ClinVar for MedGen (Select 762331) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242170	NM_017802.4(DNAAF5):c.991_992insGG (p.Ala331fs)	DNAAF5 (A331fs)	Insertion (frameshift variant +1 more)	Primary ciliary dyskinesia 18	GLikely pathogenic
Select item 2440897	NM_017802.4(DNAAF5):c.1234G>A (p.Glu412Lys)	DNAAF5 (E412K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2440896	NM_017802.4(DNAAF5):c.2201del (p.Gly734fs)	DNAAF5 (G734fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 18	GUncertain significance
Select item 1787401	NM_017802.4(DNAAF5):c.218G>C (p.Trp73Ser)	PRKAR1B, DNAAF5 +1 more (W73S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1698879	NM_017802.4(DNAAF5):c.889G>A (p.Glu297Lys)	DNAAF5 (E297K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GUncertain significance
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
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 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 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 1185528	NM_017802.4(DNAAF5):c.906-125T>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185527	NM_017802.4(DNAAF5):c.905+107T>C	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 18 +1 more	GBenign
Select item 1185320	NM_017802.4(DNAAF5):c.*139A>G	DNAAF5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1185319	NM_017802.4(DNAAF5):c.2432-40T>C	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185318	NM_017802.4(DNAAF5):c.2083-31G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185317	NM_017802.4(DNAAF5):c.1932-35G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185316	NM_017802.4(DNAAF5):c.1932-67T>C	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185315	NM_017802.4(DNAAF5):c.1784-1298C>G	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 18	GBenign
Select item 1185314	NM_017802.4(DNAAF5):c.1615-101G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185313	NM_006651.4(CPLX1):c.32-112A>G	CPLX1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1181231	NM_017802.4(DNAAF5):c.2082+32C>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1040343	NM_017802.4(DNAAF5):c.2251C>T (p.Arg751Cys)	DNAAF5 (R751C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	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 689528	NM_017802.4(DNAAF5):c.55dup (p.Ala19fs)	DNAAF5, PRKAR1B (A19fs)	Duplication (frameshift variant +2 more)	Primary ciliary dyskinesia 18	GPathogenic
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 581791	NM_017802.4(DNAAF5):c.758G>A (p.Arg253Gln)	DNAAF5 (R253Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +1 more	GUncertain significance
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 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 573238	NM_017802.4(DNAAF5):c.1470+1G>A	DNAAF5	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia +1 more	GLikely pathogenic
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 525483	NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu)	DNAAF5 (Q214E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 525341	NM_017802.4(DNAAF5):c.1679G>A (p.Arg560His)	DNAAF5 (R560H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +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)	Primary ciliary dyskinesia 18 +1 more	GConflicting classifications of pathogenicity
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 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 454869	NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln)	DNAAF5 (R263Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 410295	NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met)	DNAAF5 (T675M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 260939	NM_017802.4(DNAAF5):c.906-4T>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 260932	NM_017802.4(DNAAF5):c.2228G>A (p.Arg743Lys)	DNAAF5 (R743K)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 260931	NM_017802.4(DNAAF5):c.1931+8C>T	DNAAF5	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 260930	NM_017802.4(DNAAF5):c.1895T>C (p.Val632Ala)	DNAAF5 (V632A)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 260922	NM_017802.4(DNAAF5):c.1257+13A>G	DNAAF5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 241211	NM_017802.4(DNAAF5):c.921C>A (p.Ser307Arg)	DNAAF5 (S307R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 18 +3 more	GBenign/Likely benign
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 241201	NM_017802.4(DNAAF5):c.2082+8del	DNAAF5	Deletion (intron variant)	Primary ciliary dyskinesia 18 +2 more	GBenign/Likely benign
Select item 39684	NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro)	DNAAF5 (L795P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 51