"Invitae"[submitter] AND "LOC130065090"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 648531	NC_000019.9:g.(?_55644273)_(55768277_?)dup	DNAAF3, DNAAF3-AS1 +18 more	Duplication	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 584384	NC_000019.9:g.(?_55670410)_(55678036_?)dup	DNAAF3-AS1, LOC130065090 +1 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 2848964	NM_001256715.2(DNAAF3):c.1044_1048+13del	DNAAF3, DNAAF3-AS1 +1 more	Deletion (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 454613	NM_001256715.2(DNAAF3):c.1041_1048+1del	DNAAF3, DNAAF3-AS1 +1 more	Deletion (splice donor variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1924992	NM_001256715.2(DNAAF3):c.1036C>T (p.Pro346Ser)	DNAAF3, DNAAF3-AS1 +1 more (P393S +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1973890	NM_001256715.2(DNAAF3):c.1032G>A (p.Pro344=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2862030	NM_001256715.2(DNAAF3):c.1031C>G (p.Pro344Arg)	DNAAF3, DNAAF3-AS1 +1 more (P344R +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 572205	NM_001256715.2(DNAAF3):c.1017C>A (p.His339Gln)	DNAAF3, DNAAF3-AS1 +1 more (H386Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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)	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome +6 more	GBenign/Likely benign
Select item 2698489	NM_001256715.2(DNAAF3):c.999C>T (p.Asp333=)	DNAAF3, DNAAF3-AS1 +1 more	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 +1 more	GPathogenic
Select item 861420	NM_001256715.2(DNAAF3):c.997G>T (p.Asp333Tyr)	DNAAF3, DNAAF3-AS1 +1 more (D380Y +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 454612	NM_001256715.2(DNAAF3):c.989C>T (p.Thr330Ile)	DNAAF3, DNAAF3-AS1 +1 more (T398I +3 more)	Single nucleotide variant (missense variant)	DNAAF3-related condition +2 more	GBenign/Likely benign
Select item 1745211	NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)	DNAAF3, DNAAF3-AS1 +1 more (T377A +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 935186	NM_001256715.2(DNAAF3):c.969del (p.Trp324fs)	DNAAF3, DNAAF3-AS1 +1 more (W324fs +3 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 1501543	NM_001256715.2(DNAAF3):c.960C>G (p.Asp320Glu)	DNAAF3, DNAAF3-AS1 +1 more (D388E +3 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance