5(MTREX):c.2432A>G (p.Asn811Ser)	MTREX (N811S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217592	NM_015360.5(MTREX):c.2456A>G (p.Tyr819Cys)	MTREX (Y819C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217595	NM_015360.5(MTREX):c.2561G>A (p.Arg854His)	MTREX (R854H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217598	NM_015360.5(MTREX):c.2737G>C (p.Val913Leu)	MTREX (V913L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217600	NM_015360.5(MTREX):c.2764C>T (p.Pro922Ser)	MTREX (P922S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492526	NM_015360.5(MTREX):c.2819A>C (p.Lys940Thr)	MTREX (K940T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217612	NM_015360.5(MTREX):c.2825T>C (p.Ile942Thr)	MTREX (I942T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529918	NM_015360.5(MTREX):c.2961T>A (p.Asp987Glu)	MTREX (D987E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217615	NM_015360.5(MTREX):c.3059A>C (p.Glu1020Ala)	MTREX (E1020A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217617	NM_015360.5(MTREX):c.3099T>G (p.Asp1033Glu)	MTREX (D1033E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457703	NM_003711.4(PLPP1):c.836C>T (p.Pro279Leu)	MTREX, PLPP1 (P280L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3215375	NM_003711.4(PLPP1):c.827A>G (p.Asn276Ser)	MTREX, PLPP1 (N276S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2595172	NM_003711.4(PLPP1):c.826A>T (p.Asn276Tyr)	MTREX, PLPP1 (N276Y +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2216760	NM_003711.4(PLPP1):c.781G>C (p.Glu261Gln)	MTREX, PLPP1 (E262Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 686769	GRCh37/hg19 5q11.2(chr5:54527018-55436536)x3	ANKRD55, CCNO +7 more	Copy number gain	not provided	GUncertain significance
Select item 686723	GRCh37/hg19 5q11.2(chr5:54623265-54815203)x3	MTREX, PLPP1	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 444853	GRCh37/hg19 5q11.2(chr5:54635880-55019572)x3	MTREX, PLPP1 +1 more	Copy number gain	not provided	GLikely benign
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 226251	GRCh37/hg19 5q11.2(chr5:53784524-54985838)	SLC38A9, SNX18 +12 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 76