ClinVar for MedGen (Select 325210) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 896

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3075733	NM_001369.3:c.[13486C>T];[13194_13197del]			Primary ciliary dyskinesia 3	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 2907069	NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro)	DNAH5 (S2103P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2884121	NM_001369.3(DNAH5):c.1255del (p.Ser419fs)	DNAH5 (S419fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2690902	NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)	DNAH5 (V3399A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
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 2665064	NM_001369.3(DNAH5):c.[2577+5T>G;5413C>T]	DNAH5 (R1805C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2635774	NM_001369.3(DNAH5):c.57+1G>A	DNAH5	Single nucleotide variant (splice donor variant)	DNAH5-related disorder +1 more	GLikely pathogenic
Select item 2585428	NM_001369.3(DNAH5):c.3275T>C (p.Ile1092Thr)	DNAH5 (I1092T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2505516	NM_003998.4(NFKB1):c.263G>T (p.Cys88Phe)	NFKB1 (C74F +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 2505515	NM_001369.3(DNAH5):c.12493T>C (p.Tyr4165His)	DNAH5 (Y4165H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 2505514	NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr)	MCIDAS (I149T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 2505513	NM_139285.4(GAS2L2):c.208A>G (p.Asn70Asp)	GAS2L2 (N70D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 2505512	NM_001039396.2(MPEG1):c.973C>T (p.Pro325Ser)	MPEG1 (P325S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 2505511	NM_017950.4(CCDC40):c.967C>T (p.Gln323Ter)	CCDC40 (Q323*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GPathogenic
Select item 2502279	NM_001369.3(DNAH5):c.13338+5G>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 2500691	NM_001369.3(DNAH5):c.5238_5256dup (p.Lys1753Ter)	DNAH5 (K1753*)	Duplication (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 2499674	NM_001369.3(DNAH5):c.8072C>T (p.Pro2691Leu)	DNAH5 (P2691L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2497681	NM_001369.3(DNAH5):c.13491+8C>A	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 2442557	NM_001369.3(DNAH5):c.1731-1G>C	DNAH5	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 3 +1 more	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 2440914	NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly)	DNAH5 (A2969G)	Single nucleotide variant (missense variant)	not provided +2 more	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 2431425	NM_001369.3(DNAH5):c.8153A>G (p.Gln2718Arg)	DNAH5 (Q2718R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2191456	NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)	DNAH5 (R529Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 2186521	NM_001369.3(DNAH5):c.12646G>A (p.Asp4216Asn)	DNAH5 (D4216N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2173941	NM_001369.3(DNAH5):c.9511A>T (p.Thr3171Ser)	DNAH5 (T3171S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2173021	NM_021813.4(BACH2):c.1534C>A (p.Pro512Thr)	BACH2 (P512T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2149026	NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu)	DNAH5 (K3229E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 2143305	NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)	DNAH5 (A155V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2074911	NM_001369.3(DNAH5):c.8764C>T (p.Arg2922Cys)	DNAH5 (R2922C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1880839	NM_001369.3(DNAH5):c.7407+4A>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1805602	NM_001369.3(DNAH5):c.2283A>C (p.Arg761Ser)	DNAH5 (R761S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1803176	NM_001369.3(DNAH5):c.11456-7C>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1803168	NM_001369.3(DNAH5):c.6049C>G (p.Arg2017Gly)	DNAH5 (R2017G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1797023	NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys)	DNAH5 (E957K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GUncertain significance
Select item 1762881	NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)	DNAH5 (R2771C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1759906	NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)	DNAH5 (T2544M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
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 1726977	NM_001369.3(DNAH5):c.12073_12074insATAGAGAAGAGGT (p.Ala4025fs)	DNAH5 (A4025fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726973	NM_001369.3(DNAH5):c.7363_7364insCTGT (p.Ile2455fs)	DNAH5 (I2455fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726959	NM_001369.3(DNAH5):c.1411G>T (p.Gly471Ter)	DNAH5 (G471*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726906	NM_001369.3(DNAH5):c.7548_7549insTATGTGT (p.Glu2517delinsTyrValTer)	DNAH5	Insertion (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726844	NM_001369.3(DNAH5):c.5360_5361insATCAAAC (p.Trp1788fs)	DNAH5 (W1788fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726813	NM_001369.3(DNAH5):c.1530del (p.Lys510fs)	DNAH5 (K510fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726810	NM_001369.3(DNAH5):c.2382G>A (p.Trp794Ter)	DNAH5 (W794*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726807	NM_001369.3(DNAH5):c.3162_3163insACCATTT (p.Leu1055fs)	DNAH5 (L1055fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726801	NM_001369.3(DNAH5):c.4648C>T (p.Gln1550Ter)	DNAH5 (Q1550*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
