Related gene-specific medical variations for Gene (Select 1778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371303	NM_001376.5(DYNC1H1):c.2890A>T (p.Ile964Leu)	DYNC1H1, LOC130056502 (I964L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366944	NM_001376.5(DYNC1H1):c.3281A>G (p.Asp1094Gly)	DYNC1H1 (D1094G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 3365692	NM_001376.5(DYNC1H1):c.9127A>G (p.Met3043Val)	DYNC1H1, LOC126862060 (M3043V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362102	NM_001376.5(DYNC1H1):c.7222G>A (p.Ala2408Thr)	DYNC1H1 (A2408T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362088	NM_001376.5(DYNC1H1):c.1851G>T (p.Glu617Asp)	DYNC1H1 (E617D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361938	NM_001376.5(DYNC1H1):c.11276G>A (p.Arg3759His)	DYNC1H1 (R3759H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3361846	NM_001376.5(DYNC1H1):c.7534G>T (p.Ala2512Ser)	DYNC1H1 (A2512S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361831	NM_001376.5(DYNC1H1):c.5501A>C (p.Lys1834Thr)	DYNC1H1 (K1834T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361562	NM_001376.5(DYNC1H1):c.1420G>A (p.Glu474Lys)	DYNC1H1 (E474K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361274	NM_001376.5(DYNC1H1):c.10713C>G (p.Asp3571Glu)	DYNC1H1 (D3571E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360950	NM_001376.5(DYNC1H1):c.9109del (p.Ala3037fs)	DYNC1H1 (A3037fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3360809	NM_001376.5(DYNC1H1):c.4045C>T (p.Gln1349Ter)	DYNC1H1 (Q1349*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3360692	NM_001376.5(DYNC1H1):c.7936A>G (p.Asn2646Asp)	DYNC1H1 (N2646D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360551	NM_001376.5(DYNC1H1):c.9542A>G (p.Asn3181Ser)	DYNC1H1 (N3181S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360270	NM_001376.5(DYNC1H1):c.8177+3A>C	DYNC1H1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3359947	NM_001376.5(DYNC1H1):c.3265G>A (p.Ala1089Thr)	DYNC1H1 (A1089T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359946	NM_001376.5(DYNC1H1):c.145C>T (p.Pro49Ser)	DYNC1H1 (P49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359919	NM_001376.5(DYNC1H1):c.4580delinsCC (p.Leu1527fs)	DYNC1H1 (L1527fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3359732	NM_001376.5(DYNC1H1):c.4962C>A (p.Phe1654Leu)	DYNC1H1 (F1654L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358996	NM_001376.5(DYNC1H1):c.10975dup (p.Arg3659fs)	DYNC1H1 (R3659fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 13	GPathogenic
Select item 3274141	NM_001376.5(DYNC1H1):c.9137C>T (p.Ser3046Leu)	DYNC1H1, LOC126862060 (S3046L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258083	NM_001376.5(DYNC1H1):c.12227G>A (p.Gly4076Asp)	DYNC1H1 (G4076D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 3253162	NM_001376.5(DYNC1H1):c.9275A>G (p.Asn3092Ser)	DYNC1H1, LOC126862060 (N3092S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244022	NC_000014.8:g.(?_102502896)_(102506050_?)dup	DYNC1H1	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3244021	NC_000014.8:g.(?_102514134)_(102516900_?)dup	DYNC1H1	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3244020	NC_000014.8:g.(?_102457844)_(102483861_?)dup	DYNC1H1	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3244017	NC_000014.8:g.(?_102460990)_(102461657_?)del	DYNC1H1	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3236613	NM_001376.5(DYNC1H1):c.8780G>A (p.Arg2927His)	DYNC1H1 (R2927H)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +1 more	GUncertain significance
Select item 3235895	NM_001376.5(DYNC1H1):c.4603G>A (p.Asp1535Asn)	DYNC1H1 (D1535N)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +2 more	GUncertain significance
Select item 3065830	NM_001376.5(DYNC1H1):c.12628T>C (p.Ser4210Pro)	DYNC1H1 (S4210P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 3030522	NM_001376.5(DYNC1H1):c.9036G>A (p.Leu3012=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	DYNC1H1-related disorder	GLikely benign
