"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DNAAF5"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 241208	NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)	DNAAF5, LOC129997731 +1 more (R184S)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 18 +2 more	GConflicting classifications of pathogenicity
Select item 525340	NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile)	DNAAF5 (V261I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GConflicting classifications of pathogenicity
Select item 525551	NM_017802.4(DNAAF5):c.787C>T (p.Arg263Trp)	DNAAF5 (R263W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 579022	NM_017802.4(DNAAF5):c.802G>A (p.Val268Met)	DNAAF5 (V268M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 651485	NM_017802.4(DNAAF5):c.926G>A (p.Trp309Ter)	DNAAF5 (W309*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 18 +1 more	GPathogenic/Likely pathogenic
Select item 1447086	NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys)	DNAAF5 (R343C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454847	NM_017802.4(DNAAF5):c.1208G>A (p.Arg403Gln)	DNAAF5 (R403Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GUncertain significance
Select item 1390155	NM_017802.4(DNAAF5):c.1246G>A (p.Val416Met)	DNAAF5 (V416M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GUncertain significance
Select item 946929	NM_017802.4(DNAAF5):c.1375G>A (p.Ala459Thr)	DNAAF5 (A459T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 410306	NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His)	DNAAF5 (R496H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 410302	NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)	DNAAF5 (C500F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 576902	NM_017802.4(DNAAF5):c.1586T>A (p.Leu529His)	DNAAF5 (L529H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 416085	NM_017802.4(DNAAF5):c.1626G>A (p.Thr542=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1415748	NM_017802.4(DNAAF5):c.1714G>A (p.Ala572Thr)	DNAAF5 (A572T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GUncertain significance
Select item 525212	NM_017802.4(DNAAF5):c.1715C>T (p.Ala572Val)	DNAAF5 (A572V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GUncertain significance
Select item 525305	NM_017802.4(DNAAF5):c.1856C>T (p.Pro619Leu)	DNAAF5 (P619L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 454857	NM_017802.4(DNAAF5):c.1997C>T (p.Ala666Val)	DNAAF5 (A666V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GUncertain significance
Select item 454858	NM_017802.4(DNAAF5):c.2108_2114delinsCCACCCTGGGT (p.Met703fs)	DNAAF5 (M703fs)	Indel (frameshift variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GPathogenic/Likely pathogenic
Select item 1500969	NM_017802.4(DNAAF5):c.2510C>T (p.Ser837Leu)	DNAAF5 (S837L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GUncertain significance