"DNAH1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 113

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1453969	NM_015512.5(DNAH1):c.46C>T (p.Gln16Ter)	DNAH1 (Q16*)	Single nucleotide variant (nonsense)	Spermatogenic failure 18 +2 more	GConflicting classifications of pathogenicity
Select item 544654	NM_015512.5(DNAH1):c.269C>T (p.Pro90Leu)	DNAH1 (P90L)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3043788	NM_015512.5(DNAH1):c.333+10G>A	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder	GLikely benign
Select item 478507	NM_015512.5(DNAH1):c.888G>C (p.Gln296His)	DNAH1 (Q296H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +3 more	GLikely benign
Select item 1084766	NM_015512.5(DNAH1):c.1034-10C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 566945	NM_015512.5(DNAH1):c.1087T>C (p.Phe363Leu)	DNAH1 (F363L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 798212	NM_015512.5(DNAH1):c.1160C>A (p.Ala387Glu)	DNAH1 (A387E)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 2927760	NM_015512.5(DNAH1):c.1286+1G>A	DNAH1	Single nucleotide variant (splice donor variant)	Ciliary dyskinesia, primary, 37 +2 more	GLikely pathogenic
Select item 544645	NM_015512.5(DNAH1):c.1335T>C (p.Tyr445=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 290747	NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu)	DNAH1 (K451E)	Single nucleotide variant (missense variant)	DNAH1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 772266	NM_015512.5(DNAH1):c.1384C>T (p.Pro462Ser)	DNAH1 (P462S)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 706984	NM_015512.5(DNAH1):c.1442G>A (p.Arg481Gln)	DNAH1 (R481Q)	Single nucleotide variant (missense variant)	DNAH1-related disorder +3 more	GLikely benign
Select item 478415	NM_015512.5(DNAH1):c.1572C>T (p.Thr524=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GBenign/Likely benign
Select item 766922	NM_015512.5(DNAH1):c.1688G>A (p.Ser563Asn)	DNAH1 (S563N)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 478416	NM_015512.5(DNAH1):c.1759A>C (p.Asn587His)	DNAH1 (N587H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GBenign
Select item 478418	NM_015512.5(DNAH1):c.1912G>A (p.Asp638Asn)	DNAH1 (D638N)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GBenign/Likely benign
Select item 707433	NM_015512.5(DNAH1):c.1957C>T (p.Pro653Ser)	DNAH1 (P653S)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GBenign/Likely benign
Select item 1160741	NM_015512.5(DNAH1):c.2313G>A (p.Thr771=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 478431	NM_015512.5(DNAH1):c.2576A>G (p.Asn859Ser)	DNAH1 (N859S)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +3 more	GUncertain significance
Select item 3055077	NM_015512.5(DNAH1):c.2583T>C (p.Ile861=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 2046425	NM_015512.5(DNAH1):c.2624C>T (p.Pro875Leu)	DNAH1 (P875L)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 478435	NM_015512.5(DNAH1):c.2919C>T (p.His973=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +3 more	GBenign/Likely benign
Select item 478436	NM_015512.5(DNAH1):c.2926G>A (p.Ala976Thr)	DNAH1 (A976T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 577602	NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met)	DNAH1 (V1068M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2634114	NM_015512.5(DNAH1):c.3254G>A (p.Arg1085Gln)	DNAH1 (R1085Q)	Single nucleotide variant (missense variant)	DNAH1-related disorder	GUncertain significance
Select item 707380	NM_015512.5(DNAH1):c.3350A>G (p.Gln1117Arg)	DNAH1 (Q1117R)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 402608	NM_015512.5(DNAH1):c.3432C>T (p.Ser1144=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 478443	NM_015512.5(DNAH1):c.3573C>T (p.Asp1191=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 3033262	NM_015512.5(DNAH1):c.3780G>A (p.Leu1260=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 430856	NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn)	DNAH1 (D1293N)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 1403554	NM_015512.5(DNAH1):c.4026G>C (p.Gln1342His)	DNAH1 (Q1342H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +3 more	GUncertain significance
Select item 3035514	NM_015512.5(DNAH1):c.4074G>A (p.Glu1358=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 567451	NM_015512.5(DNAH1):c.4108G>A (p.Glu1370Lys)	DNAH1 (E1370K)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 2935311	NM_015512.5(DNAH1):c.4179C>T (p.Asn1393=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +2 more	GLikely benign
