"GeneDx"[submitter] AND "DNAH5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59604	GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1	ANKH, BASP1 +142 more	Copy number loss	See cases	GPathogenic
Select item 219653	NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)	DNAH5 (T4593M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 258001	NM_001369.3(DNAH5):c.13724-35T>A	DNAH5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1262142	NM_001369.3(DNAH5):c.13723+31C>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303413	NM_001369.3(DNAH5):c.13638C>G (p.Asp4546Glu)	DNAH5 (D4546E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260490	NM_001369.3(DNAH5):c.13492-85C>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290465	NM_001369.3(DNAH5):c.13492-187T>C	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264369	NM_001369.3(DNAH5):c.13492-187T>G	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174030	NM_001369.3(DNAH5):c.13491+66T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GBenign
Select item 258000	NM_001369.3(DNAH5):c.13491+37A>G	DNAH5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 407248	NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)	DNAH5 (R4496*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 226595	NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)	DNAH5 (P4488T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 350995	NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	DNAH5 (N4487*)	Duplication (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 941715	NM_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter)	DNAH5 (W4481*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 905606	NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)	DNAH5 (G4455D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 178740	NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163132	NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val)	DNAH5 (I4450V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1267181	NM_001369.3(DNAH5):c.13339-84dup	DNAH5	Duplication (intron variant)	not provided	GBenign
Select item 1289790	NM_001369.3(DNAH5):c.13339-73del	DNAH5	Deletion (intron variant)	not provided	GBenign
Select item 1178145	NM_001369.3(DNAH5):c.13339-109A>G	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231467	NM_001369.3(DNAH5):c.13339-154C>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216786	NM_001369.3(DNAH5):c.13338+218G>A	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 257999	NM_001369.3(DNAH5):c.13338+16C>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 238962	NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)	DNAH5 (R4429Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 257998	NM_001369.3(DNAH5):c.13126-39G>A	DNAH5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1276547	NM_001369.3(DNAH5):c.13126-152dup	DNAH5	Duplication (intron variant)	not provided	GBenign
Select item 1226128	NM_001369.3(DNAH5):c.13126-142del	DNAH5	Deletion (intron variant)	not provided	GBenign
Select item 226593	NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 970199	NM_001369.3(DNAH5):c.12958G>A (p.Ala4320Thr)	DNAH5 (A4320T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 163133	NM_001369.3(DNAH5):c.12910-11C>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 1210758	NM_001369.3(DNAH5):c.12909+204G>A	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1678859	NM_001369.3(DNAH5):c.12909+135G>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226592	NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1280796	NM_001369.3(DNAH5):c.12706-219C>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 178741	NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala)	DNAH5 (T4220A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1280691	NM_001369.3(DNAH5):c.12500-194T>G	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262348	NM_001369.3(DNAH5):c.12499+260_12499+263del	DNAH5	Microsatellite (intron variant)	not provided	GBenign
Select item 1678858	NM_001369.3(DNAH5):c.12499+184G>A	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 238959	NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)	DNAH5 (R4158W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 178742	NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 525508	NM_001369.3(DNAH5):c.12465A>G (p.Gln4155=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1309277	NM_001369.3(DNAH5):c.12413T>G (p.Phe4138Cys)	DNAH5 (F4138C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 178743	NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val)	DNAH5 (A4134V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1506945	NM_001369.3(DNAH5):c.12380G>A (p.Arg4127His)	DNAH5 (R4127H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817933	NM_001369.3(DNAH5):c.12295del (p.Leu4099fs)	DNAH5 (L4099fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1183922	NM_001369.3(DNAH5):c.12280-224T>G	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296918	NM_001369.3(DNAH5):c.12279+139dup	DNAH5	Duplication (intron variant)	not provided	GBenign
Select item 1278419	NM_001369.3(DNAH5):c.12279+129dup	DNAH5	Duplication (intron variant)	not provided	GBenign
Select item 407227	NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)	DNAH5 (Q4089*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1973362	NM_001369.3(DNAH5):c.12212G>A (p.Arg4071His)	DNAH5 (R4071H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2140315	NM_001369.3(DNAH5):c.12037C>T (p.Arg4013Cys)	DNAH5 (R4013C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 257989	NM_001369.3(DNAH5):c.12034-24T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +2 more	GBenign
