DNAJB4[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 152108	GRCh38/hg38 1p31.1(chr1:77777821-79122486)x1	ADGRL4, DNAJB4 +33 more	Copy number loss	See cases	GUncertain significance
Select item 3039041	NM_001317100.2(DNAJB4):c.73C>T (p.Arg25Ter)	DNAJB4 (R25*)	Single nucleotide variant (nonsense +1 more)	DNAJB4-related disorder	GLikely benign
Select item 2320467	NM_007034.5(DNAJB4):c.4G>A (p.Gly2Arg)	DNAJB4 (G2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541697	NM_007034.5(DNAJB4):c.54A>C (p.Glu18Asp)	DNAJB4 (E18D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499484	NM_007034.5(DNAJB4):c.74G>A (p.Arg25Gln)	DNAJB4	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 21 with early respiratory failure	GPathogenic
Select item 3344647	NM_007034.5(DNAJB4):c.98C>T (p.Pro33Leu)	DNAJB4 (P33L)	Single nucleotide variant (missense variant +1 more)	DNAJB4-related disorder	GUncertain significance
Select item 2335492	NM_007034.5(DNAJB4):c.157G>A (p.Glu53Lys)	DNAJB4 (E53K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499485	NM_007034.5(DNAJB4):c.181A>G (p.Arg61Gly)	DNAJB4 (R61G)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 21 with early respiratory failure	GPathogenic
Select item 2306849	NM_007034.5(DNAJB4):c.226G>C (p.Ala76Pro)	DNAJB4 (A76P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2617161	NM_007034.5(DNAJB4):c.349G>C (p.Gly117Arg)	DNAJB4 (G77R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273034	NM_007034.5(DNAJB4):c.385G>A (p.Gly129Ser)	DNAJB4 (G14S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330268	NM_007034.5(DNAJB4):c.438G>C (p.Arg146Ser)	DNAJB4 (R106S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273035	NM_007034.5(DNAJB4):c.545C>T (p.Ser182Phe)	DNAJB4 (S142F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273033	NM_007034.5(DNAJB4):c.703A>G (p.Ile235Val)	DNAJB4 (I120V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361286	NM_007034.5(DNAJB4):c.758C>T (p.Thr253Ile)	DNAJB4 (T138I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499483	NM_007034.5(DNAJB4):c.785T>C (p.Leu262Ser)	DNAJB4 (L147S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 21 with early respiratory failure	GPathogenic
Select item 2277354	NM_007034.5(DNAJB4):c.790G>C (p.Gly264Arg)	DNAJB4 (G224R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613661	NM_007034.5(DNAJB4):c.808C>T (p.Pro270Ser)	DNAJB4 (P270S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499482	NM_007034.5(DNAJB4):c.856A>T (p.Lys286Ter)	DNAJB4 (K171* +1 more)	Single nucleotide variant (nonsense +1 more)	Congenital myopathy 21 with early respiratory failure	GPathogenic
Select item 3273036	NM_007034.5(DNAJB4):c.862G>A (p.Gly288Arg)	DNAJB4 (G248R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460277	NM_007034.5(DNAJB4):c.875G>T (p.Arg292Ile)	DNAJB4 (R252I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3346854	NM_007034.5(DNAJB4):c.924dup (p.Asp309Ter)	DNAJB4 (D194* +2 more)	Duplication (nonsense +1 more)	DNAJB4-related disorder	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685808	GRCh37/hg19 1p31.1(chr1:78421460-79541287)x3	ADGRL4, DNAJB4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808070	GRCh37/hg19 1p31.1(chr1:78356361-78648139)x3	DNAJB4, FUBP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814105	GRCh37/hg19 1p31.1(chr1:78257937-79159519)x3	MIGA1, NEXN +6 more	Copy number gain	not provided	GUncertain significance
Select item 686509	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 686133	GRCh37/hg19 1p31.1(chr1:78186240-81611776)x3	ADGRL4, DNAJB4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 40