20188[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 313245	NM_002408.4(MGAT2):c.-351G>T	DNAAF2, MGAT2	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 313249	NM_002408.4(MGAT2):c.-234T>C	DNAAF2, MGAT2	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 313255	NM_002408.4(MGAT2):c.261G>T (p.Leu87=)	DNAAF2, MGAT2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +4 more	GBenign/Likely benign
Select item 313270	NM_018139.3(DNAAF2):c.*328A>T	DNAAF2, MGAT2	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 313271	NM_018139.3(DNAAF2):c.290_294del	DNAAF2	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 884149	NM_018139.3(DNAAF2):c.*213A>G	DNAAF2	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 10	GUncertain significance
Select item 313272	NM_018139.3(DNAAF2):c.*191A>G	DNAAF2	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 10	GUncertain significance
Select item 1282890	NM_018139.3(DNAAF2):c.*182dup	DNAAF2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 313273	NM_018139.3(DNAAF2):c.*182del	DNAAF2	Deletion (3 prime UTR variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 884150	NM_018139.3(DNAAF2):c.*157A>G	DNAAF2	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 10	GUncertain significance
Select item 313274	NM_018139.3(DNAAF2):c.*126T>A	DNAAF2, MGAT2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 1792434	NM_018139.3(DNAAF2):c.2514A>G (p.Ter838=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1150110	NM_018139.3(DNAAF2):c.2505T>C (p.Asp835=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1895757	NM_018139.3(DNAAF2):c.2503G>T (p.Asp835Tyr)	DNAAF2 (D835Y +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2899113	NM_018139.3(DNAAF2):c.2499A>G (p.Leu833=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1589402	NM_018139.3(DNAAF2):c.2490T>C (p.Asn830=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2132829	NM_018139.3(DNAAF2):c.2489del (p.Asn830fs)	DNAAF2 (N93fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1150694	NM_018139.3(DNAAF2):c.2475A>G (p.Ala825=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1560719	NM_018139.3(DNAAF2):c.2460T>C (p.His820=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 844675	NM_018139.3(DNAAF2):c.2449A>G (p.Ile817Val)	DNAAF2 (I817V +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2150489	NM_018139.3(DNAAF2):c.2446G>A (p.Val816Ile)	DNAAF2 (V816I +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454906	NM_018139.3(DNAAF2):c.2440G>T (p.Val814Leu)	DNAAF2 (V814L +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 579614	NM_018139.3(DNAAF2):c.2429A>G (p.Gln810Arg)	DNAAF2 (Q810R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 803024	NM_018139.3(DNAAF2):c.2428C>T (p.Gln810Ter)	DNAAF2 (Q762* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 10 +1 more	GConflicting classifications of pathogenicity
Select item 1959072	NM_018139.3(DNAAF2):c.2426T>G (p.Met809Arg)	DNAAF2 (M761R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083331	NM_018139.3(DNAAF2):c.2423A>G (p.Asn808Ser)	DNAAF2 (N71S +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1791023	NM_018139.3(DNAAF2):c.2421C>G (p.Thr807=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1502916	NM_018139.3(DNAAF2):c.2416G>T (p.Glu806Ter)	DNAAF2 (E69* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GUncertain significance
Select item 416621	NM_018139.3(DNAAF2):c.2415A>G (p.Lys805=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1790776	NM_018139.3(DNAAF2):c.2404G>A (p.Asp802Asn)	DNAAF2 (D802N +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1038111	NM_018139.3(DNAAF2):c.2393T>C (p.Ile798Thr)	DNAAF2 (I750T +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 313275	NM_018139.3(DNAAF2):c.2388C>T (p.His796=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 313276	NM_018139.3(DNAAF2):c.2381C>T (p.Thr794Met)	DNAAF2 (T794M +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1790434	NM_018139.3(DNAAF2):c.2380A>G (p.Thr794Ala)	DNAAF2 (T57A +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2981230	NM_018139.3(DNAAF2):c.2373C>T (p.Asn791=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1790191	NM_018139.3(DNAAF2):c.2364A>G (p.Ser788=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3083330	NM_018139.3(DNAAF2):c.2353C>A (p.His785Asn)	DNAAF2 (H48N +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2159775	NM_018139.3(DNAAF2):c.2338G>A (p.Glu780Lys)	DNAAF2 (E732K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 566666	NM_018139.3(DNAAF2):c.2338G>C (p.Glu780Gln)	DNAAF2 (E780Q +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 699227	NM_018139.3(DNAAF2):c.2331A>G (p.Glu777=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 572820	NM_018139.3(DNAAF2):c.2324T>A (p.Ile775Lys)	DNAAF2 (I775K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 944119	NM_018139.3(DNAAF2):c.2314G>A (p.Glu772Lys)	DNAAF2 (E35K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 747396	NM_018139.3(DNAAF2):c.2313C>T (p.Asn771=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2078806	NM_018139.3(DNAAF2):c.2307_2311del (p.Asn769fs)	DNAAF2 (N32fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3272519	NM_018139.3(DNAAF2):c.2305A>G (p.Asn769Asp)	DNAAF2 (N32D +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 163091	NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)	DNAAF2, MGAT2 (D768G +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 697079	NM_018139.3(DNAAF2):c.2281A>G (p.Thr761Ala)	DNAAF2 (T713A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2188864	NM_018139.3(DNAAF2):c.2269G>T (p.Glu757Ter)	DNAAF2 (E709* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GUncertain significance
