DNAH5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 907849	NM_001369.3(DNAH5):c.*1652C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350902	NM_001369.3(DNAH5):c.*1613G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 907850	NM_001369.3(DNAH5):c.*1591T>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GBenign
Select item 350903	NM_001369.3(DNAH5):c.*1506G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350904	NM_001369.3(DNAH5):c.*1502C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GLikely benign
Select item 350905	NM_001369.3(DNAH5):c.*1389C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GLikely benign
Select item 350906	NM_001369.3(DNAH5):c.*1361G>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350907	NM_001369.3(DNAH5):c.*1342T>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 904535	NM_001369.3(DNAH5):c.*1298T>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350908	NM_001369.3(DNAH5):c.*1156C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GLikely benign
Select item 350909	NM_001369.3(DNAH5):c.*1119T>C	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350910	NM_001369.3(DNAH5):c.*1048A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GBenign
Select item 904536	NM_001369.3(DNAH5):c.*920A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 904537	NM_001369.3(DNAH5):c.*891A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 905325	NM_001369.3(DNAH5):c.*883T>C	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350911	NM_001369.3(DNAH5):c.*802A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 905326	NM_001369.3(DNAH5):c.*775G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GBenign
Select item 905327	NM_001369.3(DNAH5):c.*697A>G	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350912	NM_001369.3(DNAH5):c.*649G>C	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GBenign
Select item 350913	NM_001369.3(DNAH5):c.*563G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350914	NM_001369.3(DNAH5):c.*445G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 905328	NM_001369.3(DNAH5):c.*427G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350915	NM_001369.3(DNAH5):c.*426C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906932	NM_001369.3(DNAH5):c.*355G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906933	NM_001369.3(DNAH5):c.*349G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906934	NM_001369.3(DNAH5):c.*305C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906935	NM_001369.3(DNAH5):c.*291G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906936	NM_001369.3(DNAH5):c.*281T>C	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 906937	NM_001369.3(DNAH5):c.*100G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350916	NM_001369.3(DNAH5):c.*92G>A	DNAH5	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 907915	NM_001369.3(DNAH5):c.*84C>T	DNAH5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 583675	NC_000005.9:g.(?_13692073)_(13692264_?)dup	DNAH5	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 3004242	NM_001369.3(DNAH5):c.13869C>G (p.Val4623=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 1994615	NM_001369.3(DNAH5):c.13862G>C (p.Cys4621Ser)	DNAH5 (C4621S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454747	NM_001369.3(DNAH5):c.13862G>A (p.Cys4621Tyr)	DNAH5 (C4621Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2039559	NM_001369.3(DNAH5):c.13849G>T (p.Val4617Phe)	DNAH5 (V4617F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 238965	NM_001369.3(DNAH5):c.13843C>T (p.Arg4615Cys)	DNAH5 (R4615C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083984	NM_001369.3(DNAH5):c.13840C>T (p.Leu4614Phe)	DNAH5 (L4614F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2019670	NM_001369.3(DNAH5):c.13839G>A (p.Val4613=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 1534151	NM_001369.3(DNAH5):c.13827T>C (p.Pro4609=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2194516	NM_001369.3(DNAH5):c.13825C>G (p.Pro4609Ala)	DNAH5 (P4609A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 350917	NM_001369.3(DNAH5):c.13825C>A (p.Pro4609Thr)	DNAH5 (P4609T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 350918	NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)	DNAH5 (A4606D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2781399	NM_001369.3(DNAH5):c.13807C>T (p.Leu4603Phe)	DNAH5 (L4603F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2982071	NM_001369.3(DNAH5):c.13804G>T (p.Asp4602Tyr)	DNAH5 (D4602Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022330	NM_001369.3(DNAH5):c.13798G>T (p.Ala4600Ser)	DNAH5 (A4600S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1358613	NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr)	DNAH5 (A4600T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1095044	NM_001369.3(DNAH5):c.13797C>T (p.Ala4599=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3018059	