1780[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 2253922	NM_001261.4(CDK9):c.71A>G (p.Lys24Arg)	CDK9, LOC113839512 (K24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141609	NM_001261.4(CDK9):c.172G>C (p.Gly58Arg)	CDK9 (G58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780135	NM_001261.4(CDK9):c.175-7C>T	CDK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3054334	NM_001261.4(CDK9):c.175-3C>T	CDK9	Single nucleotide variant (intron variant)	CDK9-related disorder	GLikely benign
Select item 3050549	NM_001261.4(CDK9):c.189C>A (p.Ala63=)	CDK9	Single nucleotide variant (synonymous variant)	CDK9-related disorder	GBenign
Select item 3061565	NM_001261.4(CDK9):c.318C>T (p.Cys106=)	CDK9	Single nucleotide variant (synonymous variant)	CDK9-related disorder	GLikely benign
Select item 3043552	NM_001261.4(CDK9):c.327C>T (p.Asp109=)	CDK9	Single nucleotide variant (synonymous variant)	CDK9-related disorder	GLikely benign
Select item 3033495	NM_001261.4(CDK9):c.353T>C (p.Leu118Ser)	CDK9 (L118S)	Single nucleotide variant (missense variant)	CDK9-related disorder	GUncertain significance
Select item 2430993	NM_001261.4(CDK9):c.368T>G (p.Leu123Arg)	CDK9 (L123R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323201	NM_001261.4(CDK9):c.385G>A (p.Val129Met)	CDK9 (V129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055715	NM_001261.4(CDK9):c.433-6C>T	CDK9	Single nucleotide variant (intron variant)	CDK9-related disorder	GBenign
Select item 2324517	NM_001261.4(CDK9):c.502T>A (p.Phe168Ile)	CDK9 (F168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3349761	NM_001261.4(CDK9):c.607G>T (p.Glu203Ter)	CDK9 (E203*)	Single nucleotide variant (nonsense)	CDK9-related disorder	GLikely benign
Select item 3048234	NM_001261.4(CDK9):c.656T>C (p.Met219Thr)	CDK9 (M219T)	Single nucleotide variant (missense variant)	CDK9-related disorder	GUncertain significance
Select item 1217410	NM_001261.4(CDK9):c.673C>T (p.Arg225Cys)	CDK9 (R225C)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 2554321	NM_001261.4(CDK9):c.698C>T (p.Thr233Met)	CDK9 (T233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037641	NM_001261.4(CDK9):c.754-8C>T	CDK9	Single nucleotide variant (intron variant)	CDK9-related disorder	GLikely benign
Select item 3141610	NM_001261.4(CDK9):c.766G>A (p.Val256Met)	CDK9 (V256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659515	NM_001261.4(CDK9):c.876C>T (p.Ile292=)	CDK9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321982	NM_001261.4(CDK9):c.908G>T (p.Arg303Leu)	CDK9 (R303L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265508	NM_001261.4(CDK9):c.976G>A (p.Gly326Ser)	CDK9 (G326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265506	NM_001261.4(CDK9):c.986C>T (p.Ser329Phe)	CDK9 (S329F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054575	NM_001261.4(CDK9):c.1062C>T (p.Thr354=)	CDK9	Single nucleotide variant (synonymous variant)	CDK9-related disorder	GLikely benign
Select item 3032843	NM_001261.4(CDK9):c.1083C>T (p.Ala361=)	CDK9	Single nucleotide variant (synonymous variant)	CDK9-related disorder	GLikely benign
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 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 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	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