203[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +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	LOC130003109, LOC130003110 +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	LOC130002656, LOC130002657 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 1232991	NM_000476.3(AK1):c.*54C>A	AK1, LOC124310650 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2438950	NM_000476.3(AK1):c.535G>C (p.Val179Leu)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V179L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2690869	NM_000476.3(AK1):c.530G>A (p.Gly177Asp)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G177D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 811970	NM_000476.3(AK1):c.530G>T (p.Gly177Val)	ST6GALNAC4-ST6GALNAC6-AK1, AK1 (G177V +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 1330829	NM_000476.3(AK1):c.522C>T (p.Asn174=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	Hemolytic anemia due to adenylate kinase deficiency	GLikely benign
Select item 1330793	NM_000476.3(AK1):c.517-18C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273254	NM_000476.3(AK1):c.517-75T>C	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1679428	NM_000476.3(AK1):c.516+11C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign/Likely benign
Select item 811655	NM_000476.3(AK1):c.516+11C>A	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2209407	NM_000476.3(AK1):c.511C>T (p.Arg171Cys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R187C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3103330	NM_000476.3(AK1):c.506T>C (p.Ile169Thr)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (I185T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 18265	NM_000476.3(AK1):c.491A>G (p.Tyr164Cys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (Y164C +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 376798	NM_000476.3(AK1):c.484G>A (p.Ala162Thr)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (A162T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2071557	NM_000476.3(AK1):c.483C>T (p.Ile161=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 439396	NM_000476.3(AK1):c.477T>C (p.Pro159=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (no sequence alteration +1 more)	not provided +1 more	GBenign
Select item 2886526	NM_000476.3(AK1):c.450G>A (p.Leu150=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 18268	NM_000476.3(AK1):c.418GAC[1] (p.Asp141del)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (D141del +1 more)	Microsatellite (inframe_deletion)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 2522727	NM_000476.3(AK1):c.412C>T (p.Arg138Cys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R154C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2332217	NM_000476.3(AK1):c.409G>A (p.Gly137Arg)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G137R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GUncertain significance
Select item 2919826	NM_000476.3(AK1):c.408C>T (p.Ser136=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1175800	NM_000476.3(AK1):c.395G>A (p.Arg132His)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R132H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 18263	NM_000476.3(AK1):c.382C>T (p.Arg128Trp)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R128W +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 402354	NM_000476.3(AK1):c.367G>C (p.Glu123Gln)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (E123Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 776766	NM_000476.3(AK1):c.325-9C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1236558	NM_000476.3(AK1):c.324+203C>G	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220707	NM_000476.3(AK1):c.324+198A>C	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 18264	NM_000476.3(AK1):c.319C>T (p.Arg107Ter)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R107* +1 more)	Single nucleotide variant (nonsense)	Hemolytic anemia due to adenylate kinase deficiency	GLikely pathogenic
Select item 2915813	NM_000476.3(AK1):c.318G>A (p.Glu106=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1162194	NM_000476.3(AK1):c.301C>A (p.Gln101Lys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (Q101K +1 more)	Single nucleotide variant (missense variant)	Adenylate kinase deficiency	GPathogenic
Select item 1626397	NM_000476.3(AK1):c.288G>A (p.Pro96=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103321	NM_000476.3(AK1):c.266G>T (p.Gly89Val)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G89V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2690868	NM_000476.3(AK1):c.254A>G (p.Asn85Ser)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (N101S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 1553692	NM_000476.3(AK1):c.246C>G (p.Ala82=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2438954	NM_000476.3(AK1):c.238A>G (p.Met80Val)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (M80V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 734910	NM_000476.3(AK1):c.231G>A (p.Arg77=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2438951	NM_000476.3(AK1):c.229C>T (p.Arg77Trp)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R77W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 1258819	NM_000476.3(AK1):c.207+25A>G	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2250380	NM_000476.3(AK1):c.199G>T (p.Val67Phe)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V83F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 18267	NM_000476.3(AK1):c.190G>A (p.Gly64Arg)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G64R +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 617970	NM_000476.3(AK1):c.186G>A (p.Glu62=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2482817	NM_000476.3(AK1):c.161G>T (p.Gly54Val)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G70V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2438952	NM_000476.3(AK1):c.158G>A (p.Arg53Lys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R53K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2059799	NM_000476.3(AK1):c.153G>A (p.Ser51=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency +1 more	GBenign/Likely benign
Select item 2438949	NM_000476.3(AK1):c.148_149delinsAA (p.Gly50Asn)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G50N +1 more)	Indel (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2384744	NM_000476.3(AK1):c.148G>A (p.Gly50Ser)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G50S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 18269	NM_000476.3(AK1):c.139del (p.Val47fs)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V47fs +1 more)	Deletion (frameshift variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18266	NM_000476.3(AK1):c.118G>A (p.Gly40Arg)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G40R +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 731449	NM_000476.3(AK1):c.102C>T (p.Tyr34=)	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 812011	NM_000476.3(AK1):c.90G>T (p.Gln30His)	ST6GALNAC4-ST6GALNAC6-AK1, AK1 (Q30H +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 1302035	NM_000476.3(AK1):c.85G>A (p.Val29Met)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V29M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438953	NM_000476.3(AK1):c.78G>C (p.Glu26Asp)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (E26D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GUncertain significance
Select item 2364263	NM_000476.3(AK1):c.55T>G (p.Ser19Ala)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (S19A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1330964	NM_000476.3(AK1):c.44-16G>A	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1557376	NM_000476.3(AK1):c.43+20G>A	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896961	NM_000476.3(AK1):c.43+9C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1694007	NM_000476.3(AK1):c.8-9C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1263274	NM_000476.3(AK1):c.8-200T>C	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2921169	NM_000476.3(AK1):c.8-321C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	Hemolytic anemia due to adenylate kinase deficiency	GLikely benign
Select item 1330779	NM_000476.3(AK1):c.8-376C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (synonymous variant +1 more)	Hemolytic anemia due to adenylate kinase deficiency	GBenign
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 2867904	NM_000476.3(AK1):c.7+11C>T	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288854	NM_000476.3(AK1):c.-32-303del	AK1, ST6GALNAC4-ST6GALNAC6-AK1	Deletion (intron variant)	not provided	GBenign
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31 +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	SH3GLB2, SLC25A25 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +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)	OR1L4, PTRH1 +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 1070851	NC_000009.11:g.(?_130577951)_(130700109_?)del	AK1, DPM2 +4 more	Deletion	Hereditary hemorrhagic telangiectasia	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, EEIG1 +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 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	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +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 395014	GRCh37/hg19 9q34.11(chr9:130616981-130636569)x3	AK1, ENG	Copy number gain	See cases	GBenign

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