MAPKAP1[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 2324160	NM_001006617.3(MAPKAP1):c.1511A>C (p.Lys504Thr)	MAPKAP1 (K312T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716985	NM_001006617.3(MAPKAP1):c.1464G>A (p.Ser488=)	MAPKAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3123344	NM_001006617.3(MAPKAP1):c.1427A>G (p.Asn476Ser)	MAPKAP1 (N284S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790626	NM_001006617.3(MAPKAP1):c.1368G>A (p.Thr456=)	MAPKAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2351118	NM_001006617.3(MAPKAP1):c.1354A>G (p.Ile452Val)	MAPKAP1 (I416V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123343	NM_001006617.3(MAPKAP1):c.1271G>T (p.Trp424Leu)	MAPKAP1 (W232L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293265	NM_001006617.3(MAPKAP1):c.1111A>G (p.Ile371Val)	MAPKAP1 (I335V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123342	NM_001006617.3(MAPKAP1):c.1019C>G (p.Thr340Ser)	LOC124310642, MAPKAP1 (T148S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770956	NM_001006617.3(MAPKAP1):c.906G>A (p.Lys302=)	MAPKAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3123348	NM_001006617.3(MAPKAP1):c.740C>T (p.Pro247Leu)	MAPKAP1 (P247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243613	NM_001006617.3(MAPKAP1):c.601G>A (p.Ala201Thr)	MAPKAP1 (A9T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123347	NM_001006617.3(MAPKAP1):c.532G>C (p.Asp178His)	MAPKAP1 (D178H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1277692	NM_001006617.3(MAPKAP1):c.498+12942C>G	MAPKAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2593769	NM_001006617.3(MAPKAP1):c.410G>C (p.Gly137Ala)	MAPKAP1 (G137A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123346	NM_001006617.3(MAPKAP1):c.373G>A (p.Glu125Lys)	MAPKAP1 (E125K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385502	NM_001006617.3(MAPKAP1):c.98A>G (p.Asp33Gly)	MAPKAP1 (D33G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123349	NM_001006617.3(MAPKAP1):c.95T>C (p.Ile32Thr)	MAPKAP1 (I32T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789199	NM_001006617.3(MAPKAP1):c.48G>A (p.Gln16=)	MAPKAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2406938	NM_001006617.3(MAPKAP1):c.44G>A (p.Arg15Gln)	MAPKAP1 (R15Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486788	NM_001006617.3(MAPKAP1):c.31C>G (p.Leu11Val)	MAPKAP1 (L11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123345	NM_001006617.3(MAPKAP1):c.22A>G (p.Thr8Ala)	MAPKAP1 (T8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2685363	GRCh37/hg19 9q33.3(chr9:128229678-128283154)x1	MAPKAP1	Copy number loss	not provided	GUncertain significance
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1340239	GRCh37/hg19 9q33.3(chr9:128294099-128534814)x3	MAPKAP1, PBX3	Copy number gain	not provided	GUncertain significance
Select item 687947	GRCh37/hg19 9q33.3(chr9:128447535-128472084)x1	MAPKAP1	Copy number loss	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 50