DNAJB9[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 148365	GRCh38/hg38 7q31.1(chr7:108559438-109009742)x1	DNAJB9, LINC02903 +4 more	Copy number loss	See cases	GLikely benign
Select item 2391594	NM_012328.3(DNAJB9):c.19A>G (p.Ile7Val)	DNAJB9 (I7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2243845	NM_012328.3(DNAJB9):c.25A>G (p.Ile9Val)	DNAJB9 (I9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366287	NM_012328.3(DNAJB9):c.73A>G (p.Lys25Glu)	DNAJB9 (K25E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342809	NM_012328.3(DNAJB9):c.128A>G (p.Lys43Arg)	DNAJB9 (K43R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480361	NM_012328.3(DNAJB9):c.188C>T (p.Ala63Val)	DNAJB9 (A63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369701	NM_012328.3(DNAJB9):c.229C>T (p.Leu77Phe)	DNAJB9 (L77F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539817	NM_012328.3(DNAJB9):c.239C>A (p.Ala80Asp)	DNAJB9 (A80D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208944	NM_012328.3(DNAJB9):c.244A>G (p.Arg82Gly)	DNAJB9 (R82G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267847	NM_012328.3(DNAJB9):c.263C>G (p.Thr88Arg)	DNAJB9 (T88R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228897	NM_012328.3(DNAJB9):c.366T>G (p.Phe122Leu)	DNAJB9 (F122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349985	NM_012328.3(DNAJB9):c.400A>G (p.Lys134Glu)	DNAJB9 (K134E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780704	NM_012328.3(DNAJB9):c.407G>A (p.Arg136His)	DNAJB9 (R136H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2620130	NM_012328.3(DNAJB9):c.588T>G (p.Phe196Leu)	DNAJB9 (F196L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684503	GRCh37/hg19 7q31.1(chr7:107981349-110641907)x3	DNAJB9, IMMP2L +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527384	GRCh37/hg19 7q31.1(chr7:108099153-108503957)	DNAJB9, PNPLA8 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 815016	GRCh37/hg19 7q31.1(chr7:108094786-108494963)x3	PNPLA8, DNAJB9 +2 more	Copy number gain	not provided	GLikely benign
Select item 815015	GRCh37/hg19 7q31.1(chr7:107441501-108433812)x1	PNPLA8, DLD +6 more	Copy number loss	not provided	GUncertain significance
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686475	GRCh37/hg19 7q31.1(chr7:107786826-112356275)x1	DNAJB9, DOCK4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 38