ClinVar for Gene (Select 23639) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245527	NC_000008.10:g.(?_133584554)_(133584748_?)dup	DNAAF11	Duplication	Primary ciliary dyskinesia 19	GUncertain significance
Select item 3245525	NC_000008.10:g.(?_133595921)_(133596046_?)dup	DNAAF11	Duplication	Primary ciliary dyskinesia 19	GLikely pathogenic
Select item 3245518	NC_000008.10:g.(?_133492374)_(134296554_?)dup	CCN4, DNAAF11 +6 more	Duplication	Benign neonatal seizures	GUncertain significance
Select item 3083323	NM_012472.6(DNAAF11):c.460G>A (p.Glu154Lys)	DNAAF11 (E154K +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083322	NM_012472.6(DNAAF11):c.1328C>T (p.Pro443Leu)	DNAAF11 (P323L +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083321	NM_012472.6(DNAAF11):c.130C>T (p.Arg44Trp)	DNAAF11 (R44W)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	MTBP, MTSS1 +173 more	Copy number gain	not provided	GPathogenic
Select item 3020919	NM_012472.6(DNAAF11):c.1386G>A (p.Val462=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 3006643	NM_012472.6(DNAAF11):c.1226+10T>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 3003772	NM_012472.6(DNAAF11):c.403G>T (p.Val135Leu)	DNAAF11 (V135L +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 3003396	NM_012472.6(DNAAF11):c.654-1G>T	DNAAF11	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 19	GLikely pathogenic
Select item 2978634	NM_012472.6(DNAAF11):c.55_56del (p.Val19fs)	DNAAF11 (V19fs)	Microsatellite (frameshift variant +3 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 2918105	NM_012472.6(DNAAF11):c.996C>T (p.Ile332=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2916559	NM_012472.6(DNAAF11):c.10+12T>A	DNAAF11	Single nucleotide variant (5 prime UTR variant +2 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2913116	NM_012472.6(DNAAF11):c.1141-7A>G	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2913002	NM_012472.6(DNAAF11):c.1167G>A (p.Gln389=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2913001	NM_012472.6(DNAAF11):c.837-9A>G	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2911012	NM_012472.6(DNAAF11):c.836+20G>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2890552	NM_012472.6(DNAAF11):c.756G>A (p.Lys252=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2880518	NM_012472.6(DNAAF11):c.108A>G (p.Leu36=)	DNAAF11	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2860666	NM_012472.6(DNAAF11):c.81G>A (p.Ser27=)	DNAAF11	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2845864	NM_012472.6(DNAAF11):c.1140+11T>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2842606	NM_012472.6(DNAAF11):c.845dup (p.Lys283fs)	DNAAF11 (K163fs +2 more)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 2841947	NM_012472.6(DNAAF11):c.654-20G>T	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2813779	NM_012472.6(DNAAF11):c.974+9A>G	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2812218	NM_012472.6(DNAAF11):c.372A>C (p.Pro124=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2808986	NM_012472.6(DNAAF11):c.726C>T (p.Asn242=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2787661	NM_012472.6(DNAAF11):c.451G>T (p.Glu151Ter)	DNAAF11 (E151* +2 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 2756519	NM_012472.6(DNAAF11):c.1272A>G (p.Ser424=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2745552	NM_012472.6(DNAAF11):c.429+13T>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2739863	NM_012472.6(DNAAF11):c.98T>C (p.Ile33Thr)	DNAAF11 (I33T)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 2727500	NM_012472.6(DNAAF11):c.48C>T (p.Asn16=)	DNAAF11	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2725940	NM_012472.6(DNAAF11):c.1392G>A (p.Pro464=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GBenign
Select item 2718028	NM_012472.6(DNAAF11):c.179-16T>G	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2716822	NM_012472.6(DNAAF11):c.1226+17C>T	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2685323	GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1	ADCY8, CCN4 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2631830	NM_012472.6(DNAAF11):c.429_429+15del	DNAAF11	Deletion (splice donor variant)	DNAAF11-related disorder	GLikely pathogenic
Select item 2625021	NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln)	DNAAF11 (K260Q +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2619125	NM_012472.6(DNAAF11):c.1148A>T (p.Glu383Val)	DNAAF11 (E243V +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2619114	NM_012472.6(DNAAF11):c.853G>C (p.Val285Leu)	DNAAF11 (V165L +2 more)	Single nucleotide variant (missense variant +1 more)	DNAAF11-related disorder +1 more	GUncertain significance
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2577624	NM_012472.6(DNAAF11):c.836+2T>G	DNAAF11	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2575826	NM_012472.6(DNAAF11):c.674A>T (p.Asp225Val)	DNAAF11 (D105V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2487608	NM_012472.6(DNAAF11):c.1054C>G (p.Leu352Val)	DNAAF11 (L270V +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2480095	NM_012472.6(DNAAF11):c.1178A>C (p.Lys393Thr)	DNAAF11 (K311T +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2447541	NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2447539	NM_012472.6(DNAAF11):c.681A>G (p.Leu227=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2430820	NM_012472.6(DNAAF11):c.974+41C>G	DNAAF11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421581	NM_012472.6(DNAAF11):c.1A>G (p.Met1Val)	DNAAF11 (M1V)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 2334421	