773[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 149139	GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1	CACNA1A, DAND5 +58 more	Copy number loss	See cases	GPathogenic
Select item 147360	GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3	CACNA1A, IER2 +50 more	Copy number gain	See cases	GUncertain significance
Select item 146026	GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1	CACNA1A, IER2 +52 more	Copy number loss	See cases	GPathogenic
Select item 2649373	NC_000019.10:g.13198071A>T	CACNA1A	Single nucleotide variant	not provided	GLikely benign
Select item 8512	nsv1067873	LOC130063719, CACNA1A +6 more	Deletion	Episodic ataxia type 2	GPathogenic
Select item 8520	NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del	CACNA1A, LOC108663985 +5 more	Deletion	Migraine, familial hemiplegic, 1	GPathogenic
Select item 8519	NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del	CACNA1A, LOC108663985 +5 more	Deletion	Episodic ataxia type 2	GPathogenic
Select item 3233657	NM_001127222.2(CACNA1A):c.*544C>A	CACNA1A	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3233571	NM_001127222.2(CACNA1A):c.*544C>T	CACNA1A	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 1211720	NM_001127222.2(CACNA1A):c.*302A>G	CACNA1A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1208972	NM_001127222.2(CACNA1A):c.*219A>C	CACNA1A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1292948	NM_001127222.2(CACNA1A):c.*147C>A	CACNA1A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 994535	NM_001127222.2(CACNA1A):c.7512T>C (p.Asp2504=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1694890	NM_001127222.2(CACNA1A):c.7491C>T (p.Pro2497=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 808460	NM_001127222.2(CACNA1A):c.7488A>G (p.Glu2496=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2585588	NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)	CACNA1A (H2501Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 42	GUncertain significance
Select item 3345003	NM_001127222.2(CACNA1A):c.7469C>A (p.Ser2490Tyr)	CACNA1A (S2490Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GUncertain significance
Select item 2498757	NM_001127222.2(CACNA1A):c.7458C>A (p.Arg2486=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3571856	NM_001127222.2(CACNA1A):c.7457G>A (p.Arg2486His)	CACNA1A (R2486H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3389071	NM_001127222.2(CACNA1A):c.7452G>T (p.Arg2484Ser)	CACNA1A (R2484S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1325504	NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg)	CACNA1A (L2482R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 42	GUncertain significance
Select item 1012929	NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)	CACNA1A (G2481R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GUncertain significance
Select item 3049770	NM_001127222.2(CACNA1A):c.7440C>T (p.His2480=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 994534	NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)	CACNA1A (H2480Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 585587	NM_001127222.2(CACNA1A):c.7436C>G (p.Ala2479Gly)	CACNA1A (A2485G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2684119	NM_001127222.2(CACNA1A):c.7433C>T (p.Pro2478Leu)	CACNA1A (P2478L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 257513	NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 804613	NM_001127222.2(CACNA1A):c.7426T>C (p.Tyr2476His)	CACNA1A (Y2476H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 521114	NM_001127222.2(CACNA1A):c.7424G>T (p.Gly2475Val)	CACNA1A (G2475V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3339969	NM_001127222.2(CACNA1A):c.7419C>T (p.Pro2473=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 585586	NM_001127222.2(CACNA1A):c.7409G>A (p.Arg2470Gln)	CACNA1A (R2476Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2649374	NM_001127222.2(CACNA1A):c.7408C>T (p.Arg2470Trp)	CACNA1A (R2470W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 873515	NM_001127222.2(CACNA1A):c.7404C>A (p.His2468Gln)	CACNA1A (H2474Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GUncertain significance
Select item 1335329	NM_001127222.2(CACNA1A):c.7378_7402del (p.Pro2460fs)	CACNA1A (P2460fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 916334	NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)	CACNA1A (R2467P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 448964	NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln)	CACNA1A (R2473Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2231474	NM_001127222.2(CACNA1A):c.7394C>T (p.Pro2465Leu)	CACNA1A (P2465L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1694891	NM_001127222.2(CACNA1A):c.7391C>T (p.Ser2464Leu)	CACNA1A (S2464L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3347680	NM_001127222.2(CACNA1A):c.7376G>T (p.Gly2459Val)	CACNA1A (G2459V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GUncertain significance
Select item 1175941	NM_001127222.2(CACNA1A):c.7369G>T (p.Ala2457Ser)	CACNA1A (A2457S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 995300	NM_001127222.2(CACNA1A):c.7368G>A (p.Arg2456=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 382731	NM_001127222.2(CACNA1A):c.7365C>A (p.Pro2455=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2231485	NM_001127222.2(CACNA1A):c.7349G>A (p.Arg2450His)	CACNA1A (R2450H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 804612	NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys)	CACNA1A (R2456C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 1807104	NM_001127222.2(CACNA1A):c.7347G>A (p.Gly2449=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1694892	NM_001127222.2(CACNA1A):c.7344C>G (p.Thr2448=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1807108	NM_001127222.2(CACNA1A):c.7318_7332dup (p.Ser2444_Ser2445insValArgHisAlaSer)	CACNA1A	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1256312	NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)	CACNA1A (A2443V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Spinocerebellar ataxia type 6 +4 more	GBenign/Likely benign
