DNAJC24[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 267195	NC_000011.10:g.30896521_31676711del	PAX6DRR, PAX6_HS8 +11 more	Deletion	Congenital aniridia	GPathogenic
Select item 267196	NC_000011.10:g.30988877_31725876del	DCDC1, DNAJC24 +13 more	Deletion	Congenital aniridia	GPathogenic
Select item 148438	GRCh38/hg38 11p13(chr11:31070635-31535274)x1	DCDC1, DNAJC24 +9 more	Copy number loss	See cases	GUncertain significance
Select item 267197	NC_000011.10:g.31130456_31671718del	DCDC1, DNAJC24 +10 more	Deletion	Congenital aniridia	GPathogenic
Select item 151268	GRCh38/hg38 11p13(chr11:31189295-31701133)x1	DCDC1, DNAJC24 +11 more	Copy number loss	See cases	GPathogenic
Select item 267198	NC_000011.10:g.31256273_31773692del	LOC129390273, LOC129390274 +13 more	Deletion	Congenital aniridia	GPathogenic
Select item 560036	Single allele	DCDC1, DNAJC24 +4 more	Deletion	not provided	GUncertain significance
Select item 147813	GRCh38/hg38 11p13(chr11:31299323-31726083)x1	DCDC1, DNAJC24 +12 more	Copy number loss	See cases	GUncertain significance
Select item 146313	GRCh38/hg38 11p13(chr11:31299323-31790071)x1	DCDC1, DNAJC24 +15 more	Copy number loss	See cases	GPathogenic
Select item 267199	NC_000011.10:g.31400877_31729876del	DNAJC24, ELP4 +9 more	Deletion	Congenital aniridia	GPathogenic
Select item 545141	NC_000011.10:g.(?_31405793)_(31548667_?)del	DNAJC24, ELP4 +5 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 2485654	NM_181706.5(DNAJC24):c.203T>G (p.Ile68Ser)	DNAJC24 (I68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273126	NM_181706.5(DNAJC24):c.233A>G (p.Tyr78Cys)	DNAJC24 (Y78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273125	NM_181706.5(DNAJC24):c.239T>G (p.Leu80Arg)	DNAJC24 (L80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084559	NM_181706.5(DNAJC24):c.377A>G (p.Asp126Gly)	DNAJC24 (D126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084560	NM_181706.5(DNAJC24):c.383C>T (p.Ala128Val)	DNAJC24 (A128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305985	NM_001304274.2(IMMP1L):c.479G>T (p.Gly160Val)	DNAJC24, IMMP1L (G160V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3244792	NC_000011.9:g.(?_31349644)_(31832375_?)del	DCDC1, DNAJC24 +3 more	Deletion	not provided	GUncertain significance
Select item 3063225	GRCh37/hg19 11p13(chr11:31158395-31677662)x1	DCDC1, DNAJC24 +2 more	Copy number loss	not specified	GPathogenic
Select item 3063209	GRCh37/hg19 11p13(chr11:31416012-31802761)x1	DNAJC24, ELP4 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3063204	GRCh37/hg19 11p13(chr11:31001762-31555701)x1	DCDC1, DNAJC24 +2 more	Copy number loss	not specified	GUncertain significance
Select item 2685403	GRCh37/hg19 11p13(chr11:31437272-31555701)x1	DNAJC24, ELP4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685402	GRCh37/hg19 11p13(chr11:31296614-31466509)x1	DCDC1, DNAJC24 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2582899	GRCh37/hg19 11p13(chr11:31260027-31639671)x1	DCDC1, ELP4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2427580	NC_000011.9:g.(?_30253450)_(32460464_?)del	ARL14EP, DCDC1 +9 more	Deletion	not provided	GUncertain significance
Select item 2426507	NC_000011.9:g.(?_31284610)_(31671789_?)del	DCDC1, DNAJC24 +2 more	Deletion	not provided	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1695895	GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	BDNF, BDNF-AS +11 more	Copy number loss	not provided	Gnot provided
Select item 1340711	GRCh37/hg19 11p13(chr11:31415634-31790329)x1	DNAJC24, ELP4 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 1072681	NC_000011.9:g.(?_31284590)_(31824402_?)del	DCDC1, DNAJC24 +3 more	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 997825	Single allele	AQP11, CABP4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	CCDC73, CD59 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ARL14EP, ART1 +343 more	Copy number gain	not provided	GPathogenic
Select item 689279	GRCh37/hg19 11p13(chr11:31326349-31415981)x3	DCDC1, DNAJC24	Copy number gain	not provided	GUncertain significance
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 686012	GRCh37/hg19 11p13(chr11:31416012-31822354)x1	DNAJC24, ELP4 +2 more	Copy number loss	not provided	GPathogenic
Select item 647471	NC_000011.9:g.(?_31284590)_(31832374_?)del	DCDC1, DNAJC24 +3 more	Deletion	Aniridia 1 +1 more	GPathogenic
Select item 583750	NC_000011.9:g.(?_31284590)_(32456911_?)del	IMMP1L, DCDC1 +5 more	Deletion	Aniridia 1 +5 more	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563829	GRCh37/hg19 11p13(chr11:31351185-31573646)x3	DCDC1, DNAJC24 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563823	GRCh37/hg19 11p13(chr11:31325456-31501794)x1	DNAJC24, DCDC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	HBG1, HBG2 +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	GAL3ST3, GALNT18 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	MRGPRX3, MRGPRX4 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	BDNF-AS, BMAL1 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 394849	GRCh37/hg19 11p13(chr11:31438509-31653901)	DNAJC24, ELP4 +1 more	Copy number loss	See cases	GUncertain significance
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376758	GRCh37/hg19 11p13(chr11:31083877-31704548)x1	DCDC1, DNAJC24 +2 more	Copy number loss	Aniridia 1	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 376754	GRCh37/hg19 11p13(chr11:31186493-31698208)x1	DNAJC24, ELP4 +2 more	Copy number loss	Aniridia 1	GPathogenic
Select item 376753	GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1	MPPED2, KCNA4 +12 more	Copy number loss	11p partial monosomy syndrome	GPathogenic
Select item 376752	GRCh37/hg19 11p13(chr11:31147306-31714853)x1	DCDC1, DNAJC24 +2 more	Copy number loss	Aniridia 1	GPathogenic
Select item 267192	NC_000011.8:g.31199000_31914000del715001	DCDC1, DNAJC24 +3 more	Deletion	Congenital aniridia	GPathogenic
Select item 267191	NC_000011.8:g.31199000_31849000del650001	DCDC1, DNAJC24 +3 more	Deletion	Congenital aniridia	GPathogenic
Select item 253873	GRCh37/hg19 11p13(chr11:31312348-31454239)x1	DCDC1, DNAJC24 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 253466	GRCh37/hg19 11p13(chr11:31284306-32458309)x1	DCDC1, DNAJC24 +6 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63