"Myriad Genetics, Inc."[submitter] AND "DNAH5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1725834	NM_001369.3(DNAH5):c.13364del (p.Gly4455fs)	DNAH5 (G4455fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725354	NM_001369.3(DNAH5):c.13255_13256del (p.Asp4419fs)	DNAH5 (D4419fs)	Deletion (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
Select item 1725894	NM_001369.3(DNAH5):c.13040del (p.Gly4347fs)	DNAH5 (G4347fs)	Deletion (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 1724495	NM_001369.3(DNAH5):c.12816_12817del (p.Phe4272fs)	DNAH5 (F4272fs)	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 1725950	NM_001369.3(DNAH5):c.12478G>T (p.Gly4160Ter)	DNAH5 (G4160*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725279	NM_001369.3(DNAH5):c.12459_12460insTGTTTTTTTT (p.Pro4154fs)	DNAH5 (P4154fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726071	NM_001369.3(DNAH5):c.12377dup (p.Arg4127fs)	DNAH5 (R4127fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725906	NM_001369.3(DNAH5):c.12298C>T (p.Gln4100Ter)	DNAH5 (Q4100*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724910	NM_001369.3(DNAH5):c.12074_12075insTGTCTCTTATACACAG (p.Glu4026fs)	DNAH5 (E4026fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
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 1724975	NM_001369.3(DNAH5):c.12069del (p.Lys4023fs)	DNAH5 (K4023fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725394	NM_001369.3(DNAH5):c.11938G>T (p.Glu3980Ter)	DNAH5 (E3980*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1381051	NM_001369.3(DNAH5):c.11935dup (p.Glu3979fs)	DNAH5 (E3979fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely 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 1724838	NM_001369.3(DNAH5):c.11783_11784del (p.Lys3928fs)	DNAH5 (K3928fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724805	NM_001369.3(DNAH5):c.11766_11768delinsCTCTGGTTGGTGAG (p.Ala3923delinsSerGlyTrpTer)	DNAH5	Indel (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725171	NM_001369.3(DNAH5):c.11705del (p.Lys3902fs)	DNAH5 (K3902fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725836	NM_001369.3(DNAH5):c.11668G>T (p.Glu3890Ter)	DNAH5 (E3890*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 525218	NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)	DNAH5 (R3885*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1725591	NM_001369.3(DNAH5):c.11496_11497del (p.Glu3832fs)	DNAH5 (E3832fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724863	NM_001369.3(DNAH5):c.11469del (p.Ser3824fs)	DNAH5 (S3824fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724185	NM_001369.3(DNAH5):c.11380G>T (p.Glu3794Ter)	DNAH5 (E3794*)	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 1724201	NM_001369.3(DNAH5):c.11207_11208insT (p.Lys3736fs)	DNAH5 (K3736fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726019	NM_001369.3(DNAH5):c.11205delinsTGTGTATAAGAGACAGT (p.Glu3735fs)	DNAH5 (E3735fs)	Indel (frameshift variant)	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 1725577	NM_001369.3(DNAH5):c.10933del (p.Arg3645fs)	DNAH5 (R3645fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725842	NM_001369.3(DNAH5):c.10783_10784del (p.Thr3595fs)	DNAH5 (T3595fs)	Deletion (frameshift variant)	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 1726687	NM_001369.3(DNAH5):c.10764_10765delinsA (p.Gln3589fs)	DNAH5 (Q3589fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724509	NM_001369.3(DNAH5):c.10304_10306delinsTTCG (p.Asn3435fs)	DNAH5 (N3435fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725099	NM_001369.3(DNAH5):c.10289T>A (p.Leu3430Ter)	DNAH5 (L3430*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724031	NM_001369.3(DNAH5):c.10201G>T (p.Gly3401Ter)	DNAH5 (G3401*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724672	NM_001369.3(DNAH5):c.10065del (p.Lys3355fs)	DNAH5 (K3355fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725588	NM_001369.3(DNAH5):c.10030del (p.Ser3344fs)	DNAH5 (S3344fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1453634	NM_001369.3(DNAH5):c.9990del (p.Gln3331fs)	DNAH5 (Q3331fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
Select item 1724651	NM_001369.3(DNAH5):c.9982_9983insACATA (p.Leu3328fs)	DNAH5 (L3328fs)	Insertion (frameshift variant)	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 1724253	NM_001369.3(DNAH5):c.9781A>T (p.Lys3261Ter)	DNAH5 (K3261*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1723909	NM_001369.3(DNAH5):c.9774_9775insTATAAGAGACA (p.Val3259fs)	DNAH5 (V3259fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724720	NM_001369.3(DNAH5):c.9768_9769delinsTGCGGAACT (p.Lys3256fs)	DNAH5 (K3256fs)	Indel (frameshift variant)	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 1724339	NM_001369.3(DNAH5):c.9761del (p.Lys3254fs)	DNAH5 (K3254fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724437	NM_001369.3(DNAH5):c.9736_9737insG (p.Thr3246fs)	DNAH5 (T3246fs)	Insertion (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 1726306	NM_001369.3(DNAH5):c.9620T>A (p.Leu3207Ter)	DNAH5 (L3207*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725632	NM_001369.3(DNAH5):c.9555T>A (p.Tyr3185Ter)	DNAH5 (Y3185*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725343	NM_001369.3(DNAH5):c.9292A>T (p.Arg3098Ter)	DNAH5 (R3098*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725436	NM_001369.3(DNAH5):c.9139G>T (p.Glu3047Ter)	DNAH5 (E3047*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1723992	NM_001369.3(DNAH5):c.9041_9042del (p.Thr3014fs)	DNAH5 (T3014fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725055	NM_001369.3(DNAH5):c.9032_9033del (p.Phe3011fs)	DNAH5 (F3011fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724965	NM_001369.3(DNAH5):c.8993T>A (p.Leu2998Ter)	DNAH5 (L2998*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724266	NM_001369.3(DNAH5):c.8790_8791del (p.Phe2931fs)	DNAH5 (F2931fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725854	NM_001369.3(DNAH5):c.8743C>T (p.Gln2915Ter)	DNAH5 (Q2915*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725159	NM_001369.3(DNAH5):c.8691T>A (p.Tyr2897Ter)	DNAH5 (Y2897*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725356	NM_001369.3(DNAH5):c.8685_8686del (p.Lys2895fs)	DNAH5 (K2895fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724876	NM_001369.3(DNAH5):c.8659_8660del (p.Glu2887fs)	DNAH5 (E2887fs)	Deletion (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 1723949	NM_001369.3(DNAH5):c.8624T>A (p.Leu2875Ter)	DNAH5 (L2875*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725715	NM_001369.3(DNAH5):c.8403del (p.Trp2801fs)	DNAH5 (W2801fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724905	NM_001369.3(DNAH5):c.8370T>A (p.Tyr2790Ter)	DNAH5 (Y2790*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725599	NM_001369.3(DNAH5):c.8340_8341del (p.Lys2780fs)	DNAH5 (K2780fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725445	NM_001369.3(DNAH5):c.8321G>A (p.Trp2774Ter)	DNAH5 (W2774*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725482	NM_001369.3(DNAH5):c.8161A>T (p.Lys2721Ter)	DNAH5 (K2721*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725531	NM_001369.3(DNAH5):c.8068A>T (p.Lys2690Ter)	DNAH5 (K2690*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724436	NM_001369.3(DNAH5):c.8058T>A (p.Tyr2686Ter)	DNAH5 (Y2686*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1723986	NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter)	DNAH5 (Q2682*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely 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 1725857	NM_001369.3(DNAH5):c.7982_7989del (p.Met2661fs)	DNAH5 (M2661fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724758	NM_001369.3(DNAH5):c.7849_7850del (p.Leu2617fs)	DNAH5 (L2617fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725218	NM_001369.3(DNAH5):c.7677T>A (p.Tyr2559Ter)	DNAH5 (Y2559*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725443	NM_001369.3(DNAH5):c.7605_7606insTGGGTGCT (p.Asp2536fs)	DNAH5 (D2536fs)	Insertion (frameshift variant)	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 1725118	NM_001369.3(DNAH5):c.7521del (p.Trp2507fs)	DNAH5 (W2507fs)	Deletion (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 1726152	NM_001369.3(DNAH5):c.7359dup (p.Val2454fs)	DNAH5 (V2454fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1726120	NM_001369.3(DNAH5):c.7295dup (p.Asp2434fs)	DNAH5 (D2434fs)	Duplication (frameshift variant)	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 1725003	NM_001369.3(DNAH5):c.7131_7146del (p.Phe2377fs)	DNAH5 (F2377fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724872	NM_001369.3(DNAH5):c.7091del (p.Gly2364fs)	DNAH5 (G2364fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1457400	NM_001369.3(DNAH5):c.7065_7066insTT (p.Asn2356fs)	DNAH5 (N2356fs)	Insertion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1724974	NM_001369.3(DNAH5):c.7052_7053del (p.Ser2351fs)	DNAH5 (S2351fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725439	NM_001369.3(DNAH5):c.7024_7030delinsAAT (p.Asp2342fs)	DNAH5 (D2342fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725539	NM_001369.3(DNAH5):c.6961del (p.Trp2321fs)	DNAH5 (W2321fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725914	NM_001369.3(DNAH5):c.6924del (p.Thr2309fs)	DNAH5 (T2309fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725383	NM_001369.3(DNAH5):c.6691_6692del (p.Glu2231fs)	DNAH5 (E2231fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725513	NM_001369.3(DNAH5):c.6574_6576delinsT (p.Lys2192fs)	DNAH5 (K2192fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724591	NM_001369.3(DNAH5):c.6574A>T (p.Lys2192Ter)	DNAH5 (K2192*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724460	NM_001369.3(DNAH5):c.6570_6573del (p.Ser2191fs)	DNAH5 (S2191fs)	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 1724376	NM_001369.3(DNAH5):c.6439_6440del (p.Lys2147fs)	DNAH5 (K2147fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724170	NM_001369.3(DNAH5):c.6379_6381delinsGACACTCAGCA (p.Asn2127fs)	DNAH5 (N2127fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1725428	NM_001369.3(DNAH5):c.6182del (p.Lys2061fs)	DNAH5 (K2061fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 1724802	NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter)	DNAH5 (W2028*)	Single nucleotide variant (nonsense)	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 1724616	NM_001369.3(DNAH5):c.5815_5821del (p.Ala1939fs)	DNAH5 (A1939fs)	Deletion (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

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