Select item 977400	NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)	CACNA1A (A2443T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1807103	NM_001127222.2(CACNA1A):c.7322G>A (p.Arg2441Gln)	CACNA1A (R2441Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1805501	NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)	CACNA1A (V2440I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 871683	NM_001127222.2(CACNA1A):c.7317dup (p.Val2440fs)	CACNA1A (V2446fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 975888	NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu)	CACNA1A (P2439L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 42	GUncertain significance
Select item 3044623	NM_001127222.2(CACNA1A):c.7310C>A (p.Pro2437Gln)	CACNA1A (P2437Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GUncertain significance
Select item 546828	NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr)	CACNA1A (A2436T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3026066	NM_001127222.2(CACNA1A):c.7301A>G (p.Tyr2434Cys)	CACNA1A (Y2434C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3050207	NM_001127222.2(CACNA1A):c.7293C>A (p.Ala2431=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 446945	NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr)	CACNA1A (A2437T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1807107	NM_001127222.2(CACNA1A):c.7282G>A (p.Glu2428Lys)	CACNA1A (E2428K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3571935	NM_001127222.2(CACNA1A):c.7267_7275del (p.Ser2423_Gly2425del)	CACNA1A	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 2649375	NM_001127222.2(CACNA1A):c.7275C>T (p.Gly2425=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 585585	NM_001127222.2(CACNA1A):c.7274G>A (p.Gly2425Asp)	CACNA1A (G2431D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 598990	NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)	CACNA1A	Deletion (3 prime UTR variant +1 more)	Abnormal basal ganglia morphology +12 more	GConflicting classifications of pathogenicity
Select item 1879420	NM_001127222.2(CACNA1A):c.7263G>A (p.Pro2421=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1207373	NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)	CACNA1A (P2421L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GLikely benign
Select item 1217897	NM_001127222.2(CACNA1A):c.7261C>G (p.Pro2421Ala)	CACNA1A (P2421A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3045790	NM_001127222.2(CACNA1A):c.7257T>C (p.Asp2419=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 2498758	NM_001127222.2(CACNA1A):c.7254C>T (p.Ala2418=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3046604	NM_001127222.2(CACNA1A):c.7251G>A (p.Glu2417=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 1172824	NM_001127222.2(CACNA1A):c.7249G>T (p.Glu2417Ter)	CACNA1A (E2417* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Cerebral palsy	GLikely pathogenic
Select item 2649376	NM_001127222.2(CACNA1A):c.7242C>T (p.Asp2414=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 585584	NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn)	CACNA1A (D2420N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 871684	NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val)	CACNA1A (G2412V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 932692	NM_001127222.2(CACNA1A):c.7233G>C (p.Arg2411=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3239441	NM_001127222.2(CACNA1A):c.7219C>T (p.His2407Tyr)	CACNA1A (H2407Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1807109	NM_001127222.2(CACNA1A):c.7210C>G (p.Pro2404Ala)	CACNA1A (P2404A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3353065	NM_001127222.2(CACNA1A):c.7209T>G (p.Gly2403=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 2682246	NM_001127222.2(CACNA1A):c.7206G>A (p.Pro2402=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1012930	NM_001127222.2(CACNA1A):c.7203C>T (p.Pro2401=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 585583	NM_001127222.2(CACNA1A):c.7197G>C (p.Glu2399Asp)	CACNA1A (E2405D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1012931	NM_001127222.2(CACNA1A):c.7194C>G (p.Ser2398=)	CACNA1A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1879421	NM_001127222.2(CACNA1A):c.7190T>C (p.Val2397Ala)	CACNA1A (V2397A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 446944	NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met)	CACNA1A (V2403M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1012932	NM_001127222.2(CACNA1A):c.7165C>T (p.Arg2389Trp)	CACNA1A (R2389W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1309655	NM_001127222.2(CACNA1A):c.7160G>A (p.Gly2387Glu)	CACNA1A (G2387E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2649377	NM_001127222.2(CACNA1A):c.7151G>A (p.Arg2384Gln)	CACNA1A (R2384Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1694893	NM_001127222.2(CACNA1A):c.7144G>T (p.Ala2382Ser)	CACNA1A (A2382S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3347423	NM_001127222.2(CACNA1A):c.7139C>T (p.Pro2380Leu)	CACNA1A (P2380L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GLikely benign
Select item 1027688	NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe)	CACNA1A (S2379F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 42	GUncertain significance
Select item 3341430	NM_001127222.2(CACNA1A):c.7133A>C (p.Glu2378Ala)	CACNA1A (E2378A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 42	GUncertain significance
Select item 2636096	NM_001127222.2(CACNA1A):c.7126C>T (p.Arg2376Trp)	CACNA1A (R2376W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder	GUncertain significance

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