ClinVar for Gene (Select 25981) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380969	NM_015512.5(DNAH1):c.8575del (p.Leu2859fs)	DNAH1 (L2859fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3379472	NM_015512.5(DNAH1):c.10298A>G (p.Glu3433Gly)	DNAH1 (E3433G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377059	NM_015512.5(DNAH1):c.5094+5G>A	DNAH1	Single nucleotide variant (intron variant)	Ciliary dyskinesia, primary, 37	GUncertain significance
Select item 3376091	NM_015512.5(DNAH1):c.9247G>C (p.Glu3083Gln)	DNAH1 (E3083Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369534	NM_015512.5(DNAH1):c.8237C>T (p.Pro2746Leu)	DNAH1 (P2746L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368986	NM_015512.5(DNAH1):c.11540A>G (p.Asp3847Gly)	DNAH1 (D3847G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368439	NM_015512.5(DNAH1):c.9686G>T (p.Arg3229Leu)	DNAH1 (R3229L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362716	NM_015512.5(DNAH1):c.9395G>A (p.Arg3132His)	DNAH1 (R3132H)	Single nucleotide variant (missense variant)	Spermatogenic failure 18	GUncertain significance
Select item 3362419	NM_015512.5(DNAH1):c.6781_6782insG (p.Ser2261fs)	DNAH1 (S2261fs)	Insertion (frameshift variant)	Spermatogenic failure 18	GLikely pathogenic
Select item 3355781	NM_015512.5(DNAH1):c.7176A>C (p.Glu2392Asp)	DNAH1 (E2392D)	Single nucleotide variant (missense variant)	DNAH1-related disorder	GUncertain significance
Select item 3353175	NM_015512.5(DNAH1):c.7302C>T (p.Ser2434=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3345468	NM_015512.5(DNAH1):c.7345_7348del (p.Gly2449fs)	DNAH1 (G2449fs)	Deletion (frameshift variant)	DNAH1-related disorder	GLikely pathogenic
Select item 3345416	NM_015512.5(DNAH1):c.8649G>A (p.Glu2883=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3341026	NM_015512.5(DNAH1):c.9741+1G>T	DNAH1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3272561	NM_015512.5(DNAH1):c.830C>T (p.Pro277Leu)	DNAH1 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272560	NM_015512.5(DNAH1):c.3094G>A (p.Asp1032Asn)	DNAH1 (D1032N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272559	NM_015512.5(DNAH1):c.2920G>A (p.Glu974Lys)	DNAH1 (E974K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272558	NM_015512.5(DNAH1):c.11515T>G (p.Phe3839Val)	DNAH1 (F3839V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272557	NM_015512.5(DNAH1):c.6568A>G (p.Met2190Val)	DNAH1 (M2190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272556	NM_015512.5(DNAH1):c.9287G>C (p.Arg3096Pro)	DNAH1 (R3096P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272555	NM_015512.5(DNAH1):c.232C>T (p.Arg78Trp)	DNAH1 (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272554	NM_015512.5(DNAH1):c.1103C>G (p.Pro368Arg)	DNAH1 (P368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272553	NM_015512.5(DNAH1):c.2113A>C (p.Met705Leu)	DNAH1 (M705L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272552	NM_015512.5(DNAH1):c.366C>A (p.Asn122Lys)	DNAH1 (N122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272551	NM_015512.5(DNAH1):c.9899A>G (p.Lys3300Arg)	DNAH1 (K3300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272550	NM_015512.5(DNAH1):c.7704C>G (p.Ile2568Met)	DNAH1 (I2568M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272549	NM_015512.5(DNAH1):c.8920A>G (p.Lys2974Glu)	DNAH1 (K2974E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272548	NM_015512.5(DNAH1):c.8705C>T (p.Ala2902Val)	DNAH1 (A2902V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272546	NM_015512.5(DNAH1):c.7429C>T (p.Arg2477Trp)	DNAH1 (R2477W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272545	NM_015512.5(DNAH1):c.3724C>T (p.Arg1242Trp)	DNAH1 (R1242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272544	NM_015512.5(DNAH1):c.3940C>T (p.Leu1314Phe)	DNAH1 (L1314F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272543	NM_015512.5(DNAH1):c.9238C>T (p.Arg3080Cys)	DNAH1 (R3080C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272542	