18752[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50