Related gene-specific medical variations for Gene (Select 1769) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272936	NM_001206927.2(DNAH8):c.10736G>A (p.Gly3579Glu)	DNAH8, DNAH8-AS1 (G3579E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3272931	NM_001206927.2(DNAH8):c.12422T>C (p.Ile4141Thr)	DNAH8, DNAH8-AS1 (I3924T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272928	NM_001206927.2(DNAH8):c.10360A>T (p.Thr3454Ser)	DNAH8, DNAH8-AS1 (T3454S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245948	NC_000006.11:g.(?_38743510)_(38843624_?)dup	DNAH8	Duplication	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3245947	NC_000006.11:g.(?_38881605)_(38885936_?)del	DNAH8	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3245946	NC_000006.11:g.(?_38702230)_(38709683_?)del	DNAH8	Deletion	Primary ciliary dyskinesia	GPathogenic
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 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 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 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 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 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 3084158	NM_001206927.2(DNAH8):c.12367A>G (p.Thr4123Ala)	DNAH8, DNAH8-AS1 (T3906A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084157	NM_001206927.2(DNAH8):c.12086T>G (p.Val4029Gly)	DNAH8, DNAH8-AS1 (V4029G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084155	NM_001206927.2(DNAH8):c.11614C>A (p.Gln3872Lys)	DNAH8, DNAH8-AS1 (Q3655K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084154	NM_001206927.2(DNAH8):c.11180G>A (p.Arg3727Gln)	DNAH8, DNAH8-AS1 (R3510Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084153	NM_001206927.2(DNAH8):c.10673A>C (p.Asn3558Thr)	DNAH8, DNAH8-AS1 (N3341T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065555	NM_001206927.2(DNAH8):c.7480-1G>A	DNAH8	Single nucleotide variant (splice acceptor variant)	Spermatogenic failure 46	GLikely pathogenic
Select item 3064687	NM_001206927.2(DNAH8):c.11422C>T (p.Gln3808Ter)	DNAH8, DNAH8-AS1 (Q3591* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 46	GLikely pathogenic
Select item 3053749	NM_001206927.2(DNAH8):c.-9C>T	DNAH8, LOC126859667	Single nucleotide variant (5 prime UTR variant)	DNAH8-related disorder	GLikely benign
Select item 3052710	NM_001206927.2(DNAH8):c.12248+9A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	DNAH8-related disorder	GLikely benign
Select item 3038416	NM_001206927.2(DNAH8):c.11184C>T (p.Pro3728=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	DNAH8-related disorder	GLikely benign
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 3020972	NM_001206927.2(DNAH8):c.10610C>A (p.Ala3537Asp)	DNAH8, DNAH8-AS1 (A3320D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3020709	NM_001206927.2(DNAH8):c.11334G>A (p.Thr3778=)	DNAH8-AS1, DNAH8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3008134	NM_001206927.2(DNAH8):c.10141-11C>T	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3005601	NM_001206927.2(DNAH8):c.10339C>T (p.Leu3447Phe)	DNAH8, DNAH8-AS1 (L3230F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3001166	NM_001206927.2(DNAH8):c.339C>G (p.Arg113=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3001085	NM_001206927.2(DNAH8):c.11526T>A (p.Leu3842=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2992268	NM_001206927.2(DNAH8):c.10963-17C>T	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2989567	NM_001206927.2(DNAH8):c.10308+14A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2975339	NM_001206927.2(DNAH8):c.155A>G (p.Glu52Gly)	DNAH8, LOC126859667 (E52G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2969854	NM_001206927.2(DNAH8):c.12376C>T (p.Pro4126Ser)	DNAH8, DNAH8-AS1 (P3909S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2918333	NM_001206927.2(DNAH8):c.12298G>C (p.Asp4100His)	DNAH8, DNAH8-AS1 (D3883H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 2908015	NM_001206927.2(DNAH8):c.10790+13G>C	DNAH8, DNAH8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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 2896454	NM_001206927.2(DNAH8):c.11814C>A (p.Ala3938=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2893872	NM_001206927.2(DNAH8):c.12008-4C>T	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2890760	NM_001206927.2(DNAH8):c.12114A>T (p.Ala4038=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2881750	NM_001206927.2(DNAH8):c.12130-13T>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2874563	NM_001206927.2(DNAH8):c.11949A>G (p.Leu3983=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2873808	NM_001206927.2(DNAH8):c.126G>A (p.Pro42=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2872576	NM_001206927.2(DNAH8):c.318C>T (p.Ser106=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2852556	NM_001206927.2(DNAH8):c.10524+15C>T	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2848230	NM_001206927.2(DNAH8):c.9859+5_9859+9dup	DNAH8, DNAH8-AS1	Duplication (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2847896	NM_001206927.2(DNAH8):c.10341T>C (p.Leu3447=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2845797	