Related gene-specific medical variations for Gene (Select 1767) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 215

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382806	NM_001369.3(DNAH5):c.4985G>A (p.Trp1662Ter)	DNAH5 (W1662*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GPathogenic
Select item 3382805	NM_001369.3(DNAH5):c.5926G>A (p.Gly1976Arg)	DNAH5 (G1976R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 3374755	NM_001369.3(DNAH5):c.817C>T (p.Gln273Ter)	DNAH5 (Q273*)	Single nucleotide variant (nonsense)	Respiratory ciliopathies including non-CF bronchiectasis	GPathogenic
Select item 3365454	NM_001369.3(DNAH5):c.4930A>G (p.Ile1644Val)	DNAH5, LOC126807318 (I1644V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362722	NM_001369.3(DNAH5):c.7636A>T (p.Thr2546Ser)	DNAH5 (T2546S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 3362417	NM_001369.3(DNAH5):c.4225C>G (p.Leu1409Val)	DNAH5 (L1409V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 3362416	NM_001369.3(DNAH5):c.5272-16_5272-15dup	DNAH5	Duplication (intron variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 3246271	NC_000005.9:g.(?_13716776)_(13717798_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246270	NC_000005.9:g.(?_13773108)_(13786393_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3246269	NC_000005.9:g.(?_13864596)_(13874796_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246268	NC_000005.9:g.(?_13781021)_(13781991_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3246267	NC_000005.9:g.(?_13814806)_(13816871_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246265	NC_000005.9:g.(?_13700739)_(13763020_?)dup	DNAH5	Duplication	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3246264	NC_000005.9:g.(?_13928183)_(13928307_?)dup	DNAH5	Duplication	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3246263	NC_000005.9:g.(?_13769049)_(13769744_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246262	NC_000005.9:g.(?_13769049)_(13771109_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246261	NC_000005.9:g.(?_13793604)_(13794187_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246260	NC_000005.9:g.(?_13692093)_(13923569_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246259	NC_000005.9:g.(?_13807680)_(13845122_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246258	NC_000005.9:g.(?_13839445)_(13845122_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246257	NC_000005.9:g.(?_13859541)_(13866035_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246256	NC_000005.9:g.(?_13692093)_(13931373_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246254	NC_000005.9:g.(?_13900295)_(13901702_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246253	NC_000005.9:g.(?_13792083)_(13792346_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246252	NC_000005.9:g.(?_13820435)_(13820628_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3246251	NC_000005.9:g.(?_13850741)_(13850944_?)del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 3068208	NM_001369.3(DNAH5):c.9245T>C (p.Leu3082Pro)	DNAH5 (L3082P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 3067821	NM_001369.3(DNAH5):c.1320+1G>A	DNAH5	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 3020682	NM_001369.3(DNAH5):c.4850A>G (p.Asn1617Ser)	DNAH5, LOC126807318 (N1617S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3015171	NM_001369.3(DNAH5):c.4797-13T>C	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3011448	NM_001369.3(DNAH5):c.4797-17C>T	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3003903	NM_001369.3(DNAH5):c.4797-12T>G	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2979535	NM_001369.3(DNAH5):c.4950+16T>G	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2979396	NM_001369.3(DNAH5):c.4797-13T>G	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2971455	NM_001369.3(DNAH5):c.4936A>T (p.Lys1646Ter)	DNAH5, LOC126807318 (K1646*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2962197	NM_001369.3(DNAH5):c.4950+13T>A	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2960806	NM_001369.3(DNAH5):c.11295T>C (p.Leu3765=)	DNAH5, LOC107457585	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2917320	NM_001369.3(DNAH5):c.4830A>G (p.Lys1610=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2911615	NM_001369.3(DNAH5):c.4797-18A>G	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2906211	NM_001369.3(DNAH5):c.11268G>A (p.Arg3756=)	LOC107457585, DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2904317	NM_001369.3(DNAH5):c.4950+14_4950+16del	DNAH5, LOC126807318	Microsatellite (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2903325	NM_001369.3(DNAH5):c.4950+17del	DNAH5, LOC126807318	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2903101	NM_001369.3(DNAH5):c.4827A>G (p.Gln1609=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2896972	NM_001369.3(DNAH5):c.11334T>C (p.Asp3778=)	DNAH5, LOC107457585	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2869809	NM_001369.3(DNAH5):c.4950+18A>G	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2856743	NM_001369.3(DNAH5):c.11212-12G>T	DNAH5, LOC107457585	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2848373	NM_001369.3(DNAH5):c.11214A>G (p.Glu3738=)	DNAH5, LOC107457585	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2828938	NM_001369.3(DNAH5):c.4818C>T (p.Ala1606=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2798896	NM_001369.3(DNAH5):c.11271G>A (p.Met3757Ile)	DNAH5, LOC107457585 (M3757I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2776196	NM_001369.3(DNAH5):c.4932T>C (p.Ile1644=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2767989	NM_001369.3(DNAH5):c.4797-16C>A	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2745260	NM_001369.3(DNAH5):c.4947C>A (p.Pro1649=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2732132	NM_001369.3(DNAH5):c.4797-12T>A	DNAH5, LOC126807318	