Select item 3052336	NM_015512.5(DNAH1):c.4266+10C>T	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder	GLikely benign
Select item 707656	NM_015512.5(DNAH1):c.4365C>T (p.Ala1455=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +3 more	GBenign/Likely benign
Select item 2927769	NM_015512.5(DNAH1):c.4449C>T (p.Arg1483=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +2 more	GLikely benign
Select item 838093	NM_015512.5(DNAH1):c.4603C>T (p.Arg1535Cys)	DNAH1 (R1535C)	Single nucleotide variant (missense variant)	DNAH1-related disorder +3 more	GUncertain significance
Select item 2924698	NM_015512.5(DNAH1):c.4914C>T (p.Ile1638=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +2 more	GLikely benign
Select item 2196136	NM_015512.5(DNAH1):c.4980+9G>A	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 749097	NM_015512.5(DNAH1):c.5031C>T (p.Cys1677=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 544669	NM_015512.5(DNAH1):c.5094+3A>T	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder +2 more	GBenign
Select item 544667	NM_015512.5(DNAH1):c.5100C>G (p.Leu1700=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 707567	NM_015512.5(DNAH1):c.5155C>T (p.Leu1719Phe)	DNAH1 (L1719F)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 478456	NM_015512.5(DNAH1):c.5182A>T (p.Ser1728Cys)	DNAH1 (S1728C)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GBenign
Select item 707446	NM_015512.5(DNAH1):c.5289G>A (p.Ser1763=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 544634	NM_015512.5(DNAH1):c.5348G>T (p.Arg1783Leu)	DNAH1 (R1783L)	Single nucleotide variant (missense variant)	DNAH1-related disorder +3 more	GUncertain significance
Select item 712751	NM_015512.5(DNAH1):c.5418C>T (p.Ser1806=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GBenign/Likely benign
Select item 2161526	NM_015512.5(DNAH1):c.5457C>T (p.Tyr1819=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 724413	NM_015512.5(DNAH1):c.5518+9C>T	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 478462	NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val)	DNAH1 (G1890V)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +3 more	GBenign/Likely benign
Select item 3046597	NM_015512.5(DNAH1):c.5682G>A (p.Glu1894=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 707598	NM_015512.5(DNAH1):c.5690A>G (p.Asn1897Ser)	DNAH1 (N1897S)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GBenign
Select item 2636243	NM_015512.5(DNAH1):c.5765+1G>A	DNAH1	Single nucleotide variant (splice donor variant)	DNAH1-related disorder	GLikely pathogenic
Select item 1971260	NM_015512.5(DNAH1):c.5804C>A (p.Ala1935Asp)	DNAH1 (A1935D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 478467	NM_015512.5(DNAH1):c.5850G>A (p.Pro1950=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 2153057	NM_015512.5(DNAH1):c.6004C>T (p.Arg2002Cys)	DNAH1 (R2002C)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 720073	NM_015512.5(DNAH1):c.6057C>T (p.Ile2019=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 478476	NM_015512.5(DNAH1):c.6293G>A (p.Arg2098His)	DNAH1 (R2098H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +4 more	GConflicting classifications of pathogenicity
Select item 2634550	NM_015512.5(DNAH1):c.6313C>G (p.Pro2105Ala)	DNAH1 (P2105A)	Single nucleotide variant (missense variant)	DNAH1-related disorder	GUncertain significance
Select item 954412	NM_015512.5(DNAH1):c.6343G>A (p.Val2115Met)	DNAH1 (V2115M)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GUncertain significance
Select item 787551	NM_015512.5(DNAH1):c.6474G>A (p.Ala2158=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 478480	NM_015512.5(DNAH1):c.6558T>G (p.Ala2186=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +3 more	GLikely benign
Select item 1122284	NM_015512.5(DNAH1):c.6930C>T (p.Ile2310=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 2634623	NM_015512.5(DNAH1):c.7037dup (p.Gly2348fs)	DNAH1 (G2348fs)	Duplication (frameshift variant)	DNAH1-related disorder	GLikely pathogenic
Select item 2631172	NM_015512.5(DNAH1):c.7031_7032delinsA (p.Gly2344fs)	DNAH1 (G2344fs)	Indel (frameshift variant)	DNAH1-related disorder	GLikely pathogenic
Select item 2080432	NM_015512.5(DNAH1):c.7037C>T (p.Pro2346Leu)	DNAH1 (P2346L)	Single nucleotide variant (missense variant)	DNAH1-related disorder +3 more	GUncertain significance
