ClinVar for Gene (Select 778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370342	NM_001256789.3(CACNA1F):c.2969G>A (p.Gly990Glu)	CACNA1F (G1001E +2 more)	Single nucleotide variant (missense variant)	Ocular albinism, type II	GUncertain significance
Select item 3359844	NM_001256789.3(CACNA1F):c.1403C>T (p.Thr468Ile)	CACNA1F (T414I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357944	NM_001256789.3(CACNA1F):c.276-8C>T	CACNA1F	Single nucleotide variant (intron variant)	CACNA1F-related disorder	GLikely benign
Select item 3353008	NM_001256789.3(CACNA1F):c.2086-7C>T	CACNA1F	Single nucleotide variant (intron variant)	CACNA1F-related disorder	GLikely benign
Select item 3348620	NM_001256789.3(CACNA1F):c.2543C>T (p.Pro848Leu)	CACNA1F (P794L +2 more)	Single nucleotide variant (missense variant)	CACNA1F-related disorder	GUncertain significance
Select item 3342006	NM_001256789.3(CACNA1F):c.4490T>G (p.Leu1497Arg)	CACNA1F, LOC126863257 (L1443R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338318	NM_001256789.3(CACNA1F):c.3500del (p.Pro1167fs)	CACNA1F (P1113fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GPathogenic
Select item 3262748	NM_001256789.3(CACNA1F):c.2137T>C (p.Tyr713His)	CACNA1F (Y659H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3262746	NM_001256789.3(CACNA1F):c.1655A>G (p.Tyr552Cys)	CACNA1F (Y498C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262745	NM_001256789.3(CACNA1F):c.1553A>G (p.Asn518Ser)	CACNA1F (N529S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262744	NM_001256789.3(CACNA1F):c.2137T>A (p.Tyr713Asn)	CACNA1F (Y724N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262743	NM_001256789.3(CACNA1F):c.2543+2T>C	CACNA1F	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 3262742	NM_001256789.3(CACNA1F):c.4289T>C (p.Met1430Thr)	CACNA1F (M1376T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262741	NM_001256789.3(CACNA1F):c.5519C>T (p.Pro1840Leu)	CACNA1F (P1840L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262740	NM_001256789.3(CACNA1F):c.1561T>C (p.Tyr521His)	CACNA1F (Y521H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262739	NM_001256789.3(CACNA1F):c.2926A>C (p.Lys976Gln)	CACNA1F (K987Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262738	NM_001256789.3(CACNA1F):c.162C>G (p.His54Gln)	CACNA1F (H54Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3252878	NM_001256789.3(CACNA1F):c.446A>C (p.Tyr149Ser)	CACNA1F (Y149S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239582	NM_001256789.3(CACNA1F):c.342del (p.Phe115fs)	CACNA1F (F115fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3239455	NM_001256789.3(CACNA1F):c.431_432dup (p.Lys145fs)	CACNA1F (K145fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3136350	NM_001256789.3(CACNA1F):c.5440C>T (p.Arg1814Cys)	CACNA1F (R1814C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136349	NM_001256789.3(CACNA1F):c.5330G>A (p.Arg1777His)	CACNA1F (R1788H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136348	NM_001256789.3(CACNA1F):c.5254G>A (p.Ala1752Thr)	CACNA1F (A1698T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136347	NM_001256789.3(CACNA1F):c.3629C>A (p.Ala1210Asp)	CACNA1F (A1156D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136345	NM_001256789.3(CACNA1F):c.3190G>T (p.Ala1064Ser)	CACNA1F (A1010S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136344	NM_001256789.3(CACNA1F):c.1360A>T (p.Ser454Cys)	CACNA1F (S400C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136343	NM_001256789.3(CACNA1F):c.1343G>T (p.Arg448Leu)	CACNA1F (R394L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066214	NM_001256789.3(CACNA1F):c.3591_3595dup (p.Gln1199fs)	CACNA1F (Q1145fs +2 more)	Duplication (frameshift variant)	X-linked cone-rod dystrophy 3	GLikely pathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3049336	NM_001256789.3(CACNA1F):c.198G>A (p.Gln66=)	CACNA1F	Single nucleotide variant (synonymous variant +1 more)	CACNA1F-related disorder	GLikely benign
