"Ambry Genetics"[submitter] AND "DNAJB13"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3084391	NM_153614.4(DNAJB13):c.40A>G (p.Asn14Asp)	DNAJB13 (N14D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2279017	NM_153614.4(DNAJB13):c.94C>T (p.His32Tyr)	DNAJB13 (H32Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2312211	NM_153614.4(DNAJB13):c.180G>T (p.Lys60Asn)	DNAJB13 (K60N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244370	NM_153614.4(DNAJB13):c.188T>A (p.Ile63Asn)	DNAJB13 (I5N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2419266	NM_153614.4(DNAJB13):c.296T>C (p.Val99Ala)	DNAJB13 (V41A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2340131	NM_153614.4(DNAJB13):c.337T>A (p.Phe113Ile)	DNAJB13 (F55I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1969544	NM_153614.4(DNAJB13):c.392G>A (p.Arg131Gln)	DNAJB13 (R73Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1940345	NM_153614.4(DNAJB13):c.572G>A (p.Gly191Asp)	DNAJB13 (G133D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2083646	NM_153614.4(DNAJB13):c.664C>T (p.Arg222Cys)	DNAJB13 (R222C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 34 +2 more	GUncertain significance
Select item 3084392	NM_153614.4(DNAJB13):c.706A>T (p.Ile236Phe)	DNAJB13 (I178F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490058	NM_153614.4(DNAJB13):c.824G>C (p.Gly275Ala)	DNAJB13 (G275A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323142	NM_153614.4(DNAJB13):c.836C>T (p.Pro279Leu)	DNAJB13 (P221L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392128	NM_153614.4(DNAJB13):c.902G>A (p.Arg301His)	DNAJB13 (R243H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084393	NM_153614.4(DNAJB13):c.908C>T (p.Thr303Ile)	DNAJB13 (T245I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance