"GeneDx"[submitter] AND "DNAJC21"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 452422	NM_001012339.3(DNAJC21):c.247G>T (p.Asp83Tyr)	DNAJC21 (D83Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784050	NM_001012339.3(DNAJC21):c.316-8T>G	DNAJC21	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1194636	NM_001012339.3(DNAJC21):c.370G>C (p.Glu124Gln)	DNAJC21 (E124Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 783390	NM_001012339.3(DNAJC21):c.656C>T (p.Ala219Val)	DNAJC21 (A219V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1991405	NM_001012339.3(DNAJC21):c.673G>A (p.Glu225Lys)	DNAJC21 (E225K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308264	NM_001012339.3(DNAJC21):c.848C>T (p.Ser283Leu)	DNAJC21 (S283L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1302511	NM_001012339.3(DNAJC21):c.944A>T (p.Tyr315Phe)	DNAJC21 (Y315F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806556	NM_001012339.3(DNAJC21):c.1155_1156insG (p.Gln386fs)	DNAJC21 (Q386fs +1 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1336969	NM_001012339.3(DNAJC21):c.1186-531G>A	DNAJC21 (E428K)	Single nucleotide variant (missense variant +1 more)	Bone marrow failure syndrome 3 +3 more	GUncertain significance
Select item 1306218	NM_001012339.3(DNAJC21):c.1186-495C>T	DNAJC21 (Q440*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1303476	NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs)	DNAJC21 (K456fs +2 more)	Deletion (frameshift variant)	Shwachman-Diamond syndrome 1 +2 more	GUncertain significance
Select item 452421	NM_001012339.3(DNAJC21):c.1432A>G (p.Met478Val)	DNAJC21 (M523V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306219	NM_001012339.3(DNAJC21):c.1445T>C (p.Ile482Thr)	DNAJC21 (I482T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1302596	NM_001012339.3(DNAJC21):c.1483A>C (p.Asn495His)	DNAJC21 (N495H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1305781	NM_001012339.3(DNAJC21):c.1544T>C (p.Leu515Ser)	DNAJC21 (L515S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic