DNAH3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	KNOP1, LAT +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151156	GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1	ACSM1, ACSM2A +35 more	Copy number loss	See cases	GUncertain significance
Select item 157359	Single allele	DNAH3, LOC126862312 +1 more	Deletion	Large for gestational age	Gnot provided
Select item 2589165	NM_001347886.2(DNAH3):c.12205G>A (p.Asp4069Asn)	DNAH3 (D4069N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083889	NM_001347886.2(DNAH3):c.12169T>C (p.Trp4057Arg)	DNAH3 (W4057R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083888	NM_001347886.2(DNAH3):c.12148A>G (p.Thr4050Ala)	DNAH3 (T4096A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083886	NM_001347886.2(DNAH3):c.12141G>C (p.Glu4047Asp)	DNAH3 (E4047D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390806	NM_001347886.2(DNAH3):c.12130C>T (p.Leu4044Phe)	DNAH3 (L4090F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272839	NM_001347886.2(DNAH3):c.12061T>G (p.Cys4021Gly)	DNAH3 (C4021G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776990	NM_001347886.2(DNAH3):c.11976C>T (p.Leu3992=)	DNAH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3083885	NM_001347886.2(DNAH3):c.11905G>C (p.Ala3969Pro)	DNAH3 (A3969P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605371	NM_001347886.2(DNAH3):c.11892C>G (p.Asn3964Lys)	DNAH3 (N3964K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713290	NM_001347886.2(DNAH3):c.11859+6G>A	DNAH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 981917	NM_001347886.2(DNAH3):c.11827A>G (p.Ile3943Val)	DNAH3 (I3943V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2396853	NM_001347886.2(DNAH3):c.11816G>A (p.Arg3939Gln)	DNAH3 (R3985Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365333	NM_001347886.2(DNAH3):c.11797G>A (p.Val3933Ile)	DNAH3 (V3979I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271541	NM_001347886.2(DNAH3):c.11588C>T (p.Ser3863Leu)	DNAH3 (S3863L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307388	NM_001347886.2(DNAH3):c.11533C>T (p.Arg3845Trp)	DNAH3 (R3845W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456253	NM_001347886.2(DNAH3):c.11525A>G (p.Lys3842Arg)	DNAH3 (K3842R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474185	NM_001347886.2(DNAH3):c.11465A>G (p.Tyr3822Cys)	DNAH3 (Y3868C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083884	NM_001347886.2(DNAH3):c.11443A>T (p.Met3815Leu)	DNAH3 (M3815L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259800	NM_001347886.2(DNAH3):c.11398G>T (p.Asp3800Tyr)	DNAH3 (D3800Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219276	NM_001347886.2(DNAH3):c.11338C>G (p.Pro3780Ala)	DNAH3 (P3780A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272831	NM_001347886.2(DNAH3):c.11260G>A (p.Gly3754Ser)	DNAH3 (G3754S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272832	NM_001347886.2(DNAH3):c.11219A>G (p.Tyr3740Cys)	DNAH3 (Y3740C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204084	NM_001347886.2(DNAH3):c.11161G>A (p.Ala3721Thr)	DNAH3 (A3721T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263192	NM_001347886.2(DNAH3):c.11080G>A (p.Asp3694Asn)	DNAH3 (D3694N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718594	NM_001347886.2(DNAH3):c.11040C>G (p.Thr3680=)	DNAH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774340	NM_001347886.2(DNAH3):c.10973G>A (p.Arg3658Lys)	DNAH3 (R3658K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2234130	NM_001347886.2(DNAH3):c.10970T>G (p.Leu3657Arg)	DNAH3 (L3703R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215111	NM_001347886.2(DNAH3):c.10966G>A (p.Asp3656Asn)	DNAH3 (D3702N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083882	NM_001347886.2(DNAH3):c.10949A>G (p.Tyr3650Cys)	DNAH3 (Y3650C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389119	NM_001347886.2(DNAH3):c.10945C>A (p.Pro3649Thr)	DNAH3 (P3649T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646287	NM_001347886.2(DNAH3):c.10900G>T (p.Val3634Phe)	DNAH3 (V3634F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2593749	NM_001347886.2(DNAH3):c.10796G>A (p.Arg3599His)	DNAH3 (R3645H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366799	NM_001347886.2(DNAH3):c.10781G>A (p.Arg3594Gln)	DNAH3 (R3640Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272841	NM_001347886.2(DNAH3):c.10765C>A (p.Pro3589Thr)	DNAH3 (P3635T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543960	NM_001347886.2(DNAH3):c.10699A>C (p.Thr3567Pro)	DNAH3 (T3567P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646288	NM_001347886.2(DNAH3):c.10688+5G>A	DNAH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2473168	NM_001347886.2(DNAH3):c.10669A>G (p.Ser3557Gly)	DNAH3 (S3557G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470451	NM_001347886.2(DNAH3):c.10654G>C (p.Val3552Leu)	DNAH3 (V3552L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083881	NM_001347886.2(DNAH3):c.10653G>T (p.Glu3551Asp)	DNAH3 (E3551D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783063	NM_001347886.2(DNAH3):c.10613C>A (p.Ala3538Asp)	DNAH3 (A3538D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602146	NM_001347886.2(DNAH3):c.10579G>A (p.Gly3527Arg)	DNAH3 (G3527R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526614	NM_001347886.2(DNAH3):c.10568C>T (p.Ala3523Val)	DNAH3 (A3523V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287166	NM_001347886.2(DNAH3):c.10555A>G (p.Met3519Val)	DNAH3 (M3519V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083880	NM_001347886.2(DNAH3):c.10543A>G (p.Ile3515Val)	DNAH3 (I3561V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083879	NM_001347886.2(DNAH3):c.10480G>A (p.Asp3494Asn)	DNAH3 (D3540N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083878	NM_001347886.2(DNAH3):c.10454C>T (p.Pro3485Leu)	DNAH3 (P3531L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728240	NM_001347886.2(DNAH3):c.10377G>A (p.Thr3459=)	DNAH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222835	NM_001347886.2(DNAH3):c.10366G>A (p.Glu3456Lys)	DNAH3 (E3502K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238650	NM_001347886.2(DNAH3):c.10349T>C (p.Met3450Thr)	DNAH3 (M3450T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272837	NM_001347886.2(DNAH3):c.10336A>G (p.Ile3446Val)	DNAH3 (I3492V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402725	NM_001347886.2(DNAH3):c.10328G>A (p.Arg3443Gln)	DNAH3 (R3489Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2627625	NM_001347886.2(DNAH3):c.10301G>A (p.Arg3434Gln)	DNAH3 (R3434Q +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 18	GLikely pathogenic
Select item 2221698	NM_001347886.2(DNAH3):c.10300C>T (p.Arg3434Trp)	DNAH3 (R3480W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083877	NM_001347886.2(DNAH3):c.10268G>T (p.Gly3423Val)	DNAH3 (G3423V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272815	NM_001347886.2(DNAH3):c.10136G>A (p.Arg3379His)	DNAH3 (R3379H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627627	NM_001347886.2(DNAH3):c.10122G>A (p.Trp3374Ter)	DNAH3 (W3374* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 18	GLikely pathogenic
Select item 2391702	NM_001347886.2(DNAH3):c.10117G>A (p.Ala3373Thr)	DNAH3 (A3373T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646289	NM_001347886.2(DNAH3):c.10065C>T (p.Ile3355=)	DNAH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258452	NM_001347886.2(DNAH3):c.9998T>C (p.Ile3333Thr)	DNAH3 (I3333T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544141	NM_001347886.2(DNAH3):c.9838A>C (p.Ile3280Leu)	DNAH3 (I3280L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570005	NM_001347886.2(DNAH3):c.9824C>A (p.Ser3275Tyr)	DNAH3 (S3275Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494970	NM_001347886.2(DNAH3):c.9737T>A (p.Met3246Lys)	DNAH3 (M3292K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083971	NM_001347886.2(DNAH3):c.9661A>G (p.Lys3221Glu)	DNAH3 (K3267E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241430	