DNAH8-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 1295613	NM_001206927.2(DNAH8):c.9348+205T>C	DNAH8, DNAH8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1249278	NM_001206927.2(DNAH8):c.9349-311A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1220975	NM_001206927.2(DNAH8):c.9349-206G>A	DNAH8, DNAH8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2124802	NM_001206927.2(DNAH8):c.9349-11A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2814182	NM_001206927.2(DNAH8):c.9349-7C>A	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 454609	NM_001206927.2(DNAH8):c.9349-1G>T	DNAH8, DNAH8-AS1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 862355	NM_001206927.2(DNAH8):c.9368G>A (p.Arg3123Gln)	DNAH8, DNAH8-AS1 (R2906Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1168411	NM_001206927.2(DNAH8):c.9369A>G (p.Arg3123=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 695288	NM_001206927.2(DNAH8):c.9375G>A (p.Glu3125=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1953775	NM_001206927.2(DNAH8):c.9392A>G (p.Gln3131Arg)	DNAH8, DNAH8-AS1 (Q3131R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3084192	NM_001206927.2(DNAH8):c.9410T>C (p.Met3137Thr)	DNAH8, DNAH8-AS1 (M3137T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 641999	NM_001206927.2(DNAH8):c.9427C>T (p.Arg3143Cys)	DNAH8, DNAH8-AS1 (R2926C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3084193	NM_001206927.2(DNAH8):c.9428G>T (p.Arg3143Leu)	DNAH8, DNAH8-AS1 (R3143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388600	NM_001206927.2(DNAH8):c.9434C>T (p.Pro3145Leu)	DNAH8, DNAH8-AS1 (P3145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 662488	NM_001206927.2(DNAH8):c.9434C>G (p.Pro3145Arg)	DNAH8, DNAH8-AS1 (P2928R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2076058	NM_001206927.2(DNAH8):c.9455A>G (p.Tyr3152Cys)	DNAH8, DNAH8-AS1 (Y2935C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2420429	NM_001206927.2(DNAH8):c.9459A>G (p.Glu3153=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2488304	NM_001206927.2(DNAH8):c.9469T>G (p.Ser3157Ala)	DNAH8, DNAH8-AS1 (S2940A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2000730	NM_001206927.2(DNAH8):c.9486C>T (p.Asn3162=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2162623	NM_001206927.2(DNAH8):c.9501C>T (p.Leu3167=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2831689	NM_001206927.2(DNAH8):c.9513+7_9513+10del	DNAH8, DNAH8-AS1	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1549921	NM_001206927.2(DNAH8):c.9513+15T>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 2049641	NM_001206927.2(DNAH8):c.9514-20G>C	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2656530	NM_001206927.2(DNAH8):c.9514-4A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1999878	NM_001206927.2(DNAH8):c.9529del (p.Arg3177fs)	DNAH8, DNAH8-AS1 (R2960fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2078516	NM_001206927.2(DNAH8):c.9529C>T (p.Arg3177Cys)	DNAH8, DNAH8-AS1 (R2960C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2040260	NM_001206927.2(DNAH8):c.9536G>A (p.Arg3179His)	DNAH8-AS1, DNAH8 (R3179H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 414381	NM_001206927.2(DNAH8):c.9574A>G (p.Met3192Val)	DNAH8, DNAH8-AS1 (M3192V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2727254	NM_001206927.2(DNAH8):c.9579C>T (p.Asp3193=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2045383	NM_001206927.2(DNAH8):c.9589C>T (p.Arg3197Cys)	DNAH8, DNAH8-AS1 (R2980C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2054957	NM_001206927.2(DNAH8):c.9600G>A (p.Arg3200=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2039768	NM_001206927.2(DNAH8):c.9619G>A (p.Ala3207Thr)	DNAH8, DNAH8-AS1 (A3207T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3024914	NM_001206927.2(DNAH8):c.9637G>C (p.Asp3213His)	DNAH8, DNAH8-AS1 (D2996H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 414420	NM_001206927.2(DNAH8):c.9643A>T (p.Asn3215Tyr)	DNAH8, DNAH8-AS1 (N3215Y +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1380542	NM_001206927.2(DNAH8):c.9671G>T (p.Arg3224Ile)	DNAH8, DNAH8-AS1 (R3007I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454610	NM_001206927.2(DNAH8):c.9673C>A (p.Gln3225Lys)	DNAH8, DNAH8-AS1 (Q3225K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2224104	NM_001206927.2(DNAH8):c.9701A>C (p.His3234Pro)	DNAH8, DNAH8-AS1 (H3017P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084194	NM_001206927.2(DNAH8):c.9706A>G (p.Met3236Val)	DNAH8, DNAH8-AS1 (M3019V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 238658	NM_001206927.2(DNAH8):c.9710T>C (p.Val3237Ala)	DNAH8, DNAH8-AS1 (V3237A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1107477	NM_001206927.2(DNAH8):c.9714A>C (p.Ser3238=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2904505	NM_001206927.2(DNAH8):c.9717G>A (p.Glu3239=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 663666	NM_001206927.2(DNAH8):c.9719G>A (p.Ser3240Asn)	DNAH8, DNAH8-AS1 (S3023N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1415036	NM_001206927.2(DNAH8):c.9721T>C (p.Cys3241Arg)	DNAH8, DNAH8-AS1 (C3241R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 238659	NM_001206927.2(DNAH8):c.9739A>G (p.Arg3247Gly)	DNAH8, DNAH8-AS1 (R3247G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 941783	NM_001206927.2(DNAH8):c.9740+4_9740+10del	DNAH8, DNAH8-AS1	Deletion (splice donor variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2152172	NM_001206927.2(DNAH8):c.9740+8A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1582848	NM_001206927.2(DNAH8):c.9740+11T>C	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 2849150	NM_001206927.2(DNAH8):c.9740+13A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1268038	NM_001206927.2(DNAH8):c.9740+85C>A	