C1837618[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258001	NM_001369.3(DNAH5):c.13724-35T>A	DNAH5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 163131	NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)	DNAH5 (D4523E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 163133	NM_001369.3(DNAH5):c.12910-11C>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
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 178743	NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val)	DNAH5 (A4134V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1199264	NM_001369.3(DNAH5):c.12315A>G (p.Gly4105=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 905788	NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)	DNAH5 (V4073M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 904817	NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe)	DNAH5 (I3872F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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 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 1199293	NM_001369.3(DNAH5):c.11465G>A (p.Arg3822Gln)	DNAH5 (R3822Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 525339	NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met)	DNAH5 (T3626M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
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 696990	NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely 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 1199299	NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr)	DNAH5 (A3307T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 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 907484	NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 454817	NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu)	DNAH5 (R3077L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 219734	NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)	DNAH5 (R3000Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 178745	NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe)	DNAH5 (L2862F)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1199298	NM_001369.3(DNAH5):c.8324A>G (p.Gln2775Arg)	DNAH5 (Q2775R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 738333	NM_001369.3(DNAH5):c.8217G>A (p.Lys2739=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1199336	NM_001369.3(DNAH5):c.8168A>T (p.Gln2723Leu)	DNAH5 (Q2723L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 905008	NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile)	DNAH5 (M2627I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1199301	NM_001369.3(DNAH5):c.7748G>T (p.Gly2583Val)	DNAH5 (G2583V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1199260	NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly)	DNAH5 (R2437G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1210398	NM_001369.3(DNAH5):c.5689del (p.Arg1897fs)	DNAH5 (R1897fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 755889	NM_001369.3(DNAH5):c.5616C>T (p.Asp1872=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1199295	NM_001369.3(DNAH5):c.5614G>A (p.Asp1872Asn)	DNAH5 (D1872N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1210397	NM_001369.3(DNAH5):c.5194del (p.Ala1732fs)	DNAH5 (A1732fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 163150	NM_001369.3(DNAH5):c.5114+11T>C	DNAH5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1199296	NM_001369.3(DNAH5):c.4756G>A (p.Glu1586Lys)	DNAH5 (E1586K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1199297	NM_001369.3(DNAH5):c.4704T>C (p.Arg1568=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 525324	NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)	DNAH5 (R1494W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 178750	NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1199294	NM_001369.3(DNAH5):c.4324A>G (p.Ile1442Val)	DNAH5 (I1442V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 258032	NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)	DNAH5 (N1420D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 178751	NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1199261	NM_001369.3(DNAH5):c.4016T>G (p.Leu1339Arg)	DNAH5 (L1339R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 215494	NM_001369.3(DNAH5):c.3835-3del	DNAH5	Deletion (intron variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 163152	NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)	DNAH5 (Q1172K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 163154	NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 454763	NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)	DNAH5 (N1005Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1199263	NM_001369.3(DNAH5):c.2867G>A (p.Arg956His)	DNAH5 (R956H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1199262	NM_001369.3(DNAH5):c.2487T>A (p.Asp829Glu)	DNAH5 (D829E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 258011	NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)	DNAH5 (L815M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GConflicting classifications of pathogenicity
Select item 351202	NM_001369.3(DNAH5):c.2400G>A (p.Glu800=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 178753	NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu)	DNAH5 (I766L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 178754	NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)	DNAH5 (N751K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 351208	NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)	DNAH5 (L572W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1199337	NM_001369.3(DNAH5):c.1405A>G (p.Ile469Val)	DNAH5 (I469V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 188080	NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)	DNAH5 (N402K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GConflicting classifications of pathogenicity
Select item 219733	NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)	DNAH5 (V400M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1199300	NM_001369.3(DNAH5):c.972G>A (p.Leu324=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1210396	NM_001369.3(DNAH5):c.796C>T (p.Gln266Ter)	DNAH5 (Q266*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 178758	NM_001369.3(DNAH5):c.624C>T (p.Asn208=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 163161	NM_001369.3(DNAH5):c.192+14C>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163159	NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu)	DNAH5 (G24E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 178760	NM_001369.3(DNAH5):c.36T>G (p.His12Gln)	DNAH5 (H12Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65