"PreventionGenetics, part of Exact Sciences"[submitter] AND "DNAJC21"[ - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037808	NM_001012339.3(DNAJC21):c.-7T>G	DNAJC21	Single nucleotide variant (5 prime UTR variant)	DNAJC21-related disorder	GLikely benign
Select item 2094655	NM_001012339.3(DNAJC21):c.50A>T (p.Glu17Val)	DNAJC21, LOC129993792 (E17V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1164684	NM_001012339.3(DNAJC21):c.191+10A>G	DNAJC21	Single nucleotide variant (intron variant)	Bone marrow failure syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 732646	NM_001012339.3(DNAJC21):c.222A>G (p.Lys74=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2093252	NM_001012339.3(DNAJC21):c.316-3dup	DNAJC21	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1548034	NM_001012339.3(DNAJC21):c.337A>T (p.Asn113Tyr)	DNAJC21 (N113Y)	Single nucleotide variant (missense variant)	DNAJC21-related disorder +2 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 +3 more	GConflicting classifications of pathogenicity
Select item 2635017	NM_001012339.3(DNAJC21):c.434A>G (p.Asp145Gly)	DNAJC21 (D145G)	Single nucleotide variant (missense variant)	DNAJC21-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2069195	NM_001012339.3(DNAJC21):c.456C>T (p.Tyr152=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1167946	NM_001012339.3(DNAJC21):c.483A>G (p.Gln161=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2094656	NM_001012339.3(DNAJC21):c.532C>T (p.Arg178Cys)	DNAJC21 (R178C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 783390	NM_001012339.3(DNAJC21):c.656C>T (p.Ala219Val)	DNAJC21 (A219V)	Single nucleotide variant (missense variant)	DNAJC21-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 714249	NM_001012339.3(DNAJC21):c.657G>A (p.Ala219=)	DNAJC21	Single nucleotide variant (synonymous variant)	DNAJC21-related disorder +2 more	GBenign
Select item 721326	NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln)	DNAJC21 (R274Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2631314	NM_001012339.3(DNAJC21):c.895+1G>A	DNAJC21	Single nucleotide variant (splice donor variant)	DNAJC21-related disorder +1 more	GLikely pathogenic
Select item 1158072	NM_001012339.3(DNAJC21):c.966G>A (p.Ser322=)	DNAJC21	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 790400	NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met)	DNAJC21 (V342M)	Single nucleotide variant (missense variant)	DNAJC21-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3061595	NM_001012339.3(DNAJC21):c.1142+9A>G	DNAJC21	Single nucleotide variant (intron variant)	DNAJC21-related disorder	GLikely benign
Select item 2655394	NM_001012339.3(DNAJC21):c.1143-31A>G	DNAJC21 (Y384C)	Single nucleotide variant (missense variant +1 more)	DNAJC21-related disorder +1 more	GLikely benign
Select item 3033920	NM_001012339.3(DNAJC21):c.1186-556G>A	DNAJC21	Single nucleotide variant (synonymous variant +1 more)	DNAJC21-related disorder +1 more	GLikely benign
Select item 738847	NM_001012339.3(DNAJC21):c.1261C>G (p.Gln421Glu)	DNAJC21 (Q434E +2 more)	Single nucleotide variant (missense variant)	DNAJC21-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 728861	NM_001012339.3(DNAJC21):c.1297G>A (p.Glu433Lys)	DNAJC21 (E433K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1005339	NM_001012339.3(DNAJC21):c.1315G>A (p.Glu439Lys)	DNAJC21 (E439K +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3044397	NM_001012339.3(DNAJC21):c.1428A>G (p.Gln476=)	DNAJC21	Single nucleotide variant (synonymous variant)	DNAJC21-related disorder	GLikely benign
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 1168207	NM_001012339.3(DNAJC21):c.1547A>G (p.Asn516Ser)	DNAJC21 (N516S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

ClinVar

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Items: 26