NM_001347886.2(DNAH3):c.9628G>C (p.Asp3210His)	DNAH3 (D3210H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272842	NM_001347886.2(DNAH3):c.9528C>G (p.Asn3176Lys)	DNAH3 (N3176K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736081	NM_001347886.2(DNAH3):c.9522A>G (p.Lys3174=)	DNAH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2216684	NM_001347886.2(DNAH3):c.9494C>T (p.Ala3165Val)	DNAH3 (A3165V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353972	NM_001347886.2(DNAH3):c.9454C>T (p.Pro3152Ser)	DNAH3 (P3152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240357	NM_001347886.2(DNAH3):c.9436C>T (p.Leu3146Phe)	DNAH3 (L3146F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393744	NM_001347886.2(DNAH3):c.9427G>T (p.Val3143Phe)	DNAH3 (V3189F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207537	NM_001347886.2(DNAH3):c.9421G>A (p.Val3141Met)	DNAH3 (V3187M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283982	NM_001347886.2(DNAH3):c.9385C>T (p.Arg3129Cys)	DNAH3 (R3129C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365295	NM_001347886.2(DNAH3):c.9361G>T (p.Asp3121Tyr)	DNAH3 (D3167Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646290	NM_001347886.2(DNAH3):c.9251T>C (p.Ile3084Thr)	DNAH3 (I3084T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2603286	NM_001347886.2(DNAH3):c.9242T>C (p.Ile3081Thr)	DNAH3 (I3081T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277568	NM_001347886.2(DNAH3):c.9222G>T (p.Gln3074His)	DNAH3 (Q3120H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646291	NM_001347886.2(DNAH3):c.9214G>A (p.Ala3072Thr)	DNAH3 (A3072T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2212878	NM_001347886.2(DNAH3):c.9155C>T (p.Ala3052Val)	DNAH3 (A3052V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083969	NM_001347886.2(DNAH3):c.9025C>A (p.Gln3009Lys)	DNAH3 (Q3009K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646292	NM_001347886.2(DNAH3):c.8892C>T (p.Gly2964=)	DNAH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2523689	NM_001347886.2(DNAH3):c.8864T>C (p.Leu2955Pro)	DNAH3 (L2955P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083968	NM_001347886.2(DNAH3):c.8849C>G (p.Thr2950Ser)	DNAH3 (T2996S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464391	NM_001347886.2(DNAH3):c.8833C>T (p.Arg2945Cys)	DNAH3 (R2945C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3272838	NM_001347886.2(DNAH3):c.8822A>G (p.Gln2941Arg)	DNAH3 (Q2941R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261660	NM_001347886.2(DNAH3):c.8819G>T (p.Arg2940Leu)	DNAH3 (R2940L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083967	NM_001347886.2(DNAH3):c.8807C>A (p.Thr2936Asn)	DNAH3 (T2936N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083966	NM_001347886.2(DNAH3):c.8767A>G (p.Lys2923Glu)	DNAH3 (K2969E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607523	NM_001347886.2(DNAH3):c.8744C>T (p.Ser2915Phe)	DNAH3 (S2915F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388715	NM_001347886.2(DNAH3):c.8690T>C (p.Phe2897Ser)	DNAH3 (F2897S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272844	NM_001347886.2(DNAH3):c.8684A>G (p.Asp2895Gly)	DNAH3 (D2895G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349008	NM_001347886.2(DNAH3):c.8683G>A (p.Asp2895Asn)	DNAH3 (D2941N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083964	NM_001347886.2(DNAH3):c.8665C>T (p.Arg2889Trp)	DNAH3 (R2935W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083963	NM_001347886.2(DNAH3):c.8548C>T (p.Arg2850Cys)	DNAH3 (R2896C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272826	NM_001347886.2(DNAH3):c.8545G>A (p.Asp2849Asn)	DNAH3 (D2895N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083962	NM_001347886.2(DNAH3):c.8516G>A (p.Cys2839Tyr)	DNAH3 (C2885Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354890	NM_001347886.2(DNAH3):c.8498C>T (p.Ser2833Leu)	DNAH3 (S2879L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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