Select item 1250911	NM_001369.3(DNAH5):c.12033+266T>A	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 226591	NM_001369.3(DNAH5):c.12033+7A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 1282212	NM_001369.3(DNAH5):c.11884-237T>C	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190819	NM_001369.3(DNAH5):c.11883+66T>A	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 966856	NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr)	DNAH5 (S3935T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 257985	NM_001369.3(DNAH5):c.11762-45T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +2 more	GBenign
Select item 1269209	NM_001369.3(DNAH5):c.11762-97_11762-95del	DNAH5	Microsatellite (intron variant)	not provided	GBenign
Select item 1219812	NM_001369.3(DNAH5):c.11762-283G>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174031	NM_001369.3(DNAH5):c.11761+93G>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GBenign
Select item 381547	NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)	DNAH5 (S3861R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 257980	NM_001369.3(DNAH5):c.11570+35A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +2 more	GBenign
Select item 579419	NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)	DNAH5 (L3826F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 1225492	NM_001369.3(DNAH5):c.11455+308T>C	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260540	NM_001369.3(DNAH5):c.11455+303G>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 228606	NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)	DNAH5 (R3813W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 639968	NM_001369.3(DNAH5):c.11401A>G (p.Ile3801Val)	DNAH5 (I3801V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 178744	NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile)	LOC107457585, DNAH5 (T3791I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1180965	NM_001369.3(DNAH5):c.11212-96T>C	DNAH5, LOC107457585	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264661	NM_001369.3(DNAH5):c.11211+289T>C	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242274	NM_001369.3(DNAH5):c.11211+256C>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236997	NM_001369.3(DNAH5):c.11211+212A>G	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220332	NM_001369.3(DNAH5):c.11028+52G>A	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 546373	NM_001369.3(DNAH5):c.11018C>T (p.Ser3673Phe)	DNAH5 (S3673F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259506	NM_001369.3(DNAH5):c.10873-263A>G	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265890	NM_001369.3(DNAH5):c.10872+174A>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255330	NM_001369.3(DNAH5):c.10872+151T>C	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 65636	NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	DNAH5 (P3606fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 216542	NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His)	DNAH5 (R3539H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1211334	NM_001369.3(DNAH5):c.10556-46A>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276399	NM_001369.3(DNAH5):c.10556-326T>A	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 163136	NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 265361	NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)	DNAH5 (R3481*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 936159	NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)	DNAH5 (A3479T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 372620	NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg)	DNAH5 (K3472R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2020021	NM_001369.3(DNAH5):c.10396G>A (p.Glu3466Lys)	DNAH5 (E3466K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1266513	NM_001369.3(DNAH5):c.10282-81del	DNAH5	Deletion (intron variant)	not provided	GBenign
Select item 1273920	NM_001369.3(DNAH5):c.10281+118A>G	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254179	NM_001369.3(DNAH5):c.10281+65T>C	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 163137	NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 257971	NM_001369.3(DNAH5):c.10102-29C>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +2 more	GBenign
Select item 1180916	NM_001369.3(DNAH5):c.10101+171C>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 972057	NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)	DNAH5 (M3347I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1277637	NM_001369.3(DNAH5):c.9898-296G>T	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 167002	NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg)	DNAH5 (Q3299R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1800502	NM_001369.3(DNAH5):c.9802G>A (p.Ala3268Thr)	DNAH5 (A3268T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698807	NM_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu)	DNAH5 (K3261E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167003	NM_001369.3(DNAH5):c.9721-12A>T	DNAH5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1241099	NM_001369.3(DNAH5):c.9721-63T>A	DNAH5	Single nucleotide variant (intron variant)	not provided	GBenign

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