20663[HGNC] - ClinVar

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Items: 61

	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 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
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 2218113	NM_001330988.2(SLC25A25):c.188G>A (p.Gly63Asp)	LOC130002686, SLC25A25 (G63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596446	NM_001330988.2(SLC25A25):c.353G>A (p.Arg118Lys)	SLC25A25 (R84K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269971	NM_001330988.2(SLC25A25):c.412A>T (p.Met138Leu)	SLC25A25 (M138L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623450	NM_001330988.2(SLC25A25):c.481C>T (p.Arg161Ter)	SLC25A25 (R147* +2 more)	Single nucleotide variant (nonsense +1 more)	High myopia	GUncertain significance
Select item 2597416	NM_001330988.2(SLC25A25):c.515T>C (p.Met172Thr)	SLC25A25 (M138T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319215	NM_001330988.2(SLC25A25):c.580G>A (p.Val194Met)	SLC25A25 (V168M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545229	NM_001330988.2(SLC25A25):c.644A>G (p.Asn215Ser)	SLC25A25 (N189S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319217	NM_001330988.2(SLC25A25):c.686C>T (p.Thr229Met)	SLC25A25 (T195M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163655	NM_001330988.2(SLC25A25):c.796C>T (p.Arg266Cys)	SLC25A25 (R220C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163656	NM_001330988.2(SLC25A25):c.868C>T (p.Arg290Trp)	SLC25A25 (R244W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385178	NM_001330988.2(SLC25A25):c.884A>G (p.Asn295Ser)	SLC25A25 (N283S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258095	NM_001330988.2(SLC25A25):c.944G>A (p.Arg315His)	SLC25A25 (R269H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223899	NM_001330988.2(SLC25A25):c.982G>A (p.Glu328Lys)	SLC25A25 (E314K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319216	NM_001330988.2(SLC25A25):c.1058G>A (p.Arg353Gln)	SLC25A25 (R327Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 981158	NM_001330988.2(SLC25A25):c.1083G>C (p.Gln361His)	SLC25A25 (Q315H +4 more)	Single nucleotide variant (missense variant +1 more)	Nephrolithiasis	GPathogenic
Select item 2476730	NM_001330988.2(SLC25A25):c.1129G>C (p.Gly377Arg)	SLC25A25 (G365R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529814	NM_001330988.2(SLC25A25):c.1133T>G (p.Val378Gly)	SLC25A25 (V366G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221139	NM_001330988.2(SLC25A25):c.1357G>A (p.Ala453Thr)	SLC25A25 (A453T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732887	NM_001330988.2(SLC25A25):c.1377C>T (p.Gly459=)	SLC25A25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 711026	NM_001330988.2(SLC25A25):c.1383G>A (p.Pro461=)	SLC25A25	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3163653	NM_001330988.2(SLC25A25):c.1541C>T (p.Ser514Leu)	SLC25A25 (S500L +5 more)	Single nucleotide variant (missense variant +1 more)	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 2685364	GRCh37/hg19 9q34.11(chr9:130782849-130840430)x1	NAIF1, SLC25A25	Copy number loss	not provided	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 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 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 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
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 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, ANGPTL2 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	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 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

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Items: 61