LOC126862864[gene] - ClinVar

Search results

Items: 86

	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 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 146026	GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1	CACNA1A, IER2 +52 more	Copy number loss	See cases	GPathogenic
Select item 8518	NC_000019.10:g.(13214609_13224667)_(13286966_13300549)del	CACNA1A, LOC121852980 +7 more	Deletion	Episodic ataxia type 2	GPathogenic
Select item 2934393	NM_001127222.2(CACNA1A):c.4250+19G>A	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 3339575	NM_001127222.2(CACNA1A):c.4250+16C>T	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1937368	NM_001127222.2(CACNA1A):c.4250+16C>G	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2181318	NM_001127222.2(CACNA1A):c.4250+15T>G	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 1564894	NM_001127222.2(CACNA1A):c.4250+15T>C	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2943243	NM_001127222.2(CACNA1A):c.4250+13T>C	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2131235	NM_001127222.2(CACNA1A):c.4250+11A>G	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 1124472	NM_001127222.2(CACNA1A):c.4250+10C>T	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 2684116	NM_001127222.2(CACNA1A):c.4250+4G>C	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2603838	NM_001127222.2(CACNA1A):c.4250+4G>A	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3239467	NM_001127222.2(CACNA1A):c.4250+2T>G	LOC126862864, CACNA1A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1012936	NM_001127222.2(CACNA1A):c.4250+1G>C	CACNA1A, LOC126862864	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1804714	NM_001127222.2(CACNA1A):c.4250G>T (p.Arg1417Leu)	CACNA1A, LOC126862864 (R1417L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585572	NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln)	CACNA1A, LOC126862864 (R1418Q +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 862804	NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter)	CACNA1A, LOC126862864 (R1418* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 3026943	NM_001127222.2(CACNA1A):c.4247G>T (p.Cys1416Phe)	CACNA1A, LOC126862864 (C1416F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664979	NM_001127222.2(CACNA1A):c.4242del (p.Asp1415fs)	CACNA1A, LOC126862864 (D1415fs +2 more)	Deletion (frameshift variant)	Episodic ataxia type 2	GLikely pathogenic
Select item 3345957	NM_001127222.2(CACNA1A):c.4239G>A (p.Glu1413=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	CACNA1A-related disorder	GLikely benign
Select item 2688700	NM_001127222.2(CACNA1A):c.4233G>A (p.Glu1411=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 500602	NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu)	CACNA1A, LOC126862864 (K1411E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 283176	NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2572485	NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter)	CACNA1A, LOC126862864 (C1405* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 42	GLikely pathogenic
Select item 1801110	NM_001127222.2(CACNA1A):c.4210C>T (p.His1404Tyr)	CACNA1A, LOC126862864 (H1404Y +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +2 more	GUncertain significance
Select item 1700072	NM_001127222.2(CACNA1A):c.4208T>C (p.Phe1403Ser)	CACNA1A, LOC126862864 (F1403S +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 8508	NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys)	CACNA1A, LOC126862864 (F1406C +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GPathogenic
Select item 2034339	NM_001127222.2(CACNA1A):c.4203del (p.Lys1401fs)	CACNA1A, LOC126862864 (K1401fs +2 more)	Deletion (frameshift variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 1081583	NM_001127222.2(CACNA1A):c.4203A>G (p.Lys1401=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 3339881	NM_001127222.2(CACNA1A):c.4202A>T (p.Lys1401Ile)	CACNA1A, LOC126862864 (K1401I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1513410	NM_001127222.2(CACNA1A):c.4202A>G (p.Lys1401Arg)	CACNA1A, LOC126862864 (K1402R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 947721	NM_001127222.2(CACNA1A):c.4199G>C (p.Gly1400Ala)	CACNA1A, LOC126862864 (G1400A +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 446924	NM_001127222.2(CACNA1A):c.4199G>A (p.Gly1400Glu)	CACNA1A, LOC126862864 (G1401E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579827	NM_001127222.2(CACNA1A):c.4197G>C (p.Lys1399Asn)	CACNA1A, LOC126862864 (K1399N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764513	NM_001127222.2(CACNA1A):c.4197G>A (p.Lys1399=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 1703758	NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)	CACNA1A, LOC126862864 (F1398L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42	GUncertain significance
Select item 2032867	NM_001127222.2(CACNA1A):c.4193T>C (p.Phe1398Ser)	CACNA1A, LOC126862864 (F1402S +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2582967	NM_001127222.2(CACNA1A):c.4188G>C (p.Gln1396His)	CACNA1A, LOC126862864 (Q1396H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2945104	NM_001127222.2(CACNA1A):c.4179G>A (p.Val1393=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 1522436	NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)	CACNA1A, LOC126862864 (V1393A +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely pathogenic
