DNAAF5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2958149	NM_017802.4(DNAAF5):c.596-19G>A	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 260936	NM_017802.4(DNAAF5):c.596-17G>A	DNAAF5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2795896	NM_017802.4(DNAAF5):c.596-11C>G	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2027666	NM_017802.4(DNAAF5):c.596-5C>T	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 838731	NM_017802.4(DNAAF5):c.607A>G (p.Met203Val)	DNAAF5 (M203V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1468185	NM_017802.4(DNAAF5):c.614C>T (p.Ser205Leu)	DNAAF5 (S205L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2148485	NM_017802.4(DNAAF5):c.615G>A (p.Ser205=)	DNAAF5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2758985	NM_017802.4(DNAAF5):c.618G>A (p.Glu206=)	DNAAF5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1752161	NM_017802.4(DNAAF5):c.619T>C (p.Ser207Pro)	DNAAF5 (S207P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 260937	NM_017802.4(DNAAF5):c.622C>T (p.Leu208=)	DNAAF5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 661778	NM_017802.4(DNAAF5):c.623T>C (p.Leu208Pro)	DNAAF5 (L208P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2719332	NM_017802.4(DNAAF5):c.627C>T (p.Ile209=)	DNAAF5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2710059	NM_017802.4(DNAAF5):c.627C>A (p.Ile209=)	DNAAF5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1752649	NM_017802.4(DNAAF5):c.628G>A (p.Gly210Arg)	DNAAF5 (G210R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2910030	NM_017802.4(DNAAF5):c.630G>T (p.Gly210=)	DNAAF5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	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 410298	NM_017802.4(DNAAF5):c.641A>G (p.Gln214Arg)	DNAAF5 (Q214R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 943860	NM_017802.4(DNAAF5):c.642G>T (p.Gln214His)	DNAAF5 (Q214H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2114361	NM_017802.4(DNAAF5):c.643A>T (p.Thr215Ser)	DNAAF5 (T215S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 935288	NM_017802.4(DNAAF5):c.650C>A (p.Ser217Tyr)	DNAAF5 (S217Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525316	NM_017802.4(DNAAF5):c.671G>A (p.Arg224His)	DNAAF5 (R224H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3227047	NM_017802.4(DNAAF5):c.673G>A (p.Val225Met)	DNAAF5 (V225M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525397	NM_017802.4(DNAAF5):c.676G>C (p.Ala226Pro)	DNAAF5 (A226P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525465	NM_017802.4(DNAAF5):c.678C>T (p.Ala226=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1210277	NM_017802.4(DNAAF5):c.694G>A (p.Gly232Ser)	DNAAF5 (G232S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2740883	NM_017802.4(DNAAF5):c.696C>T (p.Gly232=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 410304	NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr)	DNAAF5 (A233T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 410300	NM_017802.4(DNAAF5):c.697G>T (p.Ala233Ser)	DNAAF5 (A233S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1637336	NM_017802.4(DNAAF5):c.699A>G (p.Ala233=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2857008	NM_017802.4(DNAAF5):c.707_717del (p.His236fs)	DNAAF5 (H236fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 241209	NM_017802.4(DNAAF5):c.707A>T (p.His236Leu)	DNAAF5 (H236L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 241210	NM_017802.4(DNAAF5):c.711T>C (p.Phe237=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 454868	NM_017802.4(DNAAF5):c.717C>T (p.Asn239=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 1394300	NM_017802.4(DNAAF5):c.718G>A (p.Gly240Arg)	DNAAF5 (G240R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2719326	NM_017802.4(DNAAF5):c.726C>G (p.Ser242=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 698814	NM_017802.4(DNAAF5):c.732C>T (p.Asp244=)	DNAAF5	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1758402	NM_017802.4(DNAAF5):c.733G>A (p.Asp245Asn)	DNAAF5 (D245N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1628148	NM_017802.4(DNAAF5):c.735C>T (p.Asp245=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2006945	NM_017802.4(DNAAF5):c.743C>A (p.Ser248Tyr)	DNAAF5 (S248Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1433639	NM_017802.4(DNAAF5):c.745del (p.His249fs)	DNAAF5 (H249fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 580336	NM_017802.4(DNAAF5):c.745C>T (p.His249Tyr)	DNAAF5 (H249Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1914650	NM_017802.4(DNAAF5):c.757C>T (p.Arg253Ter)	DNAAF5 (R253*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
