"PreventionGenetics, part of Exact Sciences"[submitter] AND "DNAAF3"[g - ClinVar

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Items: 42

	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)	Dilated cardiomyopathy 2A +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)	Nemaline Myopathy, Recessive +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)	Dilated cardiomyopathy 2A +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 2A +9 more	GBenign/Likely benign
Select item 43371	NM_000363.5(TNNI3):c.25-8T>A	DNAAF3, TNNI3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2A +9 more	GBenign/Likely benign
Select item 137687	NM_000363.5(TNNI3):c.-35C>A	DNAAF3, TNNI3	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy 7 +8 more	GBenign/Likely benign
Select item 454620	NM_001256715.2(DNAAF3):c.1626A>G (p.Ter542Trp)	DNAAF3	Single nucleotide variant (stop lost)	Primary ciliary dyskinesia 2 +2 more	GUncertain significance
Select item 330207	NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)	DNAAF3 (P577L +3 more)	Single nucleotide variant (missense variant)	DNAAF3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 257685	NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)	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 257684	NM_001256715.2(DNAAF3):c.1239-8A>G	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 2 +7 more	GBenign/Likely benign
Select item 257682	NM_001256715.2(DNAAF3):c.1164-14C>T	DNAAF3-AS1, DNAAF3 +1 more	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 257683	NM_001256715.2(DNAAF3):c.1164-15C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 238683	NM_001256715.2(DNAAF3):c.1163+10G>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	DNAAF3-related disorder +2 more	GBenign/Likely benign
Select item 1646619	NM_001256715.2(DNAAF3):c.1124G>A (p.Cys375Tyr)	DNAAF3-AS1, DNAAF3 (C321Y +3 more)	Single nucleotide variant (missense variant)	DNAAF3-related disorder +1 more	GBenign/Likely benign
Select item 1595659	NM_001256715.2(DNAAF3):c.1089G>A (p.Pro363=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	DNAAF3-related disorder +1 more	GLikely benign
Select item 257681	NM_001256715.2(DNAAF3):c.1056G>C (p.Pro352=)	DNAAF3-AS1, DNAAF3	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 257680	NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 2 +7 more	GBenign/Likely benign
Select item 454613	NM_001256715.2(DNAAF3):c.1041_1048+1del	DNAAF3, DNAAF3-AS1 +1 more	Deletion (splice donor variant)	Primary ciliary dyskinesia 2 +2 more	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 provided +6 more	GBenign/Likely benign
Select item 454612	NM_001256715.2(DNAAF3):c.989C>T (p.Thr330Ile)	DNAAF3, DNAAF3-AS1 +1 more (T398I +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 2 +2 more	GBenign/Likely benign
Select item 257678	NM_001256715.2(DNAAF3):c.913-8A>G	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 257677	NM_001256715.2(DNAAF3):c.913-13C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 454611	NM_001256715.2(DNAAF3):c.900C>T (p.Gly300=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	DNAAF3-related disorder +1 more	GLikely benign
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)	not provided +7 more	GBenign/Likely benign
Select item 330215	NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)	DNAAF3, DNAAF3-AS1 (A325T +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +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)	Primary ciliary dyskinesia 2 +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)	Primary ciliary dyskinesia 2 +7 more	GBenign/Likely benign
Select item 257693	NM_001256715.2(DNAAF3):c.664-9C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 257692	NM_001256715.2(DNAAF3):c.612C>T (p.Ala204=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely 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)	not specified +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 provided +6 more	GBenign/Likely benign
Select item 1002599	NM_001256715.2(DNAAF3):c.480+5C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	DNAAF3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 948297	NM_001256715.2(DNAAF3):c.391C>T (p.Arg131Cys)	DNAAF3, DNAAF3-AS1 (R178C +3 more)	Single nucleotide variant (missense variant)	DNAAF3-related disorder +1 more	GUncertain significance
Select item 790960	NM_001256715.2(DNAAF3):c.354G>A (p.Gly118=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 257688	NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)	DNAAF3-AS1, TNNI3 +1 more	Single nucleotide variant (synonymous variant)	Dilated Cardiomyopathy, Recessive +6 more	GBenign/Likely benign
Select item 257687	NM_001256715.2(DNAAF3):c.323-4del	DNAAF3, DNAAF3-AS1	Deletion (intron variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 257686	NM_001256715.2(DNAAF3):c.323-17T>G	DNAAF3, DNAAF3-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 700064	NM_001256715.2(DNAAF3):c.86-68dup	DNAAF3, DNAAF3-AS1	Duplication (intron variant)	DNAAF3-related disorder +1 more	GLikely benign
Select item 238684	NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 416069	NM_001256715.2(DNAAF3):c.-4G>A	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant +1 more)	DNAAF3-related disorder +1 more	GBenign/Likely benign
Select item 257690	NM_001256715.2(DNAAF3):c.-59C>T	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign

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Items: 42