Select item 2945794	NM_015512.5(DNAH1):c.7144C>T (p.Leu2382=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +2 more	GLikely benign
Select item 544656	NM_015512.5(DNAH1):c.7375G>A (p.Glu2459Lys)	DNAH1 (E2459K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 478491	NM_015512.5(DNAH1):c.7410C>T (p.His2470=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +3 more	GBenign/Likely benign
Select item 3046768	NM_015512.5(DNAH1):c.7659G>A (p.Thr2553=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 767570	NM_015512.5(DNAH1):c.7742A>G (p.Asn2581Ser)	DNAH1 (N2581S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 712712	NM_015512.5(DNAH1):c.7794C>T (p.Leu2598=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +3 more	GBenign/Likely benign
Select item 3040687	NM_015512.5(DNAH1):c.7800G>A (p.Ser2600=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 2634722	NM_015512.5(DNAH1):c.7849G>A (p.Gly2617Ser)	DNAH1 (G2617S)	Single nucleotide variant (missense variant)	DNAH1-related disorder	GUncertain significance
Select item 544658	NM_015512.5(DNAH1):c.7923C>T (p.Phe2641=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 3057789	NM_015512.5(DNAH1):c.8085G>A (p.Lys2695=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 750889	NM_015512.5(DNAH1):c.8370C>T (p.Ile2790=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +1 more	GLikely benign
Select item 1375662	NM_015512.5(DNAH1):c.8434C>T (p.His2812Tyr)	DNAH1 (H2812Y)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GUncertain significance
Select item 748099	NM_015512.5(DNAH1):c.8518C>T (p.Leu2840=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 784801	NM_015512.5(DNAH1):c.8607C>T (p.Leu2869=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 707489	NM_015512.5(DNAH1):c.8630A>T (p.Asp2877Val)	DNAH1 (D2877V)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 3059529	NM_015512.5(DNAH1):c.8689G>A (p.Glu2897Lys)	DNAH1 (E2897K)	Single nucleotide variant (missense variant)	DNAH1-related disorder	GUncertain significance
Select item 2636635	NM_015512.5(DNAH1):c.8747C>T (p.Ala2916Val)	DNAH1 (A2916V)	Single nucleotide variant (missense variant)	DNAH1-related disorder	GUncertain significance
Select item 478504	NM_015512.5(DNAH1):c.8765C>T (p.Ala2922Val)	DNAH1 (A2922V)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GBenign/Likely benign
Select item 478506	NM_015512.5(DNAH1):c.8885A>C (p.Lys2962Thr)	DNAH1 (K2962T)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +3 more	GConflicting classifications of pathogenicity
Select item 1416117	NM_015512.5(DNAH1):c.9302A>G (p.Lys3101Arg)	DNAH1 (K3101R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 478511	NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp)	DNAH1 (R3115W)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +3 more	GConflicting classifications of pathogenicity
Select item 478512	NM_015512.5(DNAH1):c.9440T>A (p.Ile3147Asn)	DNAH1 (I3147N)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +2 more	GLikely benign
Select item 2628810	NM_015512.5(DNAH1):c.9509C>T (p.Thr3170Met)	DNAH1 (T3170M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 772251	NM_015512.5(DNAH1):c.9588G>A (p.Thr3196=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 544657	NM_015512.5(DNAH1):c.9935C>T (p.Thr3312Met)	DNAH1 (T3312M)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GBenign/Likely benign
Select item 731476	NM_015512.5(DNAH1):c.10052+10C>G	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 783169	NM_015512.5(DNAH1):c.10080G>C (p.Gln3360His)	DNAH1 (Q3360H)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GBenign
Select item 707280	NM_015512.5(DNAH1):c.10173G>A (p.Glu3391=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder +2 more	GLikely benign
Select item 544600	NM_015512.5(DNAH1):c.10278+3C>G	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 478384	NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val)	DNAH1 (I3480V)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +4 more	GConflicting classifications of pathogenicity
Select item 1363923	NM_015512.5(DNAH1):c.10448C>T (p.Ser3483Leu)	DNAH1 (S3483L)	Single nucleotide variant (missense variant)	DNAH1-related disorder +2 more	GUncertain significance
Select item 2632462	NM_015512.5(DNAH1):c.10627-1_10627delinsTT	DNAH1	Indel (splice acceptor variant)	DNAH1-related disorder	GLikely pathogenic
Select item 1132433	NM_015512.5(DNAH1):c.10698G>A (p.Leu3566=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +2 more	GLikely benign

<< First< Prev

Page of 2