Select item 2988911	NM_001376.5(DYNC1H1):c.8889C>G (p.Val2963=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2907985	NM_001376.5(DYNC1H1):c.9369T>A (p.Pro3123=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2907984	NM_001376.5(DYNC1H1):c.9153C>T (p.Tyr3051=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2882713	NM_001376.5(DYNC1H1):c.9424G>T (p.Ala3142Ser)	DYNC1H1, LOC126862060 (A3142S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2877870	NM_001376.5(DYNC1H1):c.9048+13C>A	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2874400	NM_001376.5(DYNC1H1):c.2910C>T (p.Tyr970=)	DYNC1H1, LOC130056502	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2836495	NM_001376.5(DYNC1H1):c.9177C>T (p.Ile3059=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2829625	NM_001376.5(DYNC1H1):c.8887-14C>T	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2827824	NM_001376.5(DYNC1H1):c.2912T>A (p.Leu971Ter)	DYNC1H1, LOC130056502 (L971*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2826987	NM_001376.5(DYNC1H1):c.9332G>C (p.Ser3111Thr)	DYNC1H1, LOC126862060 (S3111T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2785511	NM_001376.5(DYNC1H1):c.9468+14T>C	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2784152	NM_001376.5(DYNC1H1):c.2952G>A (p.Gln984=)	DYNC1H1, LOC130056502	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2777061	NM_001376.5(DYNC1H1):c.8967G>A (p.Lys2989=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2748115	NM_001376.5(DYNC1H1):c.9049-16C>T	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2745635	NM_001376.5(DYNC1H1):c.8964A>G (p.Glu2988=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2743787	NM_001376.5(DYNC1H1):c.9466C>T (p.Gln3156Ter)	DYNC1H1, LOC126862060 (Q3156*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2741394	NM_001376.5(DYNC1H1):c.9468+18A>C	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2741322	NM_001376.5(DYNC1H1):c.9048+18T>G	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2737769	NM_001376.5(DYNC1H1):c.9411A>G (p.Pro3137=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2726002	NM_001376.5(DYNC1H1):c.9109G>A (p.Ala3037Thr)	DYNC1H1, LOC126862060 (A3037T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2724259	NM_001376.5(DYNC1H1):c.9039C>A (p.Ala3013=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2723076	NM_001376.5(DYNC1H1):c.9081C>T (p.Ala3027=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2721256	NM_001376.5(DYNC1H1):c.9463C>T (p.His3155Tyr)	DYNC1H1, LOC126862060 (H3155Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2720192	NM_001376.5(DYNC1H1):c.9264-15G>A	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2708929	NM_001376.5(DYNC1H1):c.9087_9088delinsTT (p.Leu3029_Met3030delinsPheLeu)	DYNC1H1, LOC126862060	Indel (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2702962	NM_001376.5(DYNC1H1):c.8995G>C (p.Val2999Leu)	DYNC1H1, LOC126862060 (V2999L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2702444	NM_001376.5(DYNC1H1):c.9263+5G>T	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2688985	NM_001376.5(DYNC1H1):c.3961-10T>C	DYNC1H1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688984	NM_001376.5(DYNC1H1):c.2671C>A (p.His891Asn)	DYNC1H1 (H891N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688982	NM_001376.5(DYNC1H1):c.1573C>A (p.Leu525Ile)	DYNC1H1 (L525I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684178	NM_001376.5(DYNC1H1):c.10078A>G (p.Ser3360Gly)	DYNC1H1 (S3360G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683954	NM_001376.5(DYNC1H1):c.2234C>T (p.Thr745Ile)	DYNC1H1 (T745I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2665076	NM_001376.5(DYNC1H1):c.8606G>T (p.Arg2869Leu)	DYNC1H1 (R2869L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GUncertain significance
Select item 2633897	NM_001376.5(DYNC1H1):c.9415C>T (p.His3139Tyr)	DYNC1H1, LOC126862060 (H3139Y)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder	GUncertain significance
Select item 2627075	NM_001376.5(DYNC1H1):c.10198-10T>G	DYNC1H1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2582561	NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)	DYNC1H1 (A2050P)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +2 more	GLikely pathogenic
