31412[HGNC] - ClinVar

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Items: 58

	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 3100735	NM_001366244.2(GOLGA2):c.23C>T (p.Pro8Leu)	GOLGA2, SWI5 (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172503	NM_001040011.1(SWI5):c.10C>A (p.Arg4Ser)	SWI5 (R4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334789	NM_001040011.1(SWI5):c.10C>T (p.Arg4Cys)	SWI5 (R4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323785	NM_001040011.1(SWI5):c.13G>C (p.Gly5Arg)	SWI5 (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292295	NM_001040011.1(SWI5):c.13G>A (p.Gly5Ser)	SWI5 (G5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323784	NM_001040011.1(SWI5):c.14G>A (p.Gly5Asp)	SWI5 (G5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323786	NM_001040011.1(SWI5):c.80A>G (p.Glu27Gly)	SWI5 (E27G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389577	NM_001040011.1(SWI5):c.82A>G (p.Arg28Gly)	SWI5 (R28G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409077	NM_001040011.1(SWI5):c.119T>C (p.Leu40Pro)	SWI5 (L40P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533782	NM_001318089.2(SWI5):c.-65A>C	SWI5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3323781	NM_001318089.2(SWI5):c.-46A>C	SWI5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2455066	NM_001318089.2(SWI5):c.-18C>A	SWI5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3323783	NM_001318089.2(SWI5):c.-15T>C	SWI5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2342142	NM_001318089.2(SWI5):c.44G>C (p.Arg15Pro)	LOC130002702, SWI5 (R15P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323787	NM_001318089.2(SWI5):c.63-115T>C	SWI5 (I23T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323782	NM_001318089.2(SWI5):c.199A>G (p.Met67Val)	SWI5 (M107V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391773	NM_001318089.2(SWI5):c.203T>G (p.Leu68Arg)	SWI5 (L68R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549544	NM_001318089.2(SWI5):c.222G>C (p.Gln74His)	SWI5 (Q114H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172505	NM_001318089.2(SWI5):c.247G>A (p.Asp83Asn)	SWI5 (D132N +3 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 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 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 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

ClinVar

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Items: 58