ClinVar for MedGen (Select 1617309) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068212	NM_015512.5(DNAH1):c.6065_6066delinsTC (p.Trp2022Phe)	DNAH1 (W2022F)	Indel (missense variant)	Spermatogenic failure 18	GUncertain significance
Select item 2953970	NM_015512.5(DNAH1):c.11331C>T (p.Asn3777=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2953516	NM_015512.5(DNAH1):c.7443G>C (p.Val2481=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2953507	NM_015512.5(DNAH1):c.1831C>T (p.Leu611=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2953025	NM_015512.5(DNAH1):c.3693+4G>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2952920	NM_015512.5(DNAH1):c.7056C>T (p.Thr2352=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2952628	NM_015512.5(DNAH1):c.1286+9C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2952546	NM_015512.5(DNAH1):c.4052C>T (p.Pro1351Leu)	DNAH1 (P1351L)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2952537	NM_015512.5(DNAH1):c.1445-8C>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2952506	NM_015512.5(DNAH1):c.9172-9G>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2952075	NM_015512.5(DNAH1):c.5320A>T (p.Ser1774Cys)	DNAH1 (S1774C)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2952061	NM_015512.5(DNAH1):c.12664C>G (p.Leu4222Val)	DNAH1 (L4222V)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2951819	NM_015512.5(DNAH1):c.7402_7403del (p.Trp2468fs)	DNAH1 (W2468fs)	Microsatellite (frameshift variant)	Spermatogenic failure 18 +1 more	GPathogenic
Select item 2951800	NM_015512.5(DNAH1):c.4644G>A (p.Leu1548=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2951644	NM_015512.5(DNAH1):c.6618C>G (p.Thr2206=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2951526	NM_015512.5(DNAH1):c.11644G>A (p.Gly3882Arg)	DNAH1 (G3882R)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GLikely pathogenic
Select item 2951488	NM_015512.5(DNAH1):c.10455C>T (p.Ile3485=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2951196	NM_015512.5(DNAH1):c.8133C>T (p.His2711=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2951077	NM_015512.5(DNAH1):c.4086+17G>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2951058	NM_015512.5(DNAH1):c.1647C>G (p.Thr549=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2950867	NM_015512.5(DNAH1):c.3888G>C (p.Met1296Ile)	DNAH1 (M1296I)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2950801	NM_015512.5(DNAH1):c.7805+1G>A	DNAH1	Single nucleotide variant (splice donor variant)	Spermatogenic failure 18 +1 more	GLikely pathogenic
Select item 2950359	NM_015512.5(DNAH1):c.9468C>T (p.Gly3156=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2950161	NM_015512.5(DNAH1):c.11611-18CACC[4]	DNAH1	Microsatellite (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2950132	NM_015512.5(DNAH1):c.7199-3del	DNAH1	Deletion (intron variant)	Spermatogenic failure 18 +1 more	GBenign
Select item 2950129	NM_015512.5(DNAH1):c.1017A>T (p.Ala339=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2949882	NM_015512.5(DNAH1):c.11382_11383delinsAT (p.Lys3795Ter)	DNAH1 (K3795*)	Indel (nonsense)	Spermatogenic failure 18 +1 more	GPathogenic
Select item 2949866	NM_015512.5(DNAH1):c.9495+16C>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2949655	NM_015512.5(DNAH1):c.9024G>A (p.Val3008=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2949488	NM_015512.5(DNAH1):c.2121C>T (p.Asp707=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2949325	NM_015512.5(DNAH1):c.10823+2T>C	DNAH1	Single nucleotide variant (splice donor variant)	Spermatogenic failure 18 +1 more	GLikely pathogenic
Select item 2949201	NM_015512.5(DNAH1):c.4497C>T (p.Ala1499=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2949108	NM_015512.5(DNAH1):c.10682C>T (p.Pro3561Leu)	DNAH1 (P3561L)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2949062	NM_015512.5(DNAH1):c.6667-10G>C	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2948933	NM_015512.5(DNAH1):c.797T>C (p.Leu266Ser)	DNAH1 (L266S)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2948790	NM_015512.5(DNAH1):c.6969C>T (p.Tyr2323=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2948553	NM_015512.5(DNAH1):c.6526-10A>G	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2948480	NM_015512.5(DNAH1):c.5232G>A (p.Gln1744=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2948322	NM_015512.5(DNAH1):c.10279-19C>G	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2948315	NM_015512.5(DNAH1):c.11787+19G>C	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2947966	NM_015512.5(DNAH1):c.2300+8del	DNAH1	Deletion (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2947739	NM_015512.5(DNAH1):c.6474G>C (p.Ala2158=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2947628	NM_015512.5(DNAH1):c.11487G>C (p.Leu3829=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2947508	NM_015512.5(DNAH1):c.3183dup (p.Lys1062fs)	DNAH1 (K1062fs)	Duplication (frameshift variant)	Spermatogenic failure 18 +1 more	GPathogenic
Select item 2947105	NM_015512.5(DNAH1):c.2646+10G>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946752	NM_015512.5(DNAH1):c.11787+8C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946735	NM_015512.5(DNAH1):c.6666+11C>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GBenign