Select item 1285568	NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu)	CACNA1A, LOC126862864 (V1392L +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GConflicting classifications of pathogenicity
Select item 659173	NM_001127222.2(CACNA1A):c.4173_4174insATCTTC (p.Ala1391_Val1392insIlePhe)	CACNA1A, LOC126862864	Insertion (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 280773	NM_001127222.2(CACNA1A):c.4174G>C (p.Val1392Leu)	CACNA1A, LOC126862864 (V1393L +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 195935	NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	CACNA1A, LOC126862864 (V1393M +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +7 more	GPathogenic/Likely pathogenic
Select item 1097124	NM_001127222.2(CACNA1A):c.4173C>T (p.Ala1391=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2951541	NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)	CACNA1A, LOC126862864 (A1391V +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GPathogenic
Select item 1502882	NM_001127222.2(CACNA1A):c.4171G>T (p.Ala1391Ser)	CACNA1A, LOC126862864 (A1392S +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 1105132	NM_001127222.2(CACNA1A):c.4170C>T (p.Phe1390=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 1392781	NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr)	CACNA1A, LOC126862864 (I1389T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2940622	NM_001127222.2(CACNA1A):c.4154T>C (p.Leu1385Pro)	CACNA1A, LOC126862864 (L1386P +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2443646	NM_001127222.2(CACNA1A):c.4152G>C (p.Met1384Ile)	CACNA1A, LOC126862864 (M1384I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878867	NM_001127222.2(CACNA1A):c.4150A>C (p.Met1384Leu)	CACNA1A, LOC126862864 (M1384L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8499	NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys)	CACNA1A, LOC126862864 (Y1383C +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GPathogenic
Select item 1520580	NM_001127222.2(CACNA1A):c.4144G>T (p.Val1382Phe)	CACNA1A, LOC126862864 (V1386F +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 1101771	NM_001127222.2(CACNA1A):c.4143C>T (p.Ile1381=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 1304930	NM_001127222.2(CACNA1A):c.4142T>C (p.Ile1381Thr)	CACNA1A, LOC126862864 (I1381T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345295	NM_001127222.2(CACNA1A):c.4141A>G (p.Ile1381Val)	CACNA1A, LOC126862864 (I1381V +2 more)	Single nucleotide variant (missense variant)	CACNA1A-related disorder	GUncertain significance
Select item 650899	NM_001127222.2(CACNA1A):c.4135A>T (p.Ile1379Phe)	CACNA1A, LOC126862864 (I1380F +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2439633	NM_001127222.2(CACNA1A):c.4131C>T (p.Phe1377=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 585571	NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3062038	NM_001127222.2(CACNA1A):c.4115C>T (p.Ser1372Leu)	CACNA1A, LOC126862864 (S1372L +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 1450280	NM_001127222.2(CACNA1A):c.4107G>A (p.Val1369=)	CACNA1A, LOC126862864	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 976099	NM_001127222.2(CACNA1A):c.4103G>C (p.Cys1368Ser)	CACNA1A, LOC126862864 (C1368S +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 280762	NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg)	CACNA1A, LOC126862864 (C1369R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +2 more	GConflicting classifications of pathogenicity
Select item 2948701	NM_001127222.2(CACNA1A):c.4095_4096del (p.Val1365_Phe1366insTer)	CACNA1A, LOC126862864	Microsatellite (frameshift variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 379829	NM_001127222.2(CACNA1A):c.4096T>A (p.Phe1366Ile)	CACNA1A, LOC126862864 (F1367I +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1438760	NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu)	CACNA1A, LOC126862864 (V1369E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 2034801	NM_001127222.2(CACNA1A):c.4091C>A (p.Ala1364Asp)	CACNA1A, LOC126862864 (A1368D +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 2935614	NM_001127222.2(CACNA1A):c.4090-3C>T	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 444450	NM_001127222.2(CACNA1A):c.4090-3C>G	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1608799	NM_001127222.2(CACNA1A):c.4090-4A>G	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 446922	NM_001127222.2(CACNA1A):c.4090-9A>T	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1602244	NM_001127222.2(CACNA1A):c.4090-16C>G	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +1 more	GLikely benign
Select item 2926565	NM_001127222.2(CACNA1A):c.4090-24CT[2]	CACNA1A, LOC126862864	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely benign
Select item 678177	NM_001127222.2(CACNA1A):c.4090-165G>A	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678176	NM_001127222.2(CACNA1A):c.4090-207T>G	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187398	NM_001127222.2(CACNA1A):c.4090-313T>C	CACNA1A, LOC126862864	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 86