Select item 3044746	NM_001256789.3(CACNA1F):c.180G>A (p.Val60=)	CACNA1F	Single nucleotide variant (synonymous variant +1 more)	CACNA1F-related disorder	GLikely benign
Select item 3030678	NM_001256789.3(CACNA1F):c.382-3dup	CACNA1F	Duplication (intron variant)	CACNA1F-related disorder	GLikely benign
Select item 3023880	NM_001256789.3(CACNA1F):c.4934A>T (p.Lys1645Met)	CACNA1F, LOC126863257 (K1591M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020936	NM_001256789.3(CACNA1F):c.3778G>A (p.Val1260Ile)	CACNA1F (V1271I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015322	NM_001256789.3(CACNA1F):c.3439C>T (p.Arg1147Cys)	CACNA1F (R1158C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007754	NM_001256789.3(CACNA1F):c.1514G>A (p.Arg505Gln)	CACNA1F (R451Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003898	NM_001256789.3(CACNA1F):c.3597+20C>T	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002757	NM_001256789.3(CACNA1F):c.851C>G (p.Ala284Gly)	CACNA1F (A284G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002466	NM_001256789.3(CACNA1F):c.1538G>C (p.Arg513Pro)	CACNA1F (R459P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001990	NM_001256789.3(CACNA1F):c.1877+12G>A	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001773	NM_001256789.3(CACNA1F):c.3127C>T (p.Arg1043Trp)	CACNA1F (R1043W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001587	NM_001256789.3(CACNA1F):c.664+9C>T	CACNA1F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2999689	NM_001256789.3(CACNA1F):c.164G>A (p.Ser55Asn)	CACNA1F (S55N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999209	NM_001256789.3(CACNA1F):c.3708+15C>G	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997015	NM_001256789.3(CACNA1F):c.1496G>A (p.Arg499His)	CACNA1F (R445H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996662	NM_001256789.3(CACNA1F):c.4524G>T (p.Gly1508=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993649	NM_001256789.3(CACNA1F):c.4545A>G (p.Thr1515=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991773	NM_001256789.3(CACNA1F):c.247C>T (p.Arg83Trp)	CACNA1F (R83W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987595	NM_001256789.3(CACNA1F):c.4822-8C>A	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987204	NM_001256789.3(CACNA1F):c.4180G>C (p.Gly1394Arg)	CACNA1F (G1394R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2986168	NM_001256789.3(CACNA1F):c.1276+20C>T	CACNA1F	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2986155	NM_001256789.3(CACNA1F):c.4287C>A (p.Ile1429=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985076	NM_001256789.3(CACNA1F):c.4557G>A (p.Leu1519=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978527	NM_001256789.3(CACNA1F):c.2628C>T (p.Ser876=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977877	NM_001256789.3(CACNA1F):c.5585G>A (p.Arg1862His)	CACNA1F (R1862H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977850	NM_001256789.3(CACNA1F):c.3090-11C>G	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977674	NM_001256789.3(CACNA1F):c.4682C>T (p.Pro1561Leu)	CACNA1F, LOC126863257 (P1572L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976749	NM_001256789.3(CACNA1F):c.3854G>A (p.Arg1285His)	CACNA1F (R1296H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974920	NM_001256789.3(CACNA1F):c.2873G>A (p.Arg958Gln)	CACNA1F (R904Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971278	NM_001256789.3(CACNA1F):c.3200C>G (p.Ala1067Gly)	CACNA1F (A1067G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968477	NM_001256789.3(CACNA1F):c.4861C>T (p.Arg1621Trp)	CACNA1F, LOC126863257 (R1621W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968073	NM_001256789.3(CACNA1F):c.3639C>T (p.Ile1213=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966761	NM_001256789.3(CACNA1F):c.664+18C>T	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965919	