"DNAAF5-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3003647	NM_017802.4(DNAAF5):c.24G>A (p.Glu8=)	DNAAF5, PRKAR1B	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 454867	NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu)	DNAAF5, PRKAR1B (V129L)	Single nucleotide variant (missense variant +2 more)	DNAAF5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 525483	NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu)	DNAAF5 (Q214E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 241209	NM_017802.4(DNAAF5):c.707A>T (p.His236Leu)	DNAAF5 (H236L)	Single nucleotide variant (missense variant +1 more)	DNAAF5-related disorder +1 more	GBenign/Likely benign
Select item 416083	NM_017802.4(DNAAF5):c.777G>A (p.Pro259=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	DNAAF5-related disorder +1 more	GLikely benign
Select item 525514	NM_017802.4(DNAAF5):c.780+6T>A	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 525340	NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile)	DNAAF5 (V261I)	Single nucleotide variant (missense variant +1 more)	DNAAF5-related disorder +2 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)	DNAAF5-related disorder +2 more	GLikely benign
Select item 1497464	NM_017802.4(DNAAF5):c.800C>T (p.Ser267Phe)	DNAAF5 (S267F)	Single nucleotide variant (missense variant +1 more)	DNAAF5-related disorder +1 more	GUncertain significance
Select item 696227	NM_017802.4(DNAAF5):c.822G>C (p.Leu274=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1130105	NM_017802.4(DNAAF5):c.840C>T (p.Tyr280=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1013954	NM_017802.4(DNAAF5):c.905+4C>T	DNAAF5	Single nucleotide variant (intron variant)	DNAAF5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 698461	NM_017802.4(DNAAF5):c.933C>T (p.Asp311=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	DNAAF5-related disorder +1 more	GLikely benign
Select item 1768772	NM_017802.4(DNAAF5):c.996T>C (p.Pro332=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 3042829	NM_017802.4(DNAAF5):c.1005A>C (p.Pro335=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	DNAAF5-related disorder	GLikely benign
Select item 1962055	NM_017802.4(DNAAF5):c.1018C>G (p.Pro340Ala)	DNAAF5 (P340A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 3047583	NM_017802.4(DNAAF5):c.1122G>A (p.Gly374=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	DNAAF5-related disorder	GLikely benign
Select item 2905335	NM_017802.4(DNAAF5):c.1170C>T (p.Ala390=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 416080	NM_017802.4(DNAAF5):c.1185G>A (p.Thr395=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 3047404	NM_017802.4(DNAAF5):c.1278C>T (p.Leu426=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	DNAAF5-related disorder	GLikely benign
Select item 454851	NM_017802.4(DNAAF5):c.1325C>T (p.Ser442Leu)	DNAAF5 (S442L)	Single nucleotide variant (missense variant +1 more)	DNAAF5-related disorder +1 more	GLikely benign
Select item 1166937	NM_017802.4(DNAAF5):c.1446C>G (p.Ala482=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GBenign/Likely 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 +2 more	GUncertain significance
Select item 2714757	NM_017802.4(DNAAF5):c.1719G>A (p.Ser573=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	DNAAF5-related disorder +1 more	GLikely benign
Select item 416079	NM_017802.4(DNAAF5):c.1812C>T (p.His604=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	DNAAF5-related disorder +1 more	GLikely benign
Select item 3061506	NM_017802.4(DNAAF5):c.2107A>T (p.Met703Leu)	DNAAF5 (M703L)	Single nucleotide variant (missense variant +1 more)	DNAAF5-related disorder	GUncertain significance
Select item 2635405	NM_017802.4(DNAAF5):c.2450del (p.Ser817fs)	DNAAF5 (S817fs)	Deletion (frameshift variant +1 more)	DNAAF5-related disorder	GPathogenic

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Items: 27