MAPK9[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 3123341	NM_002752.5(MAPK9):c.1271G>C (p.Arg424Pro)	MAPK9 (R424P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2372903	NM_002752.5(MAPK9):c.1250C>T (p.Thr417Met)	MAPK9 (T417M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3123340	NM_002752.5(MAPK9):c.1211C>T (p.Thr404Met)	MAPK9 (T378M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3123339	NM_002752.5(MAPK9):c.1199C>G (p.Ser400Cys)	MAPK9 (S400C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3123338	NM_002752.5(MAPK9):c.1181A>G (p.Asn394Ser)	MAPK9 (N368S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2546242	NM_002752.5(MAPK9):c.1126C>A (p.Pro376Thr)	MAPK9 (P376T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224093	NM_002752.5(MAPK9):c.861C>G (p.Asp287Glu)	MAPK9 (D261E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285572	NM_002752.5(MAPK9):c.617-399G>A	MAPK9 (G212R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406919	NM_002752.5(MAPK9):c.556G>A (p.Val186Met)	MAPK9 (V160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220403	NM_002752.5(MAPK9):c.427C>T (p.His143Tyr)	MAPK9 (H117Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2684438	GRCh37/hg19 5q35.3(chr5:179565253-180051586)x3	CNOT6, FLT4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1809328	GRCh37/hg19 5q35.3(chr5:177746012-179975280)x3	ADAMTS2, C5orf60 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527211	GRCh37/hg19 5q35.3(chr5:179217944-179694141)	LTC4S, MAPK9 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527207	GRCh37/hg19 5q35.3(chr5:177954576-180198875)	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979543	GRCh37/hg19 5q35.3(chr5:179522222-179952028)x3	CNOT6, RASGEF1C +2 more	Copy number gain	not provided	GUncertain significance
Select item 979540	GRCh37/hg19 5q35.3(chr5:179528704-179860433)x1	MAPK9, GFPT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 973605	GRCh37/hg19 5q35.3(chr5:179606925-179807137)x1	GFPT2, MAPK9 +1 more	Copy number loss	Intellectual disability	GUncertain significance
Select item 814764	GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3	OR2V2, TRIM7 +22 more	Copy number gain	not provided	GUncertain significance
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563137	GRCh37/hg19 5q35.3(chr5:179694142-179799330)x1	MAPK9, GFPT2	Copy number loss	not provided	GUncertain significance
Select item 563136	GRCh37/hg19 5q35.3(chr5:179240909-180035580)x3	GFPT2, SQSTM1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	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 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 393911	GRCh37/hg19 5q35.3(chr5:179663119-179857751)x3	GFPT2, MAPK9	Copy number gain	See cases	GUncertain significance
Select item 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 50