Select item 2946644	NM_015512.5(DNAH1):c.2448C>T (p.Ser816=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946581	NM_015512.5(DNAH1):c.10086G>A (p.Val3362=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946508	NM_015512.5(DNAH1):c.9621+19G>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946498	NM_015512.5(DNAH1):c.7736T>C (p.Leu2579Pro)	DNAH1 (L2579P)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2946494	NM_015512.5(DNAH1):c.11595T>C (p.Asp3865=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946488	NM_015512.5(DNAH1):c.7767C>T (p.Gly2589=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946466	NM_015512.5(DNAH1):c.6666+1G>A	DNAH1	Single nucleotide variant (splice donor variant)	Spermatogenic failure 18 +1 more	GLikely pathogenic
Select item 2946263	NM_015512.5(DNAH1):c.5799G>A (p.Ala1933=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2946241	NM_015512.5(DNAH1):c.12124C>T (p.Leu4042=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946136	NM_015512.5(DNAH1):c.10475-4A>G	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946122	NM_015512.5(DNAH1):c.8625+14C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2946047	NM_015512.5(DNAH1):c.6707C>T (p.Thr2236Ile)	DNAH1 (T2236I)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2946005	NM_015512.5(DNAH1):c.12090-19C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2945899	NM_015512.5(DNAH1):c.4686-8T>C	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2945897	NM_015512.5(DNAH1):c.9495+10C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
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 2945782	NM_015512.5(DNAH1):c.5766-16C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2945739	NM_015512.5(DNAH1):c.739-8T>G	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2945719	NM_015512.5(DNAH1):c.407-8A>G	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2945542	NM_015512.5(DNAH1):c.6018G>A (p.Val2006=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2945184	NM_015512.5(DNAH1):c.489G>A (p.Gln163=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2945141	NM_015512.5(DNAH1):c.10008G>A (p.Glu3336=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2944960	NM_015512.5(DNAH1):c.3858+9A>C	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2944870	NM_015512.5(DNAH1):c.5095-14A>C	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2944799	NM_015512.5(DNAH1):c.10126C>T (p.Leu3376=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2944658	NM_015512.5(DNAH1):c.7805+19del	DNAH1	Deletion (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2944365	NM_015512.5(DNAH1):c.8626G>C (p.Val2876Leu)	DNAH1 (V2876L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +1 more	GUncertain significance
Select item 2944324	NM_015512.5(DNAH1):c.9393G>A (p.Val3131=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2944215	NM_015512.5(DNAH1):c.407-19C>T	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2943980	NM_015512.5(DNAH1):c.11364T>C (p.Gly3788=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2943684	NM_015512.5(DNAH1):c.12510C>A (p.Phe4170Leu)	DNAH1 (F4170L)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +1 more	GUncertain significance
Select item 2943554	NM_015512.5(DNAH1):c.6243C>T (p.Pro2081=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2943499	NM_015512.5(DNAH1):c.7981C>T (p.Leu2661=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2943251	NM_015512.5(DNAH1):c.8626-15G>T	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2942974	NM_015512.5(DNAH1):c.2729+7G>A	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2942779	NM_015512.5(DNAH1):c.2042C>A (p.Ala681Glu)	DNAH1 (A681E)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +1 more	GUncertain significance
Select item 2942754	NM_015512.5(DNAH1):c.11418C>T (p.Asn3806=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2942707	NM_015512.5(DNAH1):c.11611-4A>G	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2942535	NM_015512.5(DNAH1):c.6276C>T (p.Pro2092=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2942442	NM_015512.5(DNAH1):c.11959-6C>G	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2942291	NM_015512.5(DNAH1):c.8587del (p.Ala2863fs)	DNAH1 (A2863fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 37 +1 more	GPathogenic
Select item 2941932	NM_015512.5(DNAH1):c.12578C>T (p.Thr4193Ile)	DNAH1 (T4193I)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +1 more	GUncertain significance
Select item 2941751	NM_015512.5(DNAH1):c.124C>A (p.Leu42Ile)	DNAH1 (L42I)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 37 +1 more	GUncertain significance
Select item 2941612	NM_015512.5(DNAH1):c.1394_1396del (p.Phe465del)	DNAH1 (F465del)	Deletion (inframe_deletion)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2941568	NM_015512.5(DNAH1):c.11259+19C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2941522	NM_015512.5(DNAH1):c.9741+12C>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2941481	NM_015512.5(DNAH1):c.9169C>A (p.Arg3057=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2941473	NM_015512.5(DNAH1):c.2301-12T>G	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2941312	NM_015512.5(DNAH1):c.2730-12C>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2941043	NM_015512.5(DNAH1):c.8253G>A (p.Lys2751=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2940991	NM_015512.5(DNAH1):c.5721G>A (p.Thr1907=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2940929	NM_015512.5(DNAH1):c.4571+16G>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2940823	NM_015512.5(DNAH1):c.6985+12C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign

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