"Ambry Genetics"[submitter] AND "DNAJC5"[gene] - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205364	NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 290991	NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205366	NM_025219.3(DNAJC5):c.132C>T (p.Pro44=)	DNAJC5	Single nucleotide variant (synonymous variant)	DNAJC5-related condition +5 more	GBenign/Likely benign
Select item 196527	NM_025219.3(DNAJC5):c.144C>T (p.Pro48=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +5 more	GBenign
Select item 575049	NM_025219.3(DNAJC5):c.161C>T (p.Ala54Val)	DNAJC5 (A54V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 241601	NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1792649	NM_025219.3(DNAJC5):c.252C>G (p.Leu84=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1794034	NM_025219.3(DNAJC5):c.262G>A (p.Glu88Lys)	DNAJC5 (E88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377781	NM_025219.3(DNAJC5):c.282C>T (p.Asn94=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1046215	NM_025219.3(DNAJC5):c.340G>A (p.Gly114Ser)	DNAJC5 (G114S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1739418	NM_025219.3(DNAJC5):c.428G>C (p.Gly143Ala)	DNAJC5 (G143A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 339357	NM_025219.3(DNAJC5):c.438G>A (p.Thr146=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 590040	NM_025219.3(DNAJC5):c.447C>T (p.Tyr149=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 205368	NM_025219.3(DNAJC5):c.456C>T (p.Pro152=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 339359	NM_025219.3(DNAJC5):c.504C>T (p.Asp168=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 588981	NM_025219.3(DNAJC5):c.513C>T (p.Ile171=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 509239	NM_025219.3(DNAJC5):c.531C>T (p.Ser177=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 413345	NM_025219.3(DNAJC5):c.561C>T (p.Asp187=)	DNAJC5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1401106	NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr)	DNAJC5 (H189Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance