ClinVar for MedGen (Select 762332) - 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 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 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 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 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 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 (synonymous variant +2 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 2149443	NM_012472.6(DNAAF11):c.974+1G>T	DNAAF11	Single nucleotide variant (splice donor 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 (missense 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 19 +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 1800310	NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter)	DNAAF11 (R202* +4 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 19 +1 more	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)	Primary ciliary dyskinesia 19 +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 +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
Select item 1681042	NM_012472.6(DNAAF11):c.595G>A (p.Asp199Asn)	DNAAF11 (D117N +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681041	NM_012472.6(DNAAF11):c.633C>T (p.Tyr211=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681040	NM_012472.6(DNAAF11):c.654-20del	DNAAF11	Deletion (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681039	NM_012472.6(DNAAF11):c.691G>C (p.Asp231His)	DNAAF11 (D111H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681038	NM_012472.6(DNAAF11):c.707A>G (p.Asn236Ser)	DNAAF11 (N116S +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681037	NM_012472.6(DNAAF11):c.724_725del (p.Asn242fs)	DNAAF11 (N122fs +2 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 1681036	NM_012472.6(DNAAF11):c.836+18A>G	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681035	NM_012472.6(DNAAF11):c.914+18G>C	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681034	NM_012472.6(DNAAF11):c.915-19C>T	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681033	NM_012472.6(DNAAF11):c.976T>A (p.Tyr326Asn)	DNAAF11 (Y186N +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1681032	NM_012472.6(DNAAF11):c.988T>A (p.Ser330Thr)	DNAAF11 (S190T +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1681031	NM_012472.6(DNAAF11):c.996C>A (p.Ile332=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681030	NM_012472.6(DNAAF11):c.1027G>A (p.Val343Ile)	DNAAF11 (V203I +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681029	NM_012472.6(DNAAF11):c.1068A>G (p.Ala356=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681028	NM_012472.6(DNAAF11):c.1118A>G (p.His373Arg)	DNAAF11 (H233R +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681027	NM_012472.6(DNAAF11):c.1140+3A>G	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 1681026	NM_012472.6(DNAAF11):c.1141-18G>A	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681025	NM_012472.6(DNAAF11):c.1284G>A (p.Val428=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1681024	NM_012472.6(DNAAF11):c.1392G>C (p.Pro464=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GBenign
Select item 1526036	NM_012472.6(DNAAF11):c.1142del (p.Val381fs)	DNAAF11 (V241fs +4 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 1192007	NM_012472.6(DNAAF11):c.974+18G>A	DNAAF11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1164571	NM_012472.6(DNAAF11):c.1293A>C (p.Ile431=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1122795	NM_012472.6(DNAAF11):c.11-10T>C	DNAAF11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1119516	NM_012472.6(DNAAF11):c.864C>T (p.Pro288=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1082197	NM_012472.6(DNAAF11):c.402C>T (p.Phe134=)	DNAAF11	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1079568	NM_012472.6(DNAAF11):c.250T>C (p.Leu84=)	DNAAF11	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia 19	GLikely benign
Select item 1071740	NM_012472.6(DNAAF11):c.450_451delinsGT (p.Ile150_Glu151delinsMetTer)	DNAAF11	Indel (nonsense +1 more)	Primary ciliary dyskinesia 19	GPathogenic
Select item 1066413	NC_000008.10:g.(?_133584534)_(133584748_?)del	DNAAF11	Deletion	Primary ciliary dyskinesia 19	GLikely pathogenic
Select item 1027083	NM_012472.6(DNAAF11):c.145C>G (p.Leu49Val)	DNAAF11 (L49V)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 977554	NM_012472.6(DNAAF11):c.354_355del (p.Phe119fs)	DNAAF11 (F119fs +1 more)	Microsatellite (frameshift variant +2 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 972364	NM_012472.6(DNAAF11):c.1186A>G (p.Lys396Glu)	DNAAF11 (K276E +4 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19	GUncertain significance
Select item 965034	NM_012472.6(DNAAF11):c.814C>T (p.Arg272Trp)	DNAAF11 (R190W +2 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance
Select item 964732	NM_012472.6(DNAAF11):c.340C>T (p.His114Tyr)	DNAAF11 (H114Y +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 19 +1 more	GUncertain significance

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