"Ambry Genetics"[submitter] AND "DNAH5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1771389	NM_001369.3(DNAH5):c.13863T>C (p.Cys4621=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1771349	NM_001369.3(DNAH5):c.13844G>C (p.Arg4615Pro)	DNAH5 (R4615P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1666621	NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met)	DNAH5 (V4613M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 238964	NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)	DNAH5 (R4592Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1066064	NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)	DNAH5 (R4592*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 525409	NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys)	DNAH5 (Y4582C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 1151575	NM_001369.3(DNAH5):c.13719C>T (p.Asn4573=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2038894	NM_001369.3(DNAH5):c.13718A>G (p.Asn4573Ser)	DNAH5 (N4573S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2213693	NM_001369.3(DNAH5):c.13699A>T (p.Ile4567Leu)	DNAH5 (I4567L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 525337	NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe)	DNAH5 (L4563F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1770896	NM_001369.3(DNAH5):c.13643G>A (p.Arg4548Lys)	DNAH5 (R4548K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2451387	NM_001369.3(DNAH5):c.13632C>T (p.Gly4544=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2257943	NM_001369.3(DNAH5):c.13625G>A (p.Gly4542Asp)	DNAH5 (G4542D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2586224	NM_001369.3(DNAH5):c.13570G>A (p.Asp4524Asn)	DNAH5 (D4524N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 1770661	NM_001369.3(DNAH5):c.13548A>C (p.Glu4516Asp)	DNAH5 (E4516D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 937349	NM_001369.3(DNAH5):c.13540T>C (p.Cys4514Arg)	DNAH5 (C4514R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2254660	NM_001369.3(DNAH5):c.13519G>C (p.Ala4507Pro)	DNAH5 (A4507P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770518	NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)	DNAH5 (M4495I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 238963	NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 1607793	NM_001369.3(DNAH5):c.13449G>A (p.Thr4483=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 454744	NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)	DNAH5 (T4483M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2278444	NM_001369.3(DNAH5):c.13412G>T (p.Trp4471Leu)	DNAH5 (W4471L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770277	NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)	DNAH5 (I4462T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 178740	NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 163132	NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val)	DNAH5 (I4450V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1067811	NM_001369.3(DNAH5):c.13338+1G>C	DNAH5	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1770191	NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter)	DNAH5 (W4444*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2216685	NM_001369.3(DNAH5):c.13301G>A (p.Cys4434Tyr)	DNAH5 (C4434Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 238962	NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)	DNAH5 (R4429Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1770004	NM_001369.3(DNAH5):c.13269C>G (p.Ile4423Met)	DNAH5 (I4423M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1101673	NM_001369.3(DNAH5):c.13254T>C (p.Ile4418=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2451391	NM_001369.3(DNAH5):c.13252A>G (p.Ile4418Val)	DNAH5 (I4418V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1920025	NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His)	DNAH5 (R4408H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 978482	NM_001369.3(DNAH5):c.13194C>T (p.Asp4398=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 454741	NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)	DNAH5 (F4392C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 407243	NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu)	DNAH5 (F4392L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 351005	NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1769664	NM_001369.3(DNAH5):c.13112A>G (p.Tyr4371Cys)	DNAH5 (Y4371C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 351006	NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)	DNAH5 (R4358W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
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 351007	NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)	DNAH5 (A4357G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 215492	NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 568028	NM_001369.3(DNAH5):c.13060del (p.Ala4354fs)	DNAH5 (A4354fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 2221228	NM_001369.3(DNAH5):c.13055G>A (p.Arg4352Gln)	DNAH5 (R4352Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1769236	NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)	DNAH5 (Q4325H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1769173	NM_001369.3(DNAH5):c.12944G>A (p.Gly4315Glu)	DNAH5 (G4315E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 238961	NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys)	DNAH5 (Y4308C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 640048	NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)	DNAH5 (T4294A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 407258	NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn)	DNAH5 (S4293N)	Single nucleotide variant (missense variant)	DNAH5-related condition +1 more	GLikely benign
Select item 1768818	NM_001369.3(DNAH5):c.12858_12863delinsGTAAAAT (p.Tyr4287_Asn4288delinsTer)	DNAH5	Indel (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1601963	NM_001369.3(DNAH5):c.12837A>G (p.Pro4279=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 351011	NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr)	DNAH5 (M4245T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 971846	NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)	DNAH5 (R4243C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1765286	NM_001369.3(DNAH5):c.12709G>A (p.Val4237Ile)	DNAH5 (V4237I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 226592	NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 454738	NM_001369.3(DNAH5):c.12694G>A (p.Asp4232Asn)	DNAH5 (D4232N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 257997	NM_001369.3(DNAH5):c.12690C>T (p.Asp4230=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1764527	NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)	DNAH5 (D4229N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
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 1763739	NM_001369.3(DNAH5):c.12645G>A (p.Ala4215=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2163977	NM_001369.3(DNAH5):c.12644C>T (p.Ala4215Val)	DNAH5 (A4215V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 557901	NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)	DNAH5 (W4206*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
Select item 238960	NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)	DNAH5 (V4175M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2272726	NM_001369.3(DNAH5):c.12513C>G (p.Asp4171Glu)	DNAH5 (D4171E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 907179	NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)	DNAH5 (D4171E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 907180	NM_001369.3(DNAH5):c.12502G>A (p.Val4168Ile)	DNAH5 (V4168I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1759883	NM_001369.3(DNAH5):c.12480A>T (p.Gly4160=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 977577	NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln)	DNAH5 (R4158Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 238959	NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)	DNAH5 (R4158W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 178742	NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +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 454736	NM_001369.3(DNAH5):c.12426C>T (p.Leu4142=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2329810	NM_001369.3(DNAH5):c.12419T>C (p.Ile4140Thr)	DNAH5 (I4140T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758373	NM_001369.3(DNAH5):c.12415C>G (p.Pro4139Ala)	DNAH5 (P4139A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1138929	NM_001369.3(DNAH5):c.12414T>C (p.Phe4138=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 219652	NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)	DNAH5 (R4127C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 238958	NM_001369.3(DNAH5):c.12375G>A (p.Ala4125=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 257996	NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)	DNAH5 (H4123Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2542064	NM_001369.3(DNAH5):c.12353A>G (p.Glu4118Gly)	DNAH5 (E4118G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 414351	NM_001369.3(DNAH5):c.12349A>G (p.Ile4117Val)	DNAH5 (I4117V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 257995	NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val)	DNAH5 (I4116V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1754431	NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 2371896	NM_001369.3(DNAH5):c.12275C>T (p.Ala4092Val)	DNAH5 (A4092V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754389	NM_001369.3(DNAH5):c.12270C>T (p.Thr4090=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2238336	NM_001369.3(DNAH5):c.12251G>T (p.Arg4084Leu)	DNAH5 (R4084L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1017090	NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp)	DNAH5 (R4084W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 1753739	NM_001369.3(DNAH5):c.12241G>A (p.Val4081Ile)	DNAH5 (V4081I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2329906	NM_001369.3(DNAH5):c.12230A>G (p.Gln4077Arg)	DNAH5 (Q4077R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753330	NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)	DNAH5 (M4075V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 905788	NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)	DNAH5 (V4073M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 228608	NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)	DNAH5 (T4070I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 991997	NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1123516	NM_001369.3(DNAH5):c.12171T>C (p.Asp4057=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1149094	NM_001369.3(DNAH5):c.12165C>A (p.Pro4055=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1574546	NM_001369.3(DNAH5):c.12147G>C (p.Leu4049=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 695188	NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity

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