Select item 2500385	NM_001376.5(DYNC1H1):c.9232C>T (p.Arg3078Trp)	LOC126862060, DYNC1H1 (R3078W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441069	NM_001376.5(DYNC1H1):c.13888G>A (p.Glu4630Lys)	DYNC1H1 (E4630K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441067	NM_001376.5(DYNC1H1):c.6379A>G (p.Ile2127Val)	DYNC1H1 (I2127V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441065	NM_001376.5(DYNC1H1):c.9364G>A (p.Val3122Met)	DYNC1H1, LOC126862060 (V3122M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441064	NM_001376.5(DYNC1H1):c.7184_7186del (p.Gln2395del)	DYNC1H1 (Q2395del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2441062	NM_001376.5(DYNC1H1):c.6760A>G (p.Ile2254Val)	DYNC1H1 (I2254V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441061	NM_001376.5(DYNC1H1):c.253A>G (p.Lys85Glu)	DYNC1H1 (K85E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441060	NM_001376.5(DYNC1H1):c.1772T>C (p.Leu591Pro)	DYNC1H1 (L591P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441058	NM_001376.5(DYNC1H1):c.1475C>T (p.Ala492Val)	DYNC1H1 (A492V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441056	NM_001376.5(DYNC1H1):c.10234C>G (p.Leu3412Val)	DYNC1H1 (L3412V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429843	NM_001376.5(DYNC1H1):c.6512A>T (p.His2171Leu)	DYNC1H1 (H2171L)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429842	NM_001376.5(DYNC1H1):c.4396-1G>C	DYNC1H1	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2429840	NM_001376.5(DYNC1H1):c.10637A>G (p.Asp3546Gly)	DYNC1H1 (D3546G)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429839	NM_001376.5(DYNC1H1):c.10195C>T (p.Gln3399Ter)	DYNC1H1 (Q3399*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2428742	NM_001376.5(DYNC1H1):c.1573C>T (p.Leu525Phe)	DYNC1H1 (L525F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416873	NM_001376.5(DYNC1H1):c.9264-18C>T	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2262612	NM_001376.5(DYNC1H1):c.9107G>A (p.Gly3036Glu)	DYNC1H1, LOC126862060 (G3036E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229969	NM_001376.5(DYNC1H1):c.9389A>T (p.Tyr3130Phe)	DYNC1H1, LOC126862060 (Y3130F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2145505	NM_001376.5(DYNC1H1):c.9049-12G>A	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2143507	NM_001376.5(DYNC1H1):c.9165T>C (p.Thr3055=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2130038	NM_001376.5(DYNC1H1):c.9243A>G (p.Thr3081=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GLikely benign
Select item 2105140	NM_001376.5(DYNC1H1):c.8891del (p.His2964fs)	DYNC1H1, LOC126862060 (H2964fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2103476	NM_001376.5(DYNC1H1):c.9049-18C>T	LOC126862060, DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2103215	NM_001376.5(DYNC1H1):c.2956A>G (p.Met986Val)	DYNC1H1, LOC130056502 (M986V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2095777	NM_001376.5(DYNC1H1):c.9459T>G (p.Thr3153=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2082536	NM_001376.5(DYNC1H1):c.9263+7G>A	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2072920	NM_001376.5(DYNC1H1):c.9073G>A (p.Glu3025Lys)	DYNC1H1, LOC126862060 (E3025K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 2068494	NM_001376.5(DYNC1H1):c.9048+13C>T	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2055004	NM_001376.5(DYNC1H1):c.9276T>C (p.Asn3092=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2049725	NM_001376.5(DYNC1H1):c.8994T>C (p.Asn2998=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2045364	NM_001376.5(DYNC1H1):c.9264-13G>A	DYNC1H1, LOC126862060	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2033725	NM_001376.5(DYNC1H1):c.9117G>A (p.Lys3039=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2029746	NM_001376.5(DYNC1H1):c.9048+4dup	DYNC1H1, LOC126862060	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance

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