ClinVar for Gene (Select 3798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375645	NM_004984.4(KIF5A):c.2668A>G (p.Lys890Glu)	KIF5A (K801E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372319	NM_004984.4(KIF5A):c.340C>T (p.Arg114Ter)	KIF5A (R114*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3368763	NM_004984.4(KIF5A):c.481A>C (p.Asn161His)	KIF5A (N161H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368027	NM_004984.4(KIF5A):c.2091G>C (p.Lys697Asn)	KIF5A (K608N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362322	NM_004984.4(KIF5A):c.957G>A (p.Met319Ile)	KIF5A (M230I +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal	GPathogenic
Select item 3362320	NM_004984.4(KIF5A):c.1355A>G (p.Gln452Arg)	KIF5A (Q363R +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal	GLikely pathogenic
Select item 3361104	NM_004984.4(KIF5A):c.2468T>A (p.Ile823Asn)	KIF5A (I734N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359449	NM_004984.4(KIF5A):c.558A>C (p.Glu186Asp)	KIF5A (E186D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354574	NM_004984.4(KIF5A):c.1671T>C (p.Asp557=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder	GLikely benign
Select item 3354363	NM_004984.4(KIF5A):c.1686T>C (p.Ser562=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder	GLikely benign
Select item 3354172	NM_004984.2:c.2993delG	KIF5A	Deletion	KIF5A-related disorder	GLikely pathogenic
Select item 3353392	NM_004984.4(KIF5A):c.1692T>C (p.Ile564=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder	GLikely benign
Select item 3349519	NM_004984.4(KIF5A):c.715-4G>C	KIF5A	Single nucleotide variant (intron variant)	KIF5A-related disorder	GLikely benign
Select item 3348656	NM_004984.4(KIF5A):c.2166C>G (p.Asn722Lys)	KIF5A (N633K +1 more)	Single nucleotide variant (missense variant)	KIF5A-related disorder	GUncertain significance
Select item 3347644	NM_004984.4(KIF5A):c.805C>A (p.Leu269Met)	KIF5A (L180M +1 more)	Single nucleotide variant (missense variant)	KIF5A-related disorder	GUncertain significance
Select item 3345722	NM_004984.4(KIF5A):c.231C>T (p.Gly77=)	KIF5A	Single nucleotide variant (synonymous variant +1 more)	KIF5A-related disorder	GLikely benign
Select item 3344155	NM_004984.4(KIF5A):c.3097T>C (p.Ter1033Gln)	KIF5A	Single nucleotide variant (stop lost)	KIF5A-related disorder	GUncertain significance
Select item 3338370	NM_004984.4(KIF5A):c.1688T>C (p.Val563Ala)	KIF5A (V474A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 3338325	NM_004984.4(KIF5A):c.1233dup (p.Glu412fs)	KIF5A (E323fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 10	GPathogenic
Select item 3337225	NM_004984.4(KIF5A):c.2266G>T (p.Glu756Ter)	KIF5A (E667* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3337224	NM_004984.4(KIF5A):c.559G>A (p.Gly187Arg)	KIF5A (G187R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3288651	NM_004984.4(KIF5A):c.1540C>T (p.Leu514Phe)	KIF5A (L425F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288650	NM_004984.4(KIF5A):c.1967A>G (p.His656Arg)	KIF5A (H567R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256743	NM_004984.4(KIF5A):c.614G>A (p.Ser205Asn)	KIF5A (S116N +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal	GLikely pathogenic
Select item 3254546	NM_004984.4(KIF5A):c.1491C>G (p.Asn497Lys)	KIF5A (N408K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3244243	NC_000012.11:g.(?_57966343)_(57966529_?)del	KIF5A	Deletion	Spastic paraplegia	GUncertain significance
Select item 3235264	NM_004984.4(KIF5A):c.806T>C (p.Leu269Pro)	KIF5A (L180P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 3234660	NM_004984.4(KIF5A):c.1272C>G (p.Leu424=)	KIF5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3114947	NM_004984.4(KIF5A):c.362A>G (p.Tyr121Cys)	KIF5A (Y121C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061145	NM_004984.4(KIF5A):c.2463G>C (p.Gly821=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder	GLikely benign
Select item 3057866	NM_004984.4(KIF5A):c.2434-8G>C	KIF5A	Single nucleotide variant (intron variant)	KIF5A-related disorder	GLikely benign
Select item 3049811	NM_004984.4(KIF5A):c.1906-4C>T	KIF5A	Single nucleotide variant (intron variant)	KIF5A-related disorder	GLikely benign
Select item 3044448	NM_004984.4(KIF5A):c.2667C>T (p.Asp889=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder	GLikely benign
Select item 3033623	NM_004984.4(KIF5A):c.575A>C (p.His192Pro)	KIF5A (H103P +1 more)	Single nucleotide variant (missense variant)	KIF5A-related disorder	GUncertain significance
Select item 3025752	NM_004984.4(KIF5A):c.2813C>T (p.Thr938Ile)	KIF5A (T849I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023873	NM_004984.4(KIF5A):c.1557G>A (p.Leu519=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3023536	NM_004984.4(KIF5A):c.2755+9G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3023079	NM_004984.4(KIF5A):c.475G>T (p.Asp159Tyr)	KIF5A (D159Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3022200	NM_004984.4(KIF5A):c.304G>A (p.Asp102Asn)	KIF5A (D102N)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3022091	NM_004984.4(KIF5A):c.124A>G (p.Ile42Val)	KIF5A (I42V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3020996	NM_004984.4(KIF5A):c.2083G>A (p.Val695Met)	KIF5A (V606M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3020647	NM_004984.4(KIF5A):c.1728C>T (p.Ile576=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3019998	NM_004984.4(KIF5A):c.217+6A>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 3019395	NM_004984.4(KIF5A):c.577G>A (p.Val193Met)	KIF5A (V104M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 3018503	NM_004984.4(KIF5A):c.396+5C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 3018186	NM_004984.4(KIF5A):c.2089-11del	KIF5A	Deletion (intron variant)	Spastic paraplegia	GBenign