NM_001256789.3(CACNA1F):c.1877+19G>C	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958661	NM_001256789.3(CACNA1F):c.4486-11C>G	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958368	NM_001256789.3(CACNA1F):c.1407G>C (p.Glu469Asp)	CACNA1F (E469D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957253	NM_001256789.3(CACNA1F):c.3478C>T (p.Arg1160Cys)	CACNA1F (R1106C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907577	NM_001256789.3(CACNA1F):c.3437A>G (p.Gln1146Arg)	CACNA1F (Q1092R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907479	NM_001256789.3(CACNA1F):c.468C>A (p.Ser156Arg)	CACNA1F (S91R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904840	NM_001256789.3(CACNA1F):c.3791A>G (p.Asn1264Ser)	CACNA1F (N1210S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903831	NM_001256789.3(CACNA1F):c.1231G>A (p.Ala411Thr)	CACNA1F (A411T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899946	NM_001256789.3(CACNA1F):c.1102C>T (p.Leu368Phe)	CACNA1F (L303F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895903	NM_001256789.3(CACNA1F):c.1595C>T (p.Thr532Met)	CACNA1F (T478M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2881593	NM_001256789.3(CACNA1F):c.4538A>G (p.Asn1513Ser)	CACNA1F, LOC126863257 (N1513S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875773	NM_001256789.3(CACNA1F):c.4588+3G>T	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2874584	NM_001256789.3(CACNA1F):c.3512G>C (p.Arg1171Pro)	CACNA1F (R1182P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874333	NM_001256789.3(CACNA1F):c.202T>A (p.Ser68Thr)	CACNA1F (S68T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870555	NM_001256789.3(CACNA1F):c.4261-18T>C	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870347	NM_001256789.3(CACNA1F):c.1014+8G>A	CACNA1F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2869726	NM_001256789.3(CACNA1F):c.2840+8A>G	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869500	NM_001256789.3(CACNA1F):c.951C>A (p.Phe317Leu)	CACNA1F (F252L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868543	NM_001256789.3(CACNA1F):c.828G>A (p.Ala276=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868375	NM_001256789.3(CACNA1F):c.901G>C (p.Gly301Arg)	CACNA1F (G236R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867584	NM_001256789.3(CACNA1F):c.1194G>A (p.Glu398=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866681	NM_001256789.3(CACNA1F):c.3048C>T (p.Tyr1016=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863477	NM_001256789.3(CACNA1F):c.2086-2A>C	CACNA1F	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2862868	NM_001256789.3(CACNA1F):c.2418G>A (p.Glu806=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859844	NM_001256789.3(CACNA1F):c.2674-4C>T	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858577	NM_001256789.3(CACNA1F):c.553G>T (p.Gly185Ter)	CACNA1F (G120* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2857885	NM_001256789.3(CACNA1F):c.917C>T (p.Pro306Leu)	CACNA1F (P241L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857058	NM_001256789.3(CACNA1F):c.5651C>G (p.Ala1884Gly)	CACNA1F (A1830G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856676	NM_001256789.3(CACNA1F):c.3943-11dup	CACNA1F	Duplication (intron variant)	not provided	GBenign
Select item 2856672	NM_001256789.3(CACNA1F):c.3597+2T>C	CACNA1F	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2855868	NM_001256789.3(CACNA1F):c.2386G>A (p.Asp796Asn)	CACNA1F (D796N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854824	NM_001256789.3(CACNA1F):c.1728C>T (p.Ala576=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854373	NM_001256789.3(CACNA1F):c.3295C>G (p.Arg1099Gly)	CACNA1F (R1099G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847844	NM_001256789.3(CACNA1F):c.3635A>T (p.Asp1212Val)	CACNA1F (D1223V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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