NM_012472.6(DNAAF11):c.1117C>A (p.His373Asn)	DNAAF11 (H233N +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2321804	NM_012472.6(DNAAF11):c.1021G>A (p.Val341Met)	DNAAF11 (V221M +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2309085	NM_012472.6(DNAAF11):c.940G>A (p.Glu314Lys)	DNAAF11 (E194K +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2282926	NM_012472.6(DNAAF11):c.1390C>T (p.Pro464Ser)	DNAAF11 (P324S +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2195058	NM_012472.6(DNAAF11):c.915-11G>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2194735	NM_012472.6(DNAAF11):c.80C>T (p.Ser27Leu)	DNAAF11 (S27L)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2176743	NM_012472.6(DNAAF11):c.939C>T (p.Asn313=)	DNAAF11	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2172398	NM_012472.6(DNAAF11):c.873G>C (p.Leu291Phe)	DNAAF11 (L209F +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2171334	NM_012472.6(DNAAF11):c.47A>T (p.Asn16Ile)	DNAAF11 (N16I)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2153809	NM_012472.6(DNAAF11):c.969C>G (p.Val323=)	DNAAF11	Single nucleotide variant (non-coding transcript variant +2 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2149443	NM_012472.6(DNAAF11):c.974+1G>T	DNAAF11	Single nucleotide variant (intron variant +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 2138229	NM_012472.6(DNAAF11):c.1140+6T>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2137422	NM_012472.6(DNAAF11):c.845del (p.Lys282fs)	DNAAF11 (K162fs +2 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 2105170	NM_012472.6(DNAAF11):c.326T>G (p.Leu109Trp)	DNAAF11 (L109W +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Primary ciliary dyskinesia 19	GLikely pathogenic
Select item 2078467	NM_012472.6(DNAAF11):c.1011A>G (p.Gln337=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2070622	NM_012472.6(DNAAF11):c.1335C>G (p.Pro445=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2050270	NM_012472.6(DNAAF11):c.901G>A (p.Val301Met)	DNAAF11 (V181M +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2048125	NM_012472.6(DNAAF11):c.272C>A (p.Ala91Glu)	DNAAF11 (A91E +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2047023	NM_012472.6(DNAAF11):c.935A>T (p.Asp312Val)	DNAAF11 (D312V +2 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2042268	NM_012472.6(DNAAF11):c.1271C>T (p.Ser424Leu)	DNAAF11 (S342L +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2027019	NM_012472.6(DNAAF11):c.837-11C>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2024059	NM_012472.6(DNAAF11):c.714G>T (p.Lys238Asn)	DNAAF11 (K238N +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2024048	NM_012472.6(DNAAF11):c.48_49insCTTTGT (p.Asn16_Asp17insLeuCys)	DNAAF11	Insertion (inframe_insertion +3 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2023211	NM_012472.6(DNAAF11):c.306G>A (p.Glu102=)	DNAAF11	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2018797	NM_012472.6(DNAAF11):c.481G>T (p.Asp161Tyr)	DNAAF11 (D41Y +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 2018513	NM_012472.6(DNAAF11):c.10+7C>T	DNAAF11	Single nucleotide variant (5 prime UTR variant +2 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1997061	NM_012472.6(DNAAF11):c.1317C>G (p.Pro439=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1980976	NM_012472.6(DNAAF11):c.1142T>A (p.Val381Glu)	DNAAF11 (V261E +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1968320	NM_012472.6(DNAAF11):c.1325G>A (p.Arg442Gln)	DNAAF11 (R302Q +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1956248	NM_012472.6(DNAAF11):c.10+6C>A	DNAAF11	Single nucleotide variant (5 prime UTR variant +2 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1800373	NM_012472.6(DNAAF11):c.328C>T (p.Gln110Ter)	DNAAF11 (Q110* +1 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1800310	NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter)	DNAAF11 (R202* +4 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1800269	NM_012472.6(DNAAF11):c.1059C>T (p.Val353=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1800057	NM_012472.6(DNAAF11):c.802A>G (p.Met268Val)	DNAAF11 (M148V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1800010	NM_012472.6(DNAAF11):c.106C>G (p.Leu36Val)	DNAAF11 (L36V)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1799855	NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg)	DNAAF11 (H283R +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1799677	NM_012472.6(DNAAF11):c.738_745dup (p.Phe249fs)	DNAAF11 (F129fs +2 more)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1799643	NM_012472.6(DNAAF11):c.1133T>C (p.Met378Thr)	DNAAF11 (M238T +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1681049	NM_012472.6(DNAAF11):c.4G>C (p.Gly2Arg)	DNAAF11 (G2R)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681048	NM_012472.6(DNAAF11):c.118G>A (p.Asp40Asn)	DNAAF11 (D40N)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GUncertain significance
Select item 1681047	NM_012472.6(DNAAF11):c.122A>G (p.Lys41Arg)	DNAAF11 (K41R)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681046	NM_012472.6(DNAAF11):c.147C>G (p.Leu49=)	DNAAF11	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia 19 +1 more	GLikely benign
Select item 1681045	NM_012472.6(DNAAF11):c.178+18G>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681044	NM_012472.6(DNAAF11):c.193C>T (p.Leu65Phe)	DNAAF11 (L65F)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681043	NM_012472.6(DNAAF11):c.409G>A (p.Ala137Thr)	DNAAF11 (A137T +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance

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