23723[HGNC] - ClinVar

Search results

Items: 100

	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 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 3245266	NC_000009.11:g.(?_130911805)_(131302617_?)dup	BBLN, CERCAM +43 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 2272039	NM_016174.5(CERCAM):c.13C>G (p.Arg5Gly)	CERCAM, LOC130002708 (R5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143125	NM_016174.5(CERCAM):c.53C>T (p.Pro18Leu)	CERCAM, LOC130002708 (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3266314	NM_016174.5(CERCAM):c.86C>T (p.Pro29Leu)	CERCAM, LOC130002708 (P29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143119	NM_016174.5(CERCAM):c.115G>A (p.Ala39Thr)	CERCAM, LOC130002708 (A39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315051	NM_016174.5(CERCAM):c.224A>G (p.Asn75Ser)	CERCAM (N75S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2554401	NM_016174.5(CERCAM):c.278C>T (p.Ala93Val)	CERCAM (A15V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474138	NM_016174.5(CERCAM):c.281T>G (p.Val94Gly)	CERCAM (V16G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615673	NM_016174.5(CERCAM):c.405C>A (p.Asn135Lys)	CERCAM (N57K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266082	NM_016174.5(CERCAM):c.458A>G (p.Asn153Ser)	CERCAM (N153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393225	NM_016174.5(CERCAM):c.469C>T (p.Arg157Trp)	CERCAM (R157W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260815	NM_016174.5(CERCAM):c.559C>G (p.Gln187Glu)	CERCAM (Q109E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143126	NM_016174.5(CERCAM):c.591C>A (p.Phe197Leu)	CERCAM (F119L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143127	NM_016174.5(CERCAM):c.626G>A (p.Arg209His)	CERCAM (R131H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143128	NM_016174.5(CERCAM):c.691T>C (p.Phe231Leu)	CERCAM (F231L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463136	NM_016174.5(CERCAM):c.698C>T (p.Pro233Leu)	CERCAM (P155L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590466	NM_016174.5(CERCAM):c.739G>A (p.Val247Ile)	CERCAM (V169I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347978	NM_016174.5(CERCAM):c.742T>G (p.Phe248Val)	CERCAM (F170V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608472	NM_016174.5(CERCAM):c.772T>G (p.Ser258Ala)	CERCAM (S180A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143130	NM_016174.5(CERCAM):c.797G>A (p.Arg266His)	CERCAM (R188H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266310	NM_016174.5(CERCAM):c.800A>G (p.Tyr267Cys)	CERCAM (Y189C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389364	NM_016174.5(CERCAM):c.836G>A (p.Gly279Glu)	CERCAM (G201E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143131	NM_016174.5(CERCAM):c.877G>C (p.Glu293Gln)	CERCAM (E215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527497	NM_016174.5(CERCAM):c.881C>G (p.Ala294Gly)	CERCAM (A216G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143132	NM_016174.5(CERCAM):c.898C>T (p.Arg300Cys)	CERCAM (R222C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143133	NM_016174.5(CERCAM):c.899G>A (p.Arg300His)	CERCAM (R300H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612004	NM_016174.5(CERCAM):c.917A>T (p.His306Leu)	CERCAM (H228L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480209	NM_016174.5(CERCAM):c.918T>G (p.His306Gln)	CERCAM (H228Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143134	NM_016174.5(CERCAM):c.947A>G (p.Lys316Arg)	CERCAM (K238R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339664	NM_016174.5(CERCAM):c.961G>A (p.Glu321Lys)	CERCAM (E321K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508868	NM_016174.5(CERCAM):c.985C>T (p.Arg329Cys)	CERCAM (R251C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389310	NM_016174.5(CERCAM):c.998G>A (p.Arg333His)	CERCAM (R255H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365878	NM_016174.5(CERCAM):c.1000C>T (p.Arg334Trp)	CERCAM (R256W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510070	NM_016174.5(CERCAM):c.1001G>A (p.Arg334Gln)	CERCAM (R334Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143117	NM_016174.5(CERCAM):c.1015G>A (p.Ala339Thr)	CERCAM (A261T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143118	NM_016174.5(CERCAM):c.1111C>G (p.Leu371Val)	CERCAM (L293V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386925	NM_016174.5(CERCAM):c.1144C>T (p.Arg382Cys)	CERCAM (R304C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492218	NM_016174.5(CERCAM):c.1183C>G (p.His395Asp)	CERCAM (H317D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545481	NM_016174.5(CERCAM):c.1225C>T (p.Arg409Trp)	CERCAM (R409W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266311	NM_016174.5(CERCAM):c.1253G>A (p.Arg418His)	CERCAM (R340H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143120	NM_016174.5(CERCAM):c.1277G>A (p.Arg426Gln)	CERCAM (R348Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544631	NM_016174.5(CERCAM):c.1351G>A (p.Val451Met)	CERCAM (V451M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143121	NM_016174.5(CERCAM):c.1375G>A (p.Val459Met)	CERCAM (V381M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266316	NM_016174.5(CERCAM):c.1415A>G (p.Tyr472Cys)	CERCAM (Y472C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266315	NM_016174.5(CERCAM):c.1456A>G (p.Lys486Glu)	CERCAM (K486E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291030	NM_016174.5(CERCAM):c.1459C>G (p.Leu487Val)	CERCAM (L487V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143122	NM_016174.5(CERCAM):c.1465G>A (p.Ala489Thr)	CERCAM (A411T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262674	NM_016174.5(CERCAM):c.1480C>T (p.Arg494Cys)	CERCAM (R416C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266309	NM_016174.5(CERCAM):c.1481G>A (p.Arg494His)	CERCAM (R494H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326687	NM_016174.5(CERCAM):c.1484G>C (p.Arg495Pro)	CERCAM (R495P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283353	NM_016174.5(CERCAM):c.1484G>A (p.Arg495His)	CERCAM (R495H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143124	NM_016174.5(CERCAM):c.1537G>A (p.Glu513Lys)	CERCAM (E435K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333258	NM_016174.5(CERCAM):c.1579T>G (p.Phe527Val)	CERCAM (F449V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333096	NM_016174.5(CERCAM):c.1580T>C (p.Phe527Ser)	CERCAM (F449S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266313	NM_016174.5(CERCAM):c.1590G>C (p.Gln530His)	CERCAM (Q530H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266312	NM_016174.5(CERCAM):c.1628C>A (p.Ala543Asp)	CERCAM (A465D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337172	NM_016174.5(CERCAM):c.1678G>A (p.Gly560Ser)	CERCAM (G482S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518799	NM_016174.5(CERCAM):c.1681C>T (p.Arg561Cys)	CERCAM (R561C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224571	NM_016174.5(CERCAM):c.1682G>A (p.Arg561His)	CERCAM (R561H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	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 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
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 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	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 1341013	GRCh37/hg19 9q34.11(chr9:130948822-131227396)x3	CERCAM, CIZ1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 831938	NC_000009.12:g.(?_127815672)_(128541180_?)del	AK1, BBLN +22 more	Deletion	not provided	GPathogenic
Select item 815298	GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3	GLE1, SH3GLB2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 815297	GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1	ENDOG, SET +31 more	Copy number loss	not provided	GPathogenic
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 441058	GRCh37/hg19 9q34.11(chr9:131184326-131503894)x1	CERCAM, DYNC2I2 +7 more	Copy number loss	not provided	Gnot provided
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 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: 100