NM_015512.5(DNAH1):c.10189C>T (p.Arg3397Trp)	DNAH1 (R3397W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272541	NM_015512.5(DNAH1):c.11587G>A (p.Glu3863Lys)	DNAH1 (E3863K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272540	NM_015512.5(DNAH1):c.2982G>A (p.Met994Ile)	DNAH1 (M994I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272539	NM_015512.5(DNAH1):c.9239G>A (p.Arg3080His)	DNAH1 (R3080H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272538	NM_015512.5(DNAH1):c.3797G>A (p.Arg1266His)	DNAH1 (R1266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252211	NM_015512.5(DNAH1):c.3596A>G (p.Asp1199Gly)	DNAH1 (D1199G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3083415	NM_015512.5(DNAH1):c.9884T>G (p.Leu3295Arg)	DNAH1 (L3295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083414	NM_015512.5(DNAH1):c.9344G>A (p.Arg3115Gln)	DNAH1 (R3115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083413	NM_015512.5(DNAH1):c.9259G>C (p.Gly3087Arg)	DNAH1 (G3087R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083411	NM_015512.5(DNAH1):c.9232A>G (p.Lys3078Glu)	DNAH1 (K3078E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083410	NM_015512.5(DNAH1):c.9205G>T (p.Val3069Leu)	DNAH1 (V3069L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083409	NM_015512.5(DNAH1):c.8492G>T (p.Arg2831Leu)	DNAH1 (R2831L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083408	NM_015512.5(DNAH1):c.8420A>G (p.Tyr2807Cys)	DNAH1 (Y2807C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083407	NM_015512.5(DNAH1):c.8290C>A (p.Leu2764Met)	DNAH1 (L2764M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083406	NM_015512.5(DNAH1):c.7708C>T (p.Arg2570Cys)	DNAH1 (R2570C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083405	NM_015512.5(DNAH1):c.7127G>A (p.Arg2376His)	DNAH1 (R2376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083404	NM_015512.5(DNAH1):c.6901C>G (p.Leu2301Val)	DNAH1 (L2301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083403	NM_015512.5(DNAH1):c.6779C>G (p.Thr2260Ser)	DNAH1 (T2260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083402	NM_015512.5(DNAH1):c.6643A>G (p.Met2215Val)	DNAH1 (M2215V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083401	NM_015512.5(DNAH1):c.6221T>C (p.Leu2074Pro)	DNAH1 (L2074P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083400	NM_015512.5(DNAH1):c.612T>G (p.Ile204Met)	DNAH1 (I204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083399	NM_015512.5(DNAH1):c.5810C>G (p.Thr1937Ser)	DNAH1 (T1937S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083398	NM_015512.5(DNAH1):c.5786C>T (p.Ser1929Leu)	DNAH1 (S1929L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083397	NM_015512.5(DNAH1):c.5480G>A (p.Arg1827His)	DNAH1 (R1827H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083396	NM_015512.5(DNAH1):c.5440G>C (p.Glu1814Gln)	DNAH1 (E1814Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083395	NM_015512.5(DNAH1):c.533C>T (p.Pro178Leu)	DNAH1 (P178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083394	NM_015512.5(DNAH1):c.4730G>T (p.Gly1577Val)	DNAH1 (G1577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083392	NM_015512.5(DNAH1):c.418G>C (p.Glu140Gln)	DNAH1 (E140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083391	NM_015512.5(DNAH1):c.3674A>G (p.Asn1225Ser)	DNAH1 (N1225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083390	NM_015512.5(DNAH1):c.3655C>T (p.Arg1219Cys)	DNAH1 (R1219C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3083389	NM_015512.5(DNAH1):c.3638A>G (p.Lys1213Arg)	DNAH1 (K1213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083388	NM_015512.5(DNAH1):c.3542C>T (p.Ala1181Val)	DNAH1 (A1181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083387	NM_015512.5(DNAH1):c.3502G>A (p.Glu1168Lys)	DNAH1 (E1168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083386	NM_015512.5(DNAH1):c.3427G>A (p.Glu1143Lys)	DNAH1 (E1143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083385	NM_015512.5(DNAH1):c.3408G>A (p.Met1136Ile)	DNAH1 (M1136I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083384	NM_015512.5(DNAH1):c.3186G>T (p.Lys1062Asn)	DNAH1 (K1062N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083383	NM_015512.5(DNAH1):c.2529C>G (p.Ile843Met)	DNAH1 (I843M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083382	NM_015512.5(DNAH1):c.2444A>G (p.Gln815Arg)	DNAH1 (Q815R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083381	NM_015512.5(DNAH1):c.2315A>G (p.Gln772Arg)	DNAH1 (Q772R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083380	NM_015512.5(DNAH1):c.2150A>C (p.Glu717Ala)	DNAH1 (E717A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083379	NM_015512.5(DNAH1):c.1259G>A (p.Ser420Asn)	DNAH1 (S420N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083378	NM_015512.5(DNAH1):c.1121G>A (p.Arg374His)	DNAH1 (R374H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083376	NM_015512.5(DNAH1):c.10705C>T (p.Arg3569Trp)	DNAH1 (R3569W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083375	NM_015512.5(DNAH1):c.10579T>C (p.Phe3527Leu)	DNAH1 (F3527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068212	NM_015512.5(DNAH1):c.6065_6066delinsTC (p.Trp2022Phe)	DNAH1 (W2022F)	Indel (missense variant)	Spermatogenic failure 18	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3059529	NM_015512.5(DNAH1):c.8689G>A (p.Glu2897Lys)	DNAH1 (E2897K)	Single nucleotide variant (missense variant)	DNAH1-related disorder	GUncertain significance
Select item 3057789	NM_015512.5(DNAH1):c.8085G>A (p.Lys2695=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3055077	NM_015512.5(DNAH1):c.2583T>C (p.Ile861=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3052336	NM_015512.5(DNAH1):c.4266+10C>T	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder	GLikely benign
Select item 3050243	NM_015512.5(DNAH1):c.11655C>G (p.Val3885=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3046768	NM_015512.5(DNAH1):c.7659G>A (p.Thr2553=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3046597	NM_015512.5(DNAH1):c.5682G>A (p.Glu1894=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3043788	NM_015512.5(DNAH1):c.333+10G>A	DNAH1	Single nucleotide variant (intron variant)	DNAH1-related disorder	GLikely benign
Select item 3040687	NM_015512.5(DNAH1):c.7800G>A (p.Ser2600=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3035514	NM_015512.5(DNAH1):c.4074G>A (p.Glu1358=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3033262	NM_015512.5(DNAH1):c.3780G>A (p.Leu1260=)	DNAH1	Single nucleotide variant (synonymous variant)	DNAH1-related disorder	GLikely benign
Select item 3025535	NM_015512.5(DNAH1):c.12150G>A (p.Lys4050=)	DNAH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2953970	NM_015512.5(DNAH1):c.11331C>T (p.Asn3777=)	DNAH1	Single nucleotide variant (synonymous variant)	Ciliary dyskinesia, primary, 37 +1 more	GLikely benign
Select item 2953516	NM_015512.5(DNAH1):c.7443G>C (p.Val2481=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2953507	NM_015512.5(DNAH1):c.1831C>T (p.Leu611=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2953025	NM_015512.5(DNAH1):c.3693+4G>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2952920	NM_015512.5(DNAH1):c.7056C>T (p.Thr2352=)	DNAH1	Single nucleotide variant (synonymous variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2952628	NM_015512.5(DNAH1):c.1286+9C>T	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2952546	NM_015512.5(DNAH1):c.4052C>T (p.Pro1351Leu)	DNAH1 (P1351L)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance
Select item 2952537	NM_015512.5(DNAH1):c.1445-8C>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2952506	NM_015512.5(DNAH1):c.9172-9G>A	DNAH1	Single nucleotide variant (intron variant)	Spermatogenic failure 18 +1 more	GLikely benign
Select item 2952075	NM_015512.5(DNAH1):c.5320A>T (p.Ser1774Cys)	DNAH1 (S1774C)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GUncertain significance

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