"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 504723	NM_001369.3(DNAH5):c.13492-15T>C	DNAH5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 226595	NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)	DNAH5 (P4488T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
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 163134	NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs)	DNAH5 (D4398fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 226593	NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 163133	NM_001369.3(DNAH5):c.12910-11C>T	DNAH5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 178741	NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala)	DNAH5 (T4220A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 178742	NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
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 228608	NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)	DNAH5 (T4070I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 226591	NM_001369.3(DNAH5):c.12033+7A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 228607	NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)	DNAH5 (D3992H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 506280	NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn)	DNAH5 (D3957N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 504724	NM_001369.3(DNAH5):c.11570+8T>C	DNAH5	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 228606	NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)	DNAH5 (R3813W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 178744	NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile)	LOC107457585, DNAH5 (T3791I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 163135	NM_001369.3(DNAH5):c.10545A>G (p.Lys3515=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 163136	NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 238954	NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr)	DNAH5 (M3486T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 227322	NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)	DNAH5 (M3441I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227321	NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)	DNAH5 (V3432L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 506279	NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile)	DNAH5 (V3399I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 163137	NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 167003	NM_001369.3(DNAH5):c.9721-12A>T	DNAH5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 226607	NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 179339	NM_001369.3(DNAH5):c.9449del (p.Gly3150fs)	DNAH5 (G3150fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 163138	NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 228609	NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)	DNAH5 (T2947I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 163139	NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)	DNAH5 (A2881G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GPathogenic/Likely pathogenic
Select item 178745	NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe)	DNAH5 (L2862F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 178746	NM_001369.3(DNAH5):c.8449-12T>C	DNAH5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 163140	NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly)	DNAH5 (D2796G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 258062	NM_001369.3(DNAH5):c.8224+15G>A	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 666824	NM_001369.3(DNAH5):c.8128G>A (p.Gly2710Ser)	DNAH5 (G2710S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 188229	NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)	DNAH5 (E2666D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 197517	NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)	DNAH5 (R2511W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 179699	NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)	DNAH5 (R2501P)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 163141	NM_001369.3(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del)	DNAH5	Deletion (inframe_deletion)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 163142	NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg)	DNAH5 (Q2463R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226606	NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His)	DNAH5 (R2425H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 227328	NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178747	NM_001369.3(DNAH5):c.6989-13T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 226605	NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile)	DNAH5 (V2307I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 178748	NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)	DNAH5 (K2244M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 238984	NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val)	DNAH5 (L2235V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 226604	NM_001369.3(DNAH5):c.6579+6A>G	DNAH5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 163143	NM_001369.3(DNAH5):c.6579+3A>G	DNAH5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 163144	NM_001369.3(DNAH5):c.6444+11C>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226603	NM_001369.3(DNAH5):c.6444+8A>G	DNAH5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 228598	NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His)	DNAH5 (R2102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 163145	NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 228251	NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)	DNAH5 (M2083I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 351079	NM_001369.3(DNAH5):c.6062-4G>A	DNAH5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 163146	NM_001369.3(DNAH5):c.6061+10A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 163147	NM_001369.3(DNAH5):c.5907T>C (p.Ala1969=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 226602	NM_001369.3(DNAH5):c.5707C>T (p.Leu1903=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 226601	NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 163148	NM_001369.3(DNAH5):c.5485-11A>G	DNAH5	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 402728	NM_001369.3(DNAH5):c.5272-16_5272-15del	DNAH5	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 351096	NM_001369.3(DNAH5):c.5272-15del	DNAH5	Deletion (intron variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 227327	NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)	DNAH5 (E1756K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 226600	NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +3 more	GBenign/Likely benign
Select item 178749	NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 226599	NM_001369.3(DNAH5):c.5115-4G>T	DNAH5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 163149	NM_001369.3(DNAH5):c.5115-5T>C	DNAH5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 163150	NM_001369.3(DNAH5):c.5114+11T>C	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226598	NM_001369.3(DNAH5):c.4796+11C>A	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 227326	NM_001369.3(DNAH5):c.4687G>A (p.Gly1563Ser)	DNAH5 (G1563S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 227325	NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)	DNAH5 (G1504R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178750	NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 178751	NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 163151	NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 505358	NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe)	DNAH5 (V1299F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 215494	NM_001369.3(DNAH5):c.3835-3del	DNAH5	Deletion (intron variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 227324	NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163152	NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)	DNAH5 (Q1172K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 163153	NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)	DNAH5 (V1101M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 163154	NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 178752	NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)	DNAH5 (M1081V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign/Likely benign
Select item 667393	NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)	DNAH5 (V1014fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 163155	NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly)	DNAH5 (S1006G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 163156	NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys)	DNAH5 (E895K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 402730	NM_001369.3(DNAH5):c.2578-10_2578-7del	DNAH5	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 402729	NM_001369.3(DNAH5):c.2578-8_2578-7del	DNAH5	Deletion (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 351200	NM_001369.3(DNAH5):c.2578-9_2578-7del	DNAH5	Deletion (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 178753	NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu)	DNAH5 (I766L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 178754	NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)	DNAH5 (N751K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 178755	NM_001369.3(DNAH5):c.2229T>C (p.Asp743=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 226597	NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys)	DNAH5 (Q620K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 226596	NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg)	DNAH5 (L591R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 351208	NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)	DNAH5 (L572W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 163157	NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala)	DNAH5 (T558A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 178756	NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)	DNAH5 (N549K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 163158	NM_001369.3(DNAH5):c.1503T>C (p.Ile501=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 555559	NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs)	DNAH5 (F476fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
Select item 226594	NM_001369.3(DNAH5):c.1395C>T (p.Ser465=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 178757	NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity

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