NM_001369.3(DNAH5):c.13791C>T (p.Tyr4597=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1101669	NM_001369.3(DNAH5):c.13779G>C (p.Thr4593=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 525489	NM_001369.3(DNAH5):c.13779G>A (p.Thr4593=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 219653	NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)	DNAH5 (T4593M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 1370366	NM_001369.3(DNAH5):c.13775G>C (p.Arg4592Pro)	DNAH5 (R4592P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 238964	NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)	DNAH5 (R4592Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1979994	NM_001369.3(DNAH5):c.13774C>A (p.Arg4592=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 1137818	NM_001369.3(DNAH5):c.13773T>G (p.Val4591=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 990998	NM_001369.3(DNAH5):c.13765A>G (p.Lys4589Glu)	DNAH5 (K4589E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454746	NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)	DNAH5 (Y4587C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2008808	NM_001369.3(DNAH5):c.13753C>T (p.Pro4585Ser)	DNAH5 (P4585S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 598309	NM_001369.3(DNAH5):c.13753C>A (p.Pro4585Thr)	DNAH5 (P4585T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886757	NM_001369.3(DNAH5):c.13749C>T (p.Ser4583=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1083940	NM_001369.3(DNAH5):c.13749C>G (p.Ser4583=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 350919	NM_001369.3(DNAH5):c.13747T>C (p.Ser4583Pro)	DNAH5 (S4583P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1456645	NM_001369.3(DNAH5):c.13746C>A (p.Tyr4582Ter)	DNAH5 (Y4582*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 990999	NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
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 2905074	NM_001369.3(DNAH5):c.13740G>A (p.Arg4580=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1989117	NM_001369.3(DNAH5):c.13738C>T (p.Arg4580Trp)	DNAH5 (R4580W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1357084	NM_001369.3(DNAH5):c.13736C>T (p.Pro4579Leu)	DNAH5 (P4579L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 907916	NM_001369.3(DNAH5):c.13734T>C (p.Asp4578=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2160128	NM_001369.3(DNAH5):c.13729C>T (p.Arg4577Ter)	DNAH5 (R4577*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2802250	NM_001369.3(DNAH5):c.13724-4G>A	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1639734	NM_001369.3(DNAH5):c.13724-5dup	DNAH5	Duplication (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 258002	NM_001369.3(DNAH5):c.13724-7T>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2112720	NM_001369.3(DNAH5):c.13724-10T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2986802	NM_001369.3(DNAH5):c.13724-11G>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3014264	NM_001369.3(DNAH5):c.13724-12T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2890560	NM_001369.3(DNAH5):c.13724-13A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2883084	NM_001369.3(DNAH5):c.13724-13A>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2733266	NM_001369.3(DNAH5):c.13724-18_13724-14del	DNAH5	Microsatellite (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1537006	NM_001369.3(DNAH5):c.13724-17T>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3012414	NM_001369.3(DNAH5):c.13724-19T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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 2857789	NM_001369.3(DNAH5):c.13723+15A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2837238	NM_001369.3(DNAH5):c.13723+11T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
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	GConflicting classifications of pathogenicity
Select item 848221	NM_001369.3(DNAH5):c.13714G>A (p.Glu4572Lys)	DNAH5 (E4572K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2730576	NM_001369.3(DNAH5):c.13713A>G (p.Ala4571=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2165384	NM_001369.3(DNAH5):c.13704G>C (p.Arg4568Ser)	DNAH5 (R4568S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1924951	NM_001369.3(DNAH5):c.13704G>A (p.Arg4568=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2107661	NM_001369.3(DNAH5):c.13701A>C (p.Ile4567=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2213693	NM_001369.3(DNAH5):c.13699A>T (p.Ile4567Leu)	DNAH5 (I4567L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1399992	NM_001369.3(DNAH5):c.13699A>G (p.Ile4567Val)	DNAH5 (I4567V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2151071	NM_001369.3(DNAH5):c.13697T>C (p.Val4566Ala)	DNAH5 (V4566A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign

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