MPST[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 3203417	NM_021126.8(MPST):c.31A>G (p.Thr11Ala)	LOC130067339, MPST +1 more (T11A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2520278	NM_021126.8(MPST):c.71C>T (p.Pro24Leu)	MPST (P24L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253645	NM_021126.8(MPST):c.98C>T (p.Ala33Val)	MPST (A13V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274536	NM_021126.8(MPST):c.100C>A (p.Gln34Lys)	MPST (Q14K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295758	NM_021126.8(MPST):c.102A>C (p.Gln34His)	MPST (Q14H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203396	NM_021126.8(MPST):c.149A>C (p.Gln50Pro)	MPST (Q30P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360008	NM_021126.8(MPST):c.208G>C (p.Glu70Gln)	MPST (E50Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278162	NM_021126.8(MPST):c.215G>A (p.Arg72His)	MPST (R52H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037468	NM_021126.8(MPST):c.227G>T (p.Gly76Val)	MPST (G56V +1 more)	Single nucleotide variant (missense variant)	MPST-related disorder	GLikely benign
Select item 2335599	NM_021126.8(MPST):c.262C>A (p.Arg88Ser)	MPST (R88S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243341	NM_021126.8(MPST):c.278A>T (p.Asp93Val)	MPST (D93V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203413	NM_021126.8(MPST):c.308C>A (p.Ala103Glu)	MPST (A103E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 684529	NM_021126.8(MPST):c.314A>G (p.Tyr105Cys)	MPST (Y85C +1 more)	Single nucleotide variant (missense variant)	Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria	Gnot provided
Select item 2557958	NM_021126.8(MPST):c.329G>C (p.Gly110Ala)	MPST (G90A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479397	NM_021126.8(MPST):c.389C>T (p.Ala130Val)	MPST (A130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548352	NM_021126.8(MPST):c.397G>A (p.Val133Ile)	MPST (V113I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294023	NM_021126.8(MPST):c.457C>A (p.Arg153Ser)	MPST (R153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295755	NM_021126.8(MPST):c.470G>A (p.Arg157His)	MPST (R137H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476670	NM_021126.8(MPST):c.519G>C (p.Glu173Asp)	MPST (E153D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249500	NM_021126.8(MPST):c.629G>A (p.Arg210His)	MPST (R210H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295759	NM_021126.8(MPST):c.635C>T (p.Thr212Ile)	MPST (T192I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333899	NM_021126.8(MPST):c.676C>A (p.Pro226Thr)	MPST (P206T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203449	NM_021126.8(MPST):c.685G>C (p.Val229Leu)	MPST (V209L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203456	NM_021126.8(MPST):c.731A>G (p.Lys244Arg)	MPST (K244R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211989	NM_021126.8(MPST):c.763G>A (p.Glu255Lys)	MPST (E235K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467304	NM_021126.8(MPST):c.875A>T (p.Tyr292Phe)	MPST (Y292F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203462	NM_021126.8(MPST):c.905G>A (p.Arg302His)	MPST (R302H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215601	NM_021126.8(MPST):c.908C>T (p.Ala303Val)	MPST (A303V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384980	NM_021126.8(MPST):c.916G>A (p.Glu306Lys)	MPST (E286K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	H1-0, IFT27 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 49