"Ambry Genetics"[submitter] AND "DNAJB2"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1753902	NM_006736.6(DNAJB2):c.64G>C (p.Ala22Pro)	DNAJB2 (A22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377779	NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)	DNAJB2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GLikely benign
Select item 578733	NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn)	DNAJB2 (D66N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 576704	NM_006736.6(DNAJB2):c.197_205del (p.Asp66_Tyr68del)	DNAJB2	Deletion (inframe_deletion)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more	GUncertain significance
Select item 665770	NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser)	DNAJB2 (R67S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 841184	NM_006736.6(DNAJB2):c.208C>T (p.Arg70Trp)	DNAJB2 (R70W)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more	GUncertain significance
Select item 1789094	NM_006736.6(DNAJB2):c.229+2T>A	DNAJB2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 234675	NM_006736.6(DNAJB2):c.230-2A>G	DNAJB2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 540533	NM_006736.6(DNAJB2):c.249A>G (p.Ala83=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +2 more	GLikely benign
Select item 1796688	NM_006736.6(DNAJB2):c.283A>G (p.Thr95Ala)	DNAJB2 (T95A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 473302	NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys)	DNAJB2 (E100K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2478990	NM_006736.6(DNAJB2):c.326G>T (p.Ser109Ile)	DNAJB2 (S109I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 217886	NM_006736.6(DNAJB2):c.352+1G>A	DNAJB2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 1732377	NM_006736.6(DNAJB2):c.353-24_357del	DNAJB2	Deletion (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 1735983	NM_006736.6(DNAJB2):c.389G>C (p.Gly130Ala)	DNAJB2 (G130A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 948188	NM_006736.6(DNAJB2):c.454T>C (p.Ser152Pro)	DNAJB2 (S152P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1491622	NM_006736.6(DNAJB2):c.455C>G (p.Ser152Cys)	DNAJB2 (S152C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 234683	NM_006736.6(DNAJB2):c.473G>T (p.Ser158Ile)	DNAJB2 (S158I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1383465	NM_006736.6(DNAJB2):c.533G>A (p.Arg178His)	DNAJB2 (R178H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2264542	NM_006736.6(DNAJB2):c.554T>C (p.Met185Thr)	DNAJB2 (M185T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 473304	NM_006736.6(DNAJB2):c.571C>T (p.Arg191Trp)	DNAJB2 (R191W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1752682	NM_006736.6(DNAJB2):c.629A>G (p.Asp210Gly)	DNAJB2 (D210G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753887	NM_006736.6(DNAJB2):c.649G>C (p.Glu217Gln)	DNAJB2 (E217Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754566	NM_006736.6(DNAJB2):c.662G>A (p.Arg221His)	DNAJB2 (R221H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1755031	NM_006736.6(DNAJB2):c.670C>G (p.Gln224Glu)	DNAJB2 (Q224E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1755075	NM_006736.6(DNAJB2):c.671A>C (p.Gln224Pro)	DNAJB2 (Q224P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 647696	NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu)	DNAJB2 (P225L)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +2 more	GUncertain significance
Select item 439620	NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu)	DNAJB2 (Q235E)	Single nucleotide variant (missense variant)	DNAJB2-related condition +5 more	GLikely benign
Select item 508517	NM_006736.6(DNAJB2):c.717C>A (p.Thr239=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +2 more	GLikely benign
Select item 645330	NM_006736.6(DNAJB2):c.754G>C (p.Asp252His)	DNAJB2 (D252H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 391179	NM_006736.6(DNAJB2):c.759G>A (p.Glu253=)	DNAJB2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 377780	NM_006736.6(DNAJB2):c.787C>T (p.Leu263=)	DNAJB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 1762605	NM_006736.6(DNAJB2):c.*995C>T	DNAJB2	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 33