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2719692	NM_001369.3(DNAH5):c.11239A>T (p.Met3747Leu)	DNAH5, LOC107457585 (M3747L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2718235	NM_001369.3(DNAH5):c.4824T>A (p.Ile1608=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2690592	NM_001369.3(DNAH5):c.3774del (p.Ala1259fs)	DNAH5 (A1259fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 2665069	NM_001369.3(DNAH5):c.2260-2552G>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2556345	NM_001369.3(DNAH5):c.4866C>G (p.Ile1622Met)	DNAH5, LOC126807318 (I1622M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2539545	NM_001369.3(DNAH5):c.11297A>G (p.Tyr3766Cys)	DNAH5, LOC107457585 (Y3766C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2504801	NM_001369.3(DNAH5):c.4925G>T (p.Gly1642Val)	DNAH5, LOC126807318 (G1642V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502279	NM_001369.3(DNAH5):c.13338+5G>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 2440917	NM_001369.3(DNAH5):c.2432-3A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2440916	NM_001369.3(DNAH5):c.11005A>C (p.Ile3669Leu)	DNAH5 (I3669L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2440915	NM_001369.3(DNAH5):c.3202G>T (p.Ala1068Ser)	DNAH5 (A1068S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2440913	NM_001369.3(DNAH5):c.2780C>T (p.Ser927Leu)	DNAH5 (S927L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2439879	NM_001369.3(DNAH5):c.2518_2519del (p.Cys841fs)	DNAH5 (C841fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 2439865	NM_001369.3(DNAH5):c.1344_1348del (p.Gln451fs)	DNAH5 (Q451fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 2439863	NM_001369.3(DNAH5):c.10555+1G>T	DNAH5	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 2435945	NM_001369.3(DNAH5):c.931_934del (p.Ala311fs)	DNAH5 (A311fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 2305889	NM_001369.3(DNAH5):c.11227A>G (p.Arg3743Gly)	DNAH5, LOC107457585 (R3743G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2227098	NM_001369.3(DNAH5):c.11350G>T (p.Val3784Leu)	DNAH5, LOC107457585 (V3784L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2187349	NM_001369.3(DNAH5):c.11300G>T (p.Arg3767Leu)	DNAH5, LOC107457585 (R3767L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2182632	NM_001369.3(DNAH5):c.4802A>G (p.Asn1601Ser)	DNAH5, LOC126807318 (N1601S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2169320	NM_001369.3(DNAH5):c.11259C>T (p.Asn3753=)	DNAH5, LOC107457585	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2152477	NM_001369.3(DNAH5):c.11350G>A (p.Val3784Met)	DNAH5, LOC107457585 (V3784M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2146279	NM_001369.3(DNAH5):c.11245G>T (p.Asp3749Tyr)	DNAH5, LOC107457585 (D3749Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2139248	NM_001369.3(DNAH5):c.11333A>G (p.Asp3778Gly)	DNAH5, LOC107457585 (D3778G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2113195	NM_001369.3(DNAH5):c.11247T>C (p.Asp3749=)	DNAH5, LOC107457585	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2053913	NM_001369.3(DNAH5):c.11299C>T (p.Arg3767Cys)	LOC107457585, DNAH5 (R3767C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2041289	NM_001369.3(DNAH5):c.11212-6T>G	DNAH5, LOC107457585	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2035319	NM_001369.3(DNAH5):c.4812C>T (p.Phe1604=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2030158	NM_001369.3(DNAH5):c.4942C>T (p.Leu1648=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2018464	NM_001369.3(DNAH5):c.11229A>G (p.Arg3743=)	DNAH5, LOC107457585	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1984084	NM_001369.3(DNAH5):c.11248G>A (p.Val3750Ile)	DNAH5, LOC107457585 (V3750I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1970175	NM_001369.3(DNAH5):c.4866C>A (p.Ile1622=)	DNAH5, LOC126807318	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1969488	NM_001369.3(DNAH5):c.11304G>A (p.Leu3768=)	DNAH5, LOC107457585	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1923909	NM_001369.3(DNAH5):c.4950+15_4950+17del	DNAH5, LOC126807318	Deletion (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1743745	NM_001369.3(DNAH5):c.4875G>C (p.Trp1625Cys)	DNAH5, LOC126807318 (W1625C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1743648	NM_001369.3(DNAH5):c.4861A>G (p.Ile1621Val)	DNAH5, LOC126807318 (I1621V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1729482	NM_001369.3(DNAH5):c.11357G>A (p.Ser3786Asn)	DNAH5, LOC107457585 (S3786N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1728355	NM_001369.3(DNAH5):c.11315A>T (p.Gln3772Leu)	DNAH5, LOC107457585 (Q3772L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1726763	NM_001369.3(DNAH5):c.4922del (p.Gly1641fs)	DNAH5, LOC126807318 (G1641fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726572	NM_001369.3(DNAH5):c.4896G>A (p.Trp1632Ter)	DNAH5, LOC126807318 (W1632*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
Select item 1726317	NM_001369.3(DNAH5):c.4814_4817delinsCAGGTTTTGCACCGTCAT (p.Lys1605fs)	DNAH5, LOC126807318 (K1605fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726166	NM_001369.3(DNAH5):c.4846dup (p.Ser1616fs)	DNAH5, LOC126807318 (S1616fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725960	NM_001369.3(DNAH5):c.4834del (p.Val1612fs)	DNAH5, LOC126807318 (V1612fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725379	NM_001369.3(DNAH5):c.4830del (p.Lys1610fs)	DNAH5, LOC126807318 (K1610fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725155	NM_001369.3(DNAH5):c.4874G>A (p.Trp1625Ter)	DNAH5, LOC126807318 (W1625*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724623	NM_001369.3(DNAH5):c.11344_11345insGCAGCAC (p.Ile3782fs)	DNAH5, LOC107457585 (I3782fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1711601	NM_001369.3(DNAH5):c.4830dup (p.Trp1611fs)	DNAH5, LOC126807318 (W1611fs)	Duplication (frameshift variant)	not provided	GPathogenic

<< First< Prev

Page of 3