ClinVar for Gene (Select 25822) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3503913	NM_001349723.3(DNAJB5):c.-144A>C	DNAJB5, LOC129662434	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3503912	NM_001349723.3(DNAJB5):c.47C>G (p.Pro16Arg)	DNAJB5 (P16R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3503911	NM_001135004.2(DNAJB5):c.62G>T (p.Arg21Leu)	DNAJB5, LOC129662434 (R21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273038	NM_001349723.3(DNAJB5):c.70C>T (p.Arg24Trp)	DNAJB5 (R24W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3273037	NM_001349723.3(DNAJB5):c.-175C>T	DNAJB5, LOC129662434	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3084400	NM_001349723.3(DNAJB5):c.460T>C (p.Ser154Pro)	DNAJB5 (S154P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084399	NM_001349723.3(DNAJB5):c.254C>T (p.Ser85Leu)	DNAJB5 (S47L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084397	NM_001349723.3(DNAJB5):c.-147C>T	DNAJB5, LOC129662434	Single nucleotide variant (5 prime UTR variant)	not specified	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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2659167	NM_001349723.3(DNAJB5):c.674C>A (p.Pro225Gln)	DNAJB5 (P153Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659166	NM_001349723.3(DNAJB5):c.614A>G (p.Glu205Gly)	DNAJB5 (E133G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659165	NM_001349723.3(DNAJB5):c.147T>G (p.Leu49=)	DNAJB5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659164	NM_012266.5(DNAJB5):c.-146G>T	DNAJB5, LOC129662434 (G18C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2597821	NM_001349723.3(DNAJB5):c.-202C>T	DNAJB5, LOC129662434	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2558747	NM_001349723.3(DNAJB5):c.416A>G (p.Tyr139Cys)	DNAJB5 (Y139C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427794	NC_000009.11:g.(?_34370797)_(36276941_?)dup	RGP1, RMRP +51 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ANKRD18B, APTX +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	ANKRD18B, APTX +87 more	Duplication	not provided	GUncertain significance
Select item 2411217	NM_001349723.3(DNAJB5):c.-153G>A	DNAJB5, LOC129662434	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2398770	NM_001349723.3(DNAJB5):c.117G>T (p.Met39Ile)	DNAJB5 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218078	NM_001349723.3(DNAJB5):c.649G>A (p.Gly217Ser)	DNAJB5 (G217S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205282	NM_001349723.3(DNAJB5):c.640G>A (p.Gly214Ser)	DNAJB5 (G176S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2186065	NM_001349723.3(DNAJB5):c.613G>A (p.Glu205Lys)	DNAJB5 (E133K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711687	NM_001349723.3(DNAJB5):c.1216A>C (p.Thr406Pro)	DNAJB5 (T334P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1701569	NM_001349723.3(DNAJB5):c.942C>T (p.Ile314=)	DNAJB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701568	NM_001349723.3(DNAJB5):c.563G>A (p.Arg188His)	DNAJB5 (R116H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1701567	NM_001349723.3(DNAJB5):c.439G>A (p.Gly147Ser)	DNAJB5 (G109S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1695248	NM_001349723.3(DNAJB5):c.448A>T (p.Thr150Ser)	DNAJB5 (T112S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695247	NM_001349723.3(DNAJB5):c.442_447del (p.Gly148_Gly149del)	DNAJB5	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1299141	NC_000009.12:g.34989665T>A	DNAJB5, LOC129662434	Single nucleotide variant	not provided	GUncertain significance
Select item 1176901	NM_001349723.3(DNAJB5):c.830G>A (p.Arg277His)	DNAJB5 (R205H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1070621	NC_000009.11:g.(?_34459004)_(36276941_?)del	ARID3C, ATOSB +48 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 1042271	NC_000009.11:g.(?_34458994)_(35072710_?)dup	ENHO, GALT +15 more	Duplication	Autosomal recessive distal spinal muscular atrophy 2 +3 more	GUncertain significance
Select item 1013328	NC_000009.12:g.34989686G>A	DNAJB5, LOC129662434	Single nucleotide variant	not provided	GUncertain significance
Select item 980343	GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3	ACO1, ANKRD18B +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 871717	NM_001349723.3(DNAJB5):c.423G>A (p.Glu141=)	DNAJB5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 815260	GRCh37/hg19 9p13.3(chr9:34699039-35060746)x3	FAM205A, DNAJB5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 810368	NM_001349723.3(DNAJB5):c.-133+6G>A	DNAJB5, LOC129662434	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 810367	NM_001349723.3(DNAJB5):c.-211_-207dup	DNAJB5, LOC129662434	Duplication (5 prime UTR variant)	not provided	GUncertain significance
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 689135	GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3	ALDH1B1, ANKRD18A +74 more	Copy number gain	not provided	GPathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 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 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 584345	NC_000009.11:g.(?_34458984)_(36277059_?)dup	HRCT1, IL11RA +48 more	Duplication	Amyotrophic lateral sclerosis type 16 +1 more	GUncertain significance
Select item 583851	NC_000009.11:g.(?_34458984)_(35809462_?)del	CCL19, CCL21 +37 more	Deletion	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 473211	NC_000009.11:g.(?_34458984)_(35809462_?)dup	NPR2, PHF24 +37 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 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 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 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
Select item 243086	NM_001349723.3(DNAJB5):c.43C>T (p.Pro15Ser)	DNAJB5 (P15S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 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 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 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 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 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 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic

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