Select item 3017008	NM_004984.4(KIF5A):c.2155G>T (p.Asp719Tyr)	KIF5A (D719Y +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3016817	NM_004984.4(KIF5A):c.2422C>A (p.Arg808=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3016530	NM_004984.4(KIF5A):c.1906-15A>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 3015979	NM_004984.4(KIF5A):c.427A>C (p.Ile143Leu)	KIF5A (I143L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3015559	NM_004984.4(KIF5A):c.1743G>A (p.Glu581=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3015245	NM_004984.4(KIF5A):c.1946G>A (p.Ser649Asn)	KIF5A (S649N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 3014071	NM_004984.4(KIF5A):c.1849C>G (p.Arg617Gly)	KIF5A (R528G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3013951	NM_004984.4(KIF5A):c.1958A>G (p.Lys653Arg)	KIF5A (K564R +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3013113	NM_004984.4(KIF5A):c.1660C>T (p.Leu554=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3012493	NM_004984.4(KIF5A):c.2539-15T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3009106	NM_004984.4(KIF5A):c.2719A>G (p.Lys907Glu)	KIF5A (K907E +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3008117	NM_004984.4(KIF5A):c.2433+8C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3006333	NM_004984.4(KIF5A):c.164C>G (p.Pro55Arg)	KIF5A (P55R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3006041	NM_004984.4(KIF5A):c.2909+10C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3005296	NM_004984.4(KIF5A):c.128G>C (p.Gly43Ala)	KIF5A (G43A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3005128	NM_004984.4(KIF5A):c.1717-12T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3004147	NM_004984.4(KIF5A):c.2993-20C>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3003234	NM_004984.4(KIF5A):c.1294-10C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 3003171	NM_004984.4(KIF5A):c.2653G>A (p.Gly885Ser)	KIF5A (G885S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3001470	NM_004984.4(KIF5A):c.1194T>C (p.Pro398=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 3001304	NM_004984.4(KIF5A):c.1124A>G (p.Asn375Ser)	KIF5A (N286S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2996205	NM_004984.4(KIF5A):c.2434-14C>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2995414	NM_004984.4(KIF5A):c.3086C>T (p.Thr1029Ile)	KIF5A (T1029I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2993125	NM_004984.4(KIF5A):c.2738G>T (p.Gly913Val)	KIF5A (G824V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2991924	NM_004984.4(KIF5A):c.2629G>A (p.Gly877Ser)	KIF5A (G788S +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2984835	NM_004984.4(KIF5A):c.502-17C>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2982452	NM_004984.4(KIF5A):c.1894C>T (p.Leu632Phe)	KIF5A (L543F +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2979962	NM_004984.4(KIF5A):c.1816C>T (p.Arg606Trp)	KIF5A (R517W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2977340	NM_004984.4(KIF5A):c.2538+9C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2976630	NM_004984.4(KIF5A):c.243C>T (p.Thr81=)	KIF5A	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2976585	NM_004984.4(KIF5A):c.1267C>T (p.Arg423Cys)	KIF5A (R334C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2975579	NM_004984.4(KIF5A):c.334A>G (p.Ile112Val)	KIF5A (I112V)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2974290	NM_004984.4(KIF5A):c.590-10G>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2970160	NM_004984.4(KIF5A):c.1194T>G (p.Pro398=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2966124	NM_004984.4(KIF5A):c.1252G>A (p.Glu418Lys)	KIF5A (E418K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2963988	NM_004984.4(KIF5A):c.1905+5G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 2961067	NM_004984.4(KIF5A):c.1637G>T (p.Arg546Leu)	KIF5A (R546L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2959953	NM_004984.4(KIF5A):c.922A>G (p.Ser308Gly)	KIF5A (S219G +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2959616	NM_004984.4(KIF5A):c.1959G>A (p.Lys653=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2959047	NM_004984.4(KIF5A):c.2198+16G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2955150	NM_004984.4(KIF5A):c.2167G>A (p.Glu723Lys)	KIF5A (E634K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2917458	NM_004984.4(KIF5A):c.969-9C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2917300	NM_004984.4(KIF5A):c.1293+7G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2917252	NM_004984.4(KIF5A):c.621C>T (p.Ser207=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2916347	NM_004984.4(KIF5A):c.163C>G (p.Pro55Ala)	KIF5A (P55A)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2915888	NM_004984.4(KIF5A):c.1402C>T (p.Arg468Trp)	KIF5A (R379W +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2914547	NM_004984.4(KIF5A):c.1144C>T (p.Leu382=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2913812	NM_004984.4(KIF5A):c.2578A>C (p.Lys860Gln)	KIF5A (K771Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2912433	NM_004984.4(KIF5A):c.2550C>T (p.Asp850=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2911982	NM_004984.4(KIF5A):c.2199-15del	KIF5A	Deletion (intron variant)	Spastic paraplegia	GLikely benign
Select item 2911865	NM_004984.4(KIF5A):c.714+7G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2911721	NM_004984.4(KIF5A):c.2118C>T (p.His706=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2911027	NM_004984.4(KIF5A):c.2180C>A (p.Thr727Asn)	KIF5A (T638N +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance

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