NM_001206927.2(DNAH8):c.11458-16T>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2842618	NM_001206927.2(DNAH8):c.11556T>C (p.Ala3852=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2836854	NM_001206927.2(DNAH8):c.11476G>T (p.Val3826Phe)	DNAH8, DNAH8-AS1 (V3826F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2835433	NM_001206927.2(DNAH8):c.12345G>A (p.Glu4115=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2834888	NM_001206927.2(DNAH8):c.12040C>G (p.Pro4014Ala)	DNAH8, DNAH8-AS1 (P3797A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 2829941	NM_001206927.2(DNAH8):c.10279del (p.Cys3427fs)	DNAH8, DNAH8-AS1 (C3427fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2827052	NM_001206927.2(DNAH8):c.12249-2A>T	DNAH8, DNAH8-AS1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
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 2822594	NM_001206927.2(DNAH8):c.12130-3T>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2820615	NM_001206927.2(DNAH8):c.10837G>A (p.Gly3613Ser)	DNAH8, DNAH8-AS1 (G3396S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2814633	NM_001206927.2(DNAH8):c.11274+11dup	DNAH8, DNAH8-AS1	Duplication (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 2812995	NM_001206927.2(DNAH8):c.9741-13G>T	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2811823	NM_001206927.2(DNAH8):c.33T>G (p.Ser11=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2807792	NM_001206927.2(DNAH8):c.525+12T>G	DNAH8, LOC126859667	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	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 2786062	NM_001206927.2(DNAH8):c.10790+16T>G	DNAH8, DNAH8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2776246	NM_001206927.2(DNAH8):c.9964-20G>A	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2773125	NM_001206927.2(DNAH8):c.11196G>A (p.Glu3732=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2770185	NM_001206927.2(DNAH8):c.11161G>A (p.Asp3721Asn)	DNAH8, DNAH8-AS1 (D3504N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2761645	NM_001206927.2(DNAH8):c.24C>A (p.Gly8=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2761115	NM_001206927.2(DNAH8):c.10663-2A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2757516	NM_001206927.2(DNAH8):c.321dup (p.Arg108fs)	DNAH8, LOC126859667 (R108fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2745219	NM_001206927.2(DNAH8):c.12007+14G>C	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2741091	NM_001206927.2(DNAH8):c.12018T>C (p.Ala4006=)	DNAH8-AS1, DNAH8	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2739725	NM_001206927.2(DNAH8):c.275C>T (p.Pro92Leu)	DNAH8, LOC126859667 (P92L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2739637	NM_001206927.2(DNAH8):c.72C>T (p.Ala24=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2734118	NM_001206927.2(DNAH8):c.11265C>A (p.Thr3755=)	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 2728907	NM_001206927.2(DNAH8):c.11877T>G (p.Tyr3959Ter)	DNAH8, DNAH8-AS1 (Y3742* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2728829	NM_001206927.2(DNAH8):c.12043A>G (p.Lys4015Glu)	DNAH8, DNAH8-AS1 (K4015E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 2725875	NM_001206927.2(DNAH8):c.366A>G (p.Leu122=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2725859	NM_001206927.2(DNAH8):c.156A>G (p.Glu52=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2722735	NM_001206927.2(DNAH8):c.10497C>A (p.Gly3499=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2711903	NM_001206927.2(DNAH8):c.10962+19A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2710358	NM_001206927.2(DNAH8):c.339C>T (p.Arg113=)	DNAH8, LOC126859667	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2709430	NM_001206927.2(DNAH8):c.12136C>T (p.Arg4046Cys)	DNAH8, DNAH8-AS1 (R3829C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2704395	NM_001206927.2(DNAH8):c.10141-19T>C	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2701645	NM_001206927.2(DNAH8):c.10662+9A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2698600	NM_001206927.2(DNAH8):c.11274+12A>G	DNAH8, DNAH8-AS1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2697299	NM_001206927.2(DNAH8):c.10269A>G (p.Glu3423=)	DNAH8, DNAH8-AS1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2664859	NM_001206927.2(DNAH8):c.10543G>C (p.Glu3515Gln)	DNAH8, DNAH8-AS1 (E3298Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 2637054	NM_001206927.2(DNAH8):c.11714del (p.Gly3905fs)	DNAH8, DNAH8-AS1 (G3688fs +1 more)	Deletion (frameshift variant)	DNAH8-related disorder	GLikely pathogenic
Select item 2635111	NM_001206927.2(DNAH8):c.360dup (p.Asn121fs)	DNAH8, LOC126859667 (N121fs)	Duplication (frameshift variant +1 more)	DNAH8-related disorder	GLikely pathogenic
Select item 2633003	NM_001206927.2(DNAH8):c.10582G>A (p.Ala3528Thr)	DNAH8, DNAH8-AS1 (A3311T +1 more)	Single nucleotide variant (missense variant)	DNAH8-related disorder	GUncertain significance
Select item 2575662	NM_001206927.2(DNAH8):c.12194T>A (p.Ile4065Asn)	DNAH8, DNAH8-AS1 (I3848N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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