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 1726736	NM_001369.3(DNAH5):c.4625_4626insTCCAC (p.Arg1542fs)	DNAH5 (R1542fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726724	NM_001369.3(DNAH5):c.1303_1304insAGTGT (p.Ala435fs)	DNAH5 (A435fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726720	NM_001369.3(DNAH5):c.3799C>T (p.Gln1267Ter)	DNAH5 (Q1267*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726702	NM_001369.3(DNAH5):c.9766A>T (p.Lys3256Ter)	DNAH5 (K3256*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726697	NM_001369.3(DNAH5):c.7240A>T (p.Lys2414Ter)	DNAH5 (K2414*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726687	NM_001369.3(DNAH5):c.10764_10765delinsA (p.Gln3589fs)	DNAH5 (Q3589fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726671	NM_001369.3(DNAH5):c.5135_5140delinsCC (p.Leu1712fs)	DNAH5 (L1712fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726666	NM_001369.3(DNAH5):c.8001G>A (p.Trp2667Ter)	DNAH5 (W2667*)	Single nucleotide variant (nonsense)	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	GLikely pathogenic
Select item 1726570	NM_001369.3(DNAH5):c.3034del (p.Ala1012fs)	DNAH5 (A1012fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726567	NM_001369.3(DNAH5):c.2996_2997insAATATTT (p.Ser1000fs)	DNAH5 (S1000fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726557	NM_001369.3(DNAH5):c.4151_4152del (p.Thr1384fs)	DNAH5 (T1384fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726550	NM_001369.3(DNAH5):c.5802_5803insGACG (p.Ile1935fs)	DNAH5 (I1935fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726548	NM_001369.3(DNAH5):c.12899delinsTT (p.Gln4300fs)	DNAH5 (Q4300fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726547	NM_001369.3(DNAH5):c.2188G>T (p.Glu730Ter)	DNAH5 (E730*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726522	NM_001369.3(DNAH5):c.10771G>T (p.Gly3591Ter)	DNAH5 (G3591*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726487	NM_001369.3(DNAH5):c.293del (p.Leu98fs)	DNAH5 (L98fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726469	NM_001369.3(DNAH5):c.2942delinsGCAGCA (p.Ile981fs)	DNAH5 (I981fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726448	NM_001369.3(DNAH5):c.8659G>T (p.Glu2887Ter)	DNAH5 (E2887*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726435	NM_001369.3(DNAH5):c.4304C>A (p.Ser1435Ter)	DNAH5 (S1435*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726430	NM_001369.3(DNAH5):c.4545del (p.Lys1515fs)	DNAH5 (K1515fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726408	NM_001369.3(DNAH5):c.6482_6483del (p.Val2161fs)	DNAH5 (V2161fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726401	NM_001369.3(DNAH5):c.1384_1399delinsATTGTT (p.Phe462fs)	DNAH5 (F462fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726375	NM_001369.3(DNAH5):c.5851_5852del (p.Asp1951fs)	DNAH5 (D1951fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726336	NM_001369.3(DNAH5):c.4660_4661del (p.Glu1554fs)	DNAH5 (E1554fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely 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 1726306	NM_001369.3(DNAH5):c.9620T>A (p.Leu3207Ter)	DNAH5 (L3207*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726295	NM_001369.3(DNAH5):c.4712_4713insAATTG (p.Leu1572fs)	DNAH5 (L1572fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726280	NM_001369.3(DNAH5):c.11857A>T (p.Arg3953Ter)	DNAH5 (R3953*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726279	NM_001369.3(DNAH5):c.1750_1751insTGTATAAGAGACA (p.Gly584fs)	DNAH5 (G584fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726234	NM_001369.3(DNAH5):c.4349del (p.Gln1450fs)	DNAH5 (Q1450fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726213	NM_001369.3(DNAH5):c.4018C>T (p.Gln1340Ter)	DNAH5 (Q1340*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726189	NM_001369.3(DNAH5):c.11203G>T (p.Glu3735Ter)	DNAH5 (E3735*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726179	NM_001369.3(DNAH5):c.9958del (p.Met3320fs)	DNAH5 (M3320fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726178	NM_001369.3(DNAH5):c.12650_12653delinsATAAGAGACAGT (p.Phe4217fs)	DNAH5 (F4217fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726175	NM_001369.3(DNAH5):c.149del (p.Leu50fs)	DNAH5 (L50fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726172	NM_001369.3(DNAH5):c.2554_2555insTATAAGAGACAGT (p.Glu852delinsValTer)	DNAH5	Insertion (nonsense)	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 1726158	NM_001369.3(DNAH5):c.9686dup (p.Glu3230fs)	DNAH5 (E3230fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726157	NM_001369.3(DNAH5):c.13119dup (p.Phe4374fs)	DNAH5 (F4374fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic

<< First< Prev

Page of 9