MTX2[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 805937	NM_006554.5(MTX2):c.2T>A (p.Met1Lys)	MTX2 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	Mandibuloacral dysplasia progeroid syndrome +1 more	GPathogenic
Select item 3218744	NM_006554.5(MTX2):c.109G>A (p.Asp37Asn)	MTX2 (D37N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398611	NM_006554.5(MTX2):c.131T>C (p.Val44Ala)	MTX2 (V44A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627385	NM_006554.5(MTX2):c.135+2T>C	MTX2	Single nucleotide variant (splice donor variant)	Mandibuloacral dysplasia progeroid syndrome	GLikely pathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 805938	NM_006554.5(MTX2):c.208+3_208+6del	MTX2	Deletion (splice donor variant)	Mandibuloacral dysplasia progeroid syndrome +1 more	GPathogenic
Select item 2370467	NM_006554.5(MTX2):c.223A>T (p.Ile75Phe)	MTX2 (I65F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827676	NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer)	MTX2	Microsatellite (nonsense)	Mandibuloacral dysplasia progeroid syndrome +10 more	GPathogenic
Select item 3296815	NM_006554.5(MTX2):c.347A>C (p.Glu116Ala)	MTX2 (E106A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621067	NM_006554.5(MTX2):c.383A>G (p.Tyr128Cys)	MTX2 (Y118C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361276	NM_006554.5(MTX2):c.409G>A (p.Val137Ile)	MTX2 (V137I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278947	NM_006554.5(MTX2):c.473C>G (p.Ala158Gly)	MTX2 (A158G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 805939	NM_006554.5(MTX2):c.544-1G>C	MTX2	Single nucleotide variant (splice acceptor variant +1 more)	Mandibuloacral dysplasia progeroid syndrome +1 more	GPathogenic
Select item 2651565	NM_006554.5(MTX2):c.573A>G (p.Gln191=)	MTX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2560002	NM_006554.5(MTX2):c.580T>C (p.Ser194Pro)	MTX2 (S171P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296814	NM_006554.5(MTX2):c.601C>T (p.Pro201Ser)	MTX2 (P201S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 805940	NM_006554.5(MTX2):c.603del (p.Tyr202fs)	MTX2 (Y179fs +2 more)	Deletion (frameshift variant +1 more)	Progeroid mandibuloacral dysplasia +1 more	GPathogenic
Select item 3296816	NM_006554.5(MTX2):c.662C>T (p.Thr221Ile)	MTX2 (T211I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218762	NM_006554.5(MTX2):c.670A>G (p.Thr224Ala)	MTX2 (T214A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218765	NM_006554.5(MTX2):c.711A>C (p.Lys237Asn)	MTX2 (K227N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238862	NM_006554.5(MTX2):c.721A>G (p.Asn241Asp)	MTX2 (N218D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590903	NM_006554.5(MTX2):c.766G>C (p.Asp256His)	MTX2 (D246H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244465	NM_006554.5(MTX2):c.770G>A (p.Arg257His)	MTX2 (R247H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339874	GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3	ATF2, ATP5MC3 +22 more	Copy number gain	not provided	Gnot provided
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 974748	NC_000002.11:g.177128475_177259979dup	MTX2	Duplication	Megacolon	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 688385	GRCh37/hg19 2q31.1(chr2:177062988-177509634)x3	MTX2	Copy number gain	not provided	GUncertain significance
Select item 688374	GRCh37/hg19 2q31.1(chr2:177073852-177509634)x3	MTX2	Copy number gain	not provided	GUncertain significance
Select item 688324	GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1	AGPS, EVX2 +19 more	Copy number loss	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 625773	GRCh37/hg19 2q31.1-31.2(chr2:176794846-178494259)	AGPS, EVX2 +17 more	Copy number loss	not provided	GPathogenic
Select item 562664	GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1	AGPS, ATF2 +29 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 54