ClinVar for MedGen (Select 338258) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064740	NM_001256715.2(DNAAF3):c.856G>A (p.Gly286Ser)	DNAAF3, DNAAF3-AS1 (G232S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 2	GUncertain significance
Select item 2729173	NM_001256715.2(DNAAF3):c.837G>A (p.Thr279=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2690909	NM_001256715.2(DNAAF3):c.366_430del (p.Val126fs)	DNAAF3-AS1, DNAAF3 (V126fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 2	GLikely pathogenic
Select item 2664320	NM_001256715.2(DNAAF3):c.76C>T (p.Gln26Ter)	DNAAF3, DNAAF3-AS1 (Q26* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 2	GPathogenic
Select item 2440894	NM_001256715.2(DNAAF3):c.1312G>T (p.Gly438Ter)	DNAAF3, DNAAF3-AS1 (G384* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 2	GUncertain significance
Select item 1981698	NM_001256715.2(DNAAF3):c.871G>A (p.Asp291Asn)	DNAAF3, DNAAF3-AS1 (D359N +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1798190	NM_001256715.2(DNAAF3):c.918C>T (p.Ala306=)	DNAAF3, DNAAF3-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 2 +1 more	GLikely benign
Select item 1768171	NM_001256715.2(DNAAF3):c.773G>C (p.Gly258Ala)	DNAAF3, DNAAF3-AS1 (G305A +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 1442743	NM_001256715.2(DNAAF3):c.851C>A (p.Ala284Asp)	DNAAF3, DNAAF3-AS1 (A230D +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1331503	NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer)	DNAAF3, DNAAF3-AS1	Duplication (nonsense)	Primary ciliary dyskinesia 2 +1 more	GPathogenic/Likely pathogenic
Select item 1324264	NM_001256714.1(DNAAF3):c.23C>A (p.Ser8Ter)	DNAAF3, DNAAF3-AS1 (S8*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 2	GLikely pathogenic
Select item 1324262	NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter)	DNAAF3, DNAAF3-AS1 (Q247* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 969929	NM_001256715.2(DNAAF3):c.469C>T (p.Arg157Cys)	DNAAF3, DNAAF3-AS1 (R204C +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 2 +1 more	GUncertain significance
Select item 941083	NM_001256715.2(DNAAF3):c.782T>C (p.Leu261Pro)	DNAAF3, DNAAF3-AS1 (L207P +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 632321	NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs)	DNAAF3 (A596fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 2 +1 more	GUncertain significance
Select item 572342	NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter)	DNAAF3, DNAAF3-AS1 (W185* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 2 +1 more	GPathogenic
Select item 495054	NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)	DNAAF3-AS1, DNAAF3 (F372fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
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 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 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 416074	NM_001256715.2(DNAAF3):c.-5+5G>T	DNAAF3-AS1, DNAAF3 (W44L)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia +1 more	GBenign
Select item 410279	NM_001256715.2(DNAAF3):c.997dup (p.Asp333fs)	DNAAF3, DNAAF3-AS1 +1 more (D380fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia 2 +1 more	GPathogenic
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 369295	NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met)	DNAAF3, TNNI3 (V516M +3 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Recessive +5 more	GBenign/Likely benign
Select item 330214	NM_001256715.2(DNAAF3):c.890C>T (p.Thr297Met)	DNAAF3-AS1, DNAAF3 (T365M +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 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 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 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 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 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 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 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 31534	NM_001256715.2(DNAAF3):c.621dup (p.Val208fs)	DNAAF3, DNAAF3-AS1 (V255fs +3 more)	Duplication (frameshift variant)	Primary ciliary dyskinesia 2	GPathogenic
Select item 31533	NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)	DNAAF3, DNAAF3-AS1 (R136* +3 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 2 +1 more	GPathogenic
Select item 31532	NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro)	DNAAF3, DNAAF3-AS1 (L108P +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 2	GPathogenic

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Items: 36