"Illumina Laboratory Services, Illumina"[submitter] AND "DNAAF3"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43391	NM_000363.5(TNNI3):c.537G>A (p.Glu179=)	DNAAF3, TNNI3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 36881	NM_000363.5(TNNI3):c.373-10=	DNAAF3, TNNI3 +1 more	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43366	NM_000363.5(TNNI3):c.204G>T (p.Arg68=)	DNAAF3, TNNI3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 43362	NM_000363.5(TNNI3):c.150+13G>A	DNAAF3, TNNI3	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive +9 more	GBenign/Likely benign
Select item 43371	NM_000363.5(TNNI3):c.25-8T>A	DNAAF3, TNNI3	Single nucleotide variant (intron variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +9 more	GBenign/Likely benign
Select item 137687	NM_000363.5(TNNI3):c.-35C>A	DNAAF3, TNNI3	Single nucleotide variant (5 prime UTR variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +8 more	GBenign/Likely benign
Select item 330205	NM_001256715.2(DNAAF3):c.*28A>C	DNAAF3	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 632321	NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs)	DNAAF3 (A596fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 369295	NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met)	DNAAF3, TNNI3 (V516M +3 more)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy +5 more	GBenign/Likely benign
Select item 257685	NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 257684	NM_001256715.2(DNAAF3):c.1239-8A>G	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Recessive +7 more	GBenign/Likely benign
Select item 257682	NM_001256715.2(DNAAF3):c.1164-14C>T	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +6 more	GBenign/Likely benign
Select item 369296	NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (no sequence alteration)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +5 more	GBenign/Likely benign
Select item 257680	NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 330211	NM_001256715.2(DNAAF3):c.1049-1G>A	DNAAF3-AS1, DNAAF3	Single nucleotide variant (splice acceptor variant +1 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 257679	NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)	DNAAF3, DNAAF3-AS1 +2 more (L381P +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 894093	NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=)	DNAAF3, DNAAF3-AS1 +2 more	Single nucleotide variant (synonymous variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +4 more	GConflicting classifications of pathogenicity
Select item 257676	NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)	DNAAF3, DNAAF3-AS1 +1 more (E339G +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 330215	NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)	DNAAF3-AS1, DNAAF3 (A325T +3 more)	Single nucleotide variant (missense variant)	DNAAF3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 257695	NM_001256715.2(DNAAF3):c.790-14C>T	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +7 more	GBenign/Likely benign
Select item 257694	NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 330217	NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +6 more	GConflicting classifications of pathogenicity
Select item 257691	NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)	DNAAF3, DNAAF3-AS1 +1 more (G224S +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 257689	NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 894094	NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser)	DNAAF3, DNAAF3-AS1 +1 more (R108S +3 more)	Single nucleotide variant (missense variant)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +4 more	GUncertain significance
Select item 257688	NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)	DNAAF3-AS1, DNAAF3 +1 more	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign

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Items: 26