ClinVar for MedGen (Select 934689) - ClinVar - NCBI

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

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064827	NM_153614.4(DNAJB13):c.493-1G>A	DNAJB13	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 34	GLikely pathogenic
Select item 2083646	NM_153614.4(DNAJB13):c.664C>T (p.Arg222Cys)	DNAJB13 (R222C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1805029	NM_153614.4(DNAJB13):c.92_95delinsGAG (p.His31fs)	DNAJB13 (H31fs)	Indel (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 34	GPathogenic
Select item 1591488	NM_153614.4(DNAJB13):c.272T>G (p.Val91Gly)	DNAJB13 (V33G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 34 +1 more	GLikely benign
Select item 1255518	NM_153614.4(DNAJB13):c.279T>C (p.His93=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 711073	NM_153614.4(DNAJB13):c.374T>G (p.Phe125Cys)	DNAJB13 (F125C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 691974	NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn)	DNAJB13 (D253N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 34 +1 more	GConflicting classifications of pathogenicity
Select item 585050	NM_153614.4(DNAJB13):c.173-1G>A	DNAJB13	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 34	Gnot provided
Select item 253329	NM_153614.4(DNAJB13):c.68+1G>C	DNAJB13	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 34	GPathogenic
Select item 253328	NM_153614.4(DNAJB13):c.833T>G (p.Met278Arg)	DNAJB13 (M278R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 34	GPathogenic