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 2728813	NM_017802.4(DNAAF5):c.763_766del (p.Phe255fs)	DNAAF5 (F255fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 3002880	NM_017802.4(DNAAF5):c.771C>T (p.Asp257=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1760350	NM_017802.4(DNAAF5):c.772G>A (p.Val258Ile)	DNAAF5 (V258I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2543323	NM_017802.4(DNAAF5):c.776C>T (p.Pro259Leu)	DNAAF5 (P259L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2159368	NM_017802.4(DNAAF5):c.777G>T (p.Pro259=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 416083	NM_017802.4(DNAAF5):c.777G>A (p.Pro259=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 525514	NM_017802.4(DNAAF5):c.780+6T>A	DNAAF5	Single nucleotide variant (intron variant)	DNAAF5-related disorder +1 more	GUncertain significance
Select item 2954877	NM_017802.4(DNAAF5):c.780+10G>T	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2954878	NM_017802.4(DNAAF5):c.780+14C>T	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 798331	NM_017802.4(DNAAF5):c.781-9C>T	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 798147	NM_017802.4(DNAAF5):c.781-8A>G	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2081318	NM_017802.4(DNAAF5):c.781-5del	DNAAF5	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 725752	NM_017802.4(DNAAF5):c.781-5C>T	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2739665	NM_017802.4(DNAAF5):c.781-4G>A	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 18 +1 more	GLikely benign
Select item 964729	NM_017802.4(DNAAF5):c.788G>T (p.Arg263Leu)	DNAAF5 (R263L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	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 2705664	NM_017802.4(DNAAF5):c.792G>T (p.Ala264=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1761275	NM_017802.4(DNAAF5):c.792G>A (p.Ala264=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	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 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 1963322	NM_017802.4(DNAAF5):c.804G>A (p.Val268=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2696697	NM_017802.4(DNAAF5):c.805G>A (p.Val269Met)	DNAAF5 (V269M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2544536	NM_017802.4(DNAAF5):c.808G>T (p.Gly270Cys)	DNAAF5 (G270C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1943301	NM_017802.4(DNAAF5):c.810_822del (p.Gly271fs)	DNAAF5 (G271fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2814803	NM_017802.4(DNAAF5):c.810C>T (p.Gly270=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 649297	NM_017802.4(DNAAF5):c.811G>A (p.Gly271Ser)	DNAAF5 (G271S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1613687	NM_017802.4(DNAAF5):c.819G>A (p.Leu273=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 696227	NM_017802.4(DNAAF5):c.822G>C (p.Leu274=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2047224	NM_017802.4(DNAAF5):c.827T>G (p.Leu276Arg)	DNAAF5 (L276R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083365	NM_017802.4(DNAAF5):c.829C>T (p.Arg277Cys)	DNAAF5 (R277C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525442	NM_017802.4(DNAAF5):c.830G>A (p.Arg277His)	DNAAF5 (R277H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 643736	NM_017802.4(DNAAF5):c.832G>A (p.Asp278Asn)	DNAAF5 (D278N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 410305	NM_017802.4(DNAAF5):c.836G>A (p.Arg279His)	DNAAF5 (R279H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1763211	NM_017802.4(DNAAF5):c.839A>T (p.Tyr280Phe)	DNAAF5 (Y280F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 2908564	NM_017802.4(DNAAF5):c.865C>T (p.Leu289=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2161177	NM_017802.4(DNAAF5):c.879C>A (p.Ser293Arg)	DNAAF5 (S293R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2873786	NM_017802.4(DNAAF5):c.882C>A (p.Leu294=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 454870	NM_017802.4(DNAAF5):c.884A>G (p.Asn295Ser)	DNAAF5 (N295S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2916589	NM_017802.4(DNAAF5):c.885C>T (p.Asn295=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 454871	NM_017802.4(DNAAF5):c.888C>T (p.Asp296=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
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 834253	NM_017802.4(DNAAF5):c.892G>T (p.Val298Leu)	DNAAF5 (V298L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1765351	NM_017802.4(DNAAF5):c.898G>A (p.Glu300Lys)	DNAAF5 (E300K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1105018	NM_017802.4(DNAAF5):c.903C>G (p.Val301=)	DNAAF5	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1013954	NM_017802.4(DNAAF5):c.905+4C>T	DNAAF5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance

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