"GeneDx"[submitter] AND "DNAAF5"[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 152911	GRCh38/hg38 7p22.3(chr7:689554-854872)x3	DNAAF5, LOC123924885 +15 more	Copy number gain	See cases	GUncertain significance
Select item 1223598	NC_000007.14:g.726379T>C	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222541	NC_000007.14:g.726531A>C	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183607	NC_000007.14:g.726579_726580insGATAC	DNAAF5, PRKAR1B	Insertion (intron variant)	not provided	GBenign
Select item 1244670	NC_000007.14:g.726583A>G	DNAAF5, PRKAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3375880	NM_017802.4(DNAAF5):c.-1G>A	DNAAF5, PRKAR1B	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 260938	NM_017802.4(DNAAF5):c.72G>A (p.Ala24=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 3359268	NM_017802.4(DNAAF5):c.553_572del (p.Glu185fs)	DNAAF5, LOC129997731 +1 more (E185fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1248413	NM_017802.4(DNAAF5):c.595+30C>A	DNAAF5, LOC129997732 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197785	NM_017802.4(DNAAF5):c.595+116C>T	LOC129997732, PRKAR1B +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238458	NM_017802.4(DNAAF5):c.596-116A>G	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291533	NM_017802.4(DNAAF5):c.596-108A>G	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283346	NM_017802.4(DNAAF5):c.596-104G>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192922	NM_017802.4(DNAAF5):c.780+167A>G	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272167	NM_017802.4(DNAAF5):c.781-336C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190953	NM_017802.4(DNAAF5):c.781-301A>G	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212552	NM_017802.4(DNAAF5):c.781-160G>C	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266471	NM_017802.4(DNAAF5):c.781-88G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252285	NM_017802.4(DNAAF5):c.781-33A>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178907	NM_017802.4(DNAAF5):c.905+48G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1196623	NM_017802.4(DNAAF5):c.905+121G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185528	NM_017802.4(DNAAF5):c.906-125T>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260939	NM_017802.4(DNAAF5):c.906-4T>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +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 1241154	NM_017802.4(DNAAF5):c.1024+310G>C	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282735	NM_017802.4(DNAAF5):c.1025-272G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282699	NM_017802.4(DNAAF5):c.1025-134C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 454845	NM_017802.4(DNAAF5):c.1063A>G (p.Arg355Gly)	DNAAF5 (R355G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 260922	NM_017802.4(DNAAF5):c.1257+13A>G	DNAAF5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1250941	NM_017802.4(DNAAF5):c.1257+118C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183343	NM_017802.4(DNAAF5):c.1257+170C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230075	NM_017802.4(DNAAF5):c.1258-160C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198612	NM_017802.4(DNAAF5):c.1258-66G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260925	NM_017802.4(DNAAF5):c.1269C>T (p.Ser423=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1197598	NM_017802.4(DNAAF5):c.1470+63A>G	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194179	NM_017802.4(DNAAF5):c.1470+168C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236575	NM_017802.4(DNAAF5):c.1470+248G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287060	NM_017802.4(DNAAF5):c.1470+252C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284200	NM_017802.4(DNAAF5):c.1470+274C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245706	NM_017802.4(DNAAF5):c.1471-179C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1331284	NM_017802.4(DNAAF5):c.1471-12G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 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 410296	NM_017802.4(DNAAF5):c.1582G>T (p.Ala528Ser)	DNAAF5 (A528S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1290796	NM_017802.4(DNAAF5):c.1614+259C>G	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283361	NM_017802.4(DNAAF5):c.1614+322T>G	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235106	NM_017802.4(DNAAF5):c.1615-199C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	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 2571944	NM_017802.4(DNAAF5):c.1643T>C (p.Met548Thr)	DNAAF5 (M548T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1191315	NM_017802.4(DNAAF5):c.1783+85C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210971	NM_017802.4(DNAAF5):c.1784-283G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203186	NM_017802.4(DNAAF5):c.1784-258A>G	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232061	NM_017802.4(DNAAF5):c.1784-188T>C	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274328	NM_017802.4(DNAAF5):c.1784-54G>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281412	NM_017802.4(DNAAF5):c.1784-53C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265480	NM_017802.4(DNAAF5):c.1784-44G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663632	NM_017802.4(DNAAF5):c.1810C>T (p.His604Tyr)	DNAAF5 (H604Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 658136	NM_017802.4(DNAAF5):c.1816G>A (p.Val606Met)	DNAAF5 (V606M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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 1266386	NM_017802.4(DNAAF5):c.1931+214C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274089	NM_017802.4(DNAAF5):c.1931+251T>C	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223747	NM_017802.4(DNAAF5):c.1932-307C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185316	NM_017802.4(DNAAF5):c.1932-67T>C	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 1181231	NM_017802.4(DNAAF5):c.2082+32C>G	DNAAF5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1207868	NM_017802.4(DNAAF5):c.2082+236C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263172	NM_017802.4(DNAAF5):c.2083-214G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	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 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 1200199	NM_017802.4(DNAAF5):c.2239+144C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274248	NM_017802.4(DNAAF5):c.2240-113T>C	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 1208328	NM_017802.4(DNAAF5):c.2431+262G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215822	NM_017802.4(DNAAF5):c.2432-316C>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186294	NM_017802.4(DNAAF5):c.2432-258_2432-182del	DNAAF5	Deletion (intron variant)	not provided	GLikely benign
Select item 1189073	NM_017802.4(DNAAF5):c.2432-227G>T	DNAAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239883	NM_017802.4(DNAAF5):c.2432-155G>A	DNAAF5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233995	NM_017802.4(DNAAF5):c.2432-149T>C	DNAAF5	Single nucleotide variant (intron variant)	not provided	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 454861	NM_017802.4(DNAAF5):c.2472G>A (p.Leu824=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2412839	NM_017802.4(DNAAF5):c.2565G>T (p.Gln855His)	DNAAF5 (Q855H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1274377	NM_017802.4(DNAAF5):c.*204G>A	DNAAF5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 86