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598227	NM_001206927.2(DNAH8):c.9741-18T>C	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1572527	NM_001206927.2(DNAH8):c.9741-14T>C	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2812995	NM_001206927.2(DNAH8):c.9741-13G>T	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1899981	NM_001206927.2(DNAH8):c.9741-13G>A	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1404929	NM_001206927.2(DNAH8):c.9745C>T (p.Arg3249Cys)	DNAH8, DNAH8-AS1 (R3032C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 664597	NM_001206927.2(DNAH8):c.9748C>T (p.Arg3250Ter)	DNAH8, DNAH8-AS1 (R3033* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1430331	NM_001206927.2(DNAH8):c.9749G>A (p.Arg3250Gln)	DNAH8, DNAH8-AS1 (R3250Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 753245	NM_001206927.2(DNAH8):c.9762G>A (p.Val3254=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801760	NM_001206927.2(DNAH8):c.9771A>G (p.Lys3257=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3084195	NM_001206927.2(DNAH8):c.9784T>C (p.Phe3262Leu)	DNAH8, DNAH8-AS1 (F3262L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2188423	NM_001206927.2(DNAH8):c.9792T>C (p.Asn3264=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 407301	NM_001206927.2(DNAH8):c.9793G>T (p.Gly3265Cys)	DNAH8, DNAH8-AS1 (G3265C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2033017	NM_001206927.2(DNAH8):c.9812_9813insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACATTTATGC (p.Glu3272fs)	DNAH8, DNAH8-AS1 (E3272fs +1 more)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 955481	NM_001206927.2(DNAH8):c.9811G>T (p.Ala3271Ser)	DNAH8, DNAH8-AS1 (A3054S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2777890	NM_001206927.2(DNAH8):c.9819G>A (p.Lys3273=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2730687	NM_001206927.2(DNAH8):c.9820G>C (p.Val3274Leu)	DNAH8, DNAH8-AS1 (V3057L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 407280	NM_001206927.2(DNAH8):c.9839A>T (p.Gln3280Leu)	DNAH8, DNAH8-AS1 (Q3280L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2175220	NM_001206927.2(DNAH8):c.9840G>A (p.Gln3280=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3084196	NM_001206927.2(DNAH8):c.9847C>T (p.Arg3283Cys)	DNAH8, DNAH8-AS1 (R3066C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516848	NM_001206927.2(DNAH8):c.9848G>A (p.Arg3283His)	DNAH8, DNAH8-AS1 (R3066H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2848230	NM_001206927.2(DNAH8):c.9859+5_9859+9dup	DNAH8, DNAH8-AS1	Duplication (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 238660	NM_001206927.2(DNAH8):c.9859+7GGAAT[2]	DNAH8, DNAH8-AS1	Microsatellite (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 2854518	NM_001206927.2(DNAH8):c.9860-20A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1549983	NM_001206927.2(DNAH8):c.9860-11T>C	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 958353	NM_001206927.2(DNAH8):c.9860-9T>A	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1447569	NM_001206927.2(DNAH8):c.9890C>G (p.Ser3297Cys)	DNAH8, DNAH8-AS1 (S3080C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1075678	NM_001206927.2(DNAH8):c.9898A>T (p.Lys3300Ter)	DNAH8, DNAH8-AS1 (K3083* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1593020	NM_001206927.2(DNAH8):c.9906T>G (p.Ser3302=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 414418	NM_001206927.2(DNAH8):c.9943G>A (p.Ala3315Thr)	DNAH8, DNAH8-AS1 (A3315T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 1905447	NM_001206927.2(DNAH8):c.9960C>T (p.Asp3320=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 566800	NM_001206927.2(DNAH8):c.9961G>A (p.Glu3321Lys)	DNAH8, DNAH8-AS1 (E3321K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1618292	NM_001206927.2(DNAH8):c.9963+15A>T	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1295597	NM_001206927.2(DNAH8):c.9963+166G>A	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295614	NM_001206927.2(DNAH8):c.9964-35T>A	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2776246	NM_001206927.2(DNAH8):c.9964-20G>A	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2042009	NM_001206927.2(DNAH8):c.9964-11C>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 699717	NM_001206927.2(DNAH8):c.9972A>C (p.Ala3324=)	DNAH8-AS1, DNAH8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 414400	NM_001206927.2(DNAH8):c.9987C>T (p.Ser3329=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 3084197	NM_001206927.2(DNAH8):c.9988G>A (p.Ala3330Thr)	DNAH8, DNAH8-AS1 (A3330T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2165137	NM_001206927.2(DNAH8):c.10042C>G (p.Gln3348Glu)	DNAH8, DNAH8-AS1 (Q3131E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 842815	NM_001206927.2(DNAH8):c.10042C>A (p.Gln3348Lys)	DNAH8, DNAH8-AS1 (Q3131K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2142399	NM_001206927.2(DNAH8):c.10081G>A (p.Ala3361Thr)	DNAH8, DNAH8-AS1 (A3144T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2737550	NM_001206927.2(DNAH8):c.10098G>A (p.Glu3366=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2917296	NM_001206927.2(DNAH8):c.10101A>G (p.Ala3367=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2064876	NM_001206927.2(DNAH8):c.10102G>C (p.Ala3368Pro)	DNAH8, DNAH8-AS1 (A3151P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2826542	NM_001206927.2(DNAH8):c.10140+7A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1607136	NM_001206927.2(DNAH8):c.10140+12A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2081990	NM_001206927.2(DNAH8):c.10140+15G>T	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1225952	NM_001206927.2(DNAH8):c.10141-297A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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