Select item 163092	NM_018139.3(DNAAF2):c.2212A>G (p.Met738Val)	DNAAF2 (M738V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2814624	NM_018139.3(DNAAF2):c.2211A>G (p.Gln737=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2536323	NM_018139.3(DNAAF2):c.2207C>T (p.Ser736Phe)	DNAAF2 (S736F +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1083122	NM_018139.3(DNAAF2):c.2205T>A (p.Val735=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 701117	NM_018139.3(DNAAF2):c.2196T>C (p.Ser732=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 411171	NM_018139.3(DNAAF2):c.2191G>C (p.Glu731Gln)	DNAAF2 (E731Q +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 215525	NM_018139.3(DNAAF2):c.2187A>G (p.Gln729=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 2552341	NM_018139.3(DNAAF2):c.2180G>T (p.Cys727Phe)	DNAAF2 (C679F +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 454903	NM_018139.3(DNAAF2):c.2178A>G (p.Thr726=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 241282	NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala)	DNAAF2 (T726A +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 416623	NM_018139.3(DNAAF2):c.2163C>T (p.Ser721=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2190133	NM_018139.3(DNAAF2):c.2148A>C (p.Ala716=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 761139	NM_018139.3(DNAAF2):c.2139A>C (p.Ala713=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 454902	NM_018139.3(DNAAF2):c.2134A>G (p.Ile712Val)	DNAAF2 (I712V +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2126975	NM_018139.3(DNAAF2):c.2125G>T (p.Asp709Tyr)	DNAAF2 (D709Y +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2141539	NM_018139.3(DNAAF2):c.2108C>A (p.Thr703Asn)	DNAAF2 (T655N +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 497978	NM_018139.3(DNAAF2):c.2106C>T (p.Asn702=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2063015	NM_018139.3(DNAAF2):c.2102G>T (p.Cys701Phe)	DNAAF2 (C653F +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2911085	NM_018139.3(DNAAF2):c.2092A>G (p.Ile698Val)	DNAAF2 (I698V +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3227126	NM_018139.3(DNAAF2):c.2069G>T (p.Ser690Ile)	DNAAF2 (S642I +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 880866	NM_018139.3(DNAAF2):c.2053A>G (p.Arg685Gly)	DNAAF2 (R637G +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 10	GUncertain significance
Select item 2913975	NM_018139.3(DNAAF2):c.2046G>A (p.Lys682=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2805049	NM_018139.3(DNAAF2):c.2035C>T (p.Leu679=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 954209	NM_018139.3(DNAAF2):c.2027_2028del (p.Asn675_Ser676insTer)	DNAAF2	Microsatellite (nonsense +1 more)	Primary ciliary dyskinesia 10 +1 more	GConflicting classifications of pathogenicity
Select item 454901	NM_018139.3(DNAAF2):c.2008-10C>T	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2081610	NM_018139.3(DNAAF2):c.2008-12C>G	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2790747	NM_018139.3(DNAAF2):c.2008-19G>A	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1707364	NM_018139.3(DNAAF2):c.2008-109G>A	DNAAF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291128	NM_018139.3(DNAAF2):c.2008-136A>G	DNAAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262743	NM_018139.3(DNAAF2):c.2007+300T>C	DNAAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276870	NM_018139.3(DNAAF2):c.2007+235G>A	DNAAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235921	NM_018139.3(DNAAF2):c.2007+144dup	DNAAF2	Duplication (intron variant)	not provided	GBenign
Select item 1213505	NM_018139.3(DNAAF2):c.2007+157del	DNAAF2	Deletion (intron variant)	not provided	GLikely benign
Select item 1182764	NM_018139.3(DNAAF2):c.2007+91C>T	DNAAF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261018	NM_018139.3(DNAAF2):c.2007+15G>A	DNAAF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2728628	NM_018139.3(DNAAF2):c.2007+10T>C	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1980023	NM_018139.3(DNAAF2):c.2007+6G>A	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 570282	NM_018139.3(DNAAF2):c.2007+5G>A	DNAAF2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3014834	NM_018139.3(DNAAF2):c.2001T>C (p.Asn667=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1448671	NM_018139.3(DNAAF2):c.1983T>A (p.Asp661Glu)	DNAAF2 (D661E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 411167	NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)	DNAAF2 (L657F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 642250	NM_018139.3(DNAAF2):c.1960A>G (p.Ile654Val)	DNAAF2 (I654V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1407894	NM_018139.3(DNAAF2):c.1954C>G (p.Pro652Ala)	DNAAF2 (P652A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 195338	NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 10 +3 more	GConflicting classifications of pathogenicity
Select item 1977707	NM_018139.3(DNAAF2):c.1949C>T (p.Thr650Ile)	DNAAF2 (T650I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 704381	NM_018139.3(DNAAF2):c.1947G>A (p.Leu649=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2413657	NM_018139.3(DNAAF2):c.1944C>G (p.Ser648=)	DNAAF2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 940540	NM_018139.3(DNAAF2):c.1939A>G (p.Met647Val)	DNAAF2 (M647V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1782902	NM_018139.3(DNAAF2):c.1932A>T (p.Lys644Asn)	DNAAF2 (K644N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance

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