CACNA2D4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147092	GRCh38/hg38 12p13.33(chr12:54452-2558097)x1	ADIPOR2, B4GALNT3 +101 more	Copy number loss	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 58206	GRCh38/hg38 12p13.33(chr12:1453550-2575642)x3	ADIPOR2, CACNA1C +49 more	Copy number gain	See cases	GUncertain significance
Select item 146064	GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3	ADIPOR2, CACNA1C +22 more	Copy number gain	See cases	GUncertain significance
Select item 881555	NM_172364.5(CACNA2D4):c.*1690C>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 881556	NM_172364.5(CACNA2D4):c.*1634A>T	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307791	NM_172364.5(CACNA2D4):c.*1632G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307792	NM_172364.5(CACNA2D4):c.*1624G>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4 +1 more	GBenign
Select item 307793	NM_172364.5(CACNA2D4):c.*1621G>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307794	NM_172364.5(CACNA2D4):c.*1615G>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307795	NM_172364.5(CACNA2D4):c.*1613T>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307796	NM_172364.5(CACNA2D4):c.*1597G>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GLikely benign
Select item 307797	NM_172364.5(CACNA2D4):c.*1596G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GBenign
Select item 307798	NM_172364.5(CACNA2D4):c.*1572G>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307799	NM_172364.5(CACNA2D4):c.*1557A>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GBenign
Select item 882716	NM_172364.5(CACNA2D4):c.*1556T>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GBenign
Select item 882717	NM_172364.5(CACNA2D4):c.*1497G>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307800	NM_172364.5(CACNA2D4):c.*1488C>T	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307801	NM_172364.5(CACNA2D4):c.1428_1429insGAG	CACNA2D4	Insertion (3 prime UTR variant)	Cone dystrophy 3	GBenign
Select item 307802	NM_172364.5(CACNA2D4):c.*1403C>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GLikely benign
Select item 307803	NM_172364.5(CACNA2D4):c.*1387G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4 +1 more	GBenign
Select item 307804	NM_172364.5(CACNA2D4):c.*1364T>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307805	NM_172364.5(CACNA2D4):c.*1360G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4 +1 more	GBenign
Select item 307806	NM_172364.5(CACNA2D4):c.*1336C>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4 +1 more	GBenign
Select item 307807	NM_172364.5(CACNA2D4):c.*1334A>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GLikely benign
Select item 307808	NM_172364.5(CACNA2D4):c.*1275T>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4 +1 more	GBenign
Select item 307809	NM_172364.5(CACNA2D4):c.*1271C>T	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 883495	NM_172364.5(CACNA2D4):c.*1245T>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307810	NM_172364.5(CACNA2D4):c.*1217C>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GBenign
Select item 307811	NM_172364.5(CACNA2D4):c.*1202del	CACNA2D4	Deletion (3 prime UTR variant)	Cone dystrophy 3	GBenign
Select item 307812	NM_172364.5(CACNA2D4):c.*1200C>T	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307813	NM_172364.5(CACNA2D4):c.*1177G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307814	NM_172364.5(CACNA2D4):c.*1114G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307815	NM_172364.5(CACNA2D4):c.*1078del	CACNA2D4	Deletion (3 prime UTR variant)	Cone dystrophy 3	GLikely benign
Select item 307816	NM_172364.5(CACNA2D4):c.*954G>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 881127	NM_172364.5(CACNA2D4):c.*796G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GBenign
Select item 307817	NM_172364.5(CACNA2D4):c.*789A>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307818	NM_172364.5(CACNA2D4):c.*783A>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307819	NM_172364.5(CACNA2D4):c.*657G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4 +1 more	GBenign
Select item 307820	NM_172364.5(CACNA2D4):c.*583G>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307821	NM_172364.5(CACNA2D4):c.*513G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307822	NM_172364.5(CACNA2D4):c.*467A>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4 +1 more	GBenign
Select item 307823	NM_172364.5(CACNA2D4):c.*463G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307824	NM_172364.5(CACNA2D4):c.*425G>A	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Cone dystrophy 3	GUncertain significance
Select item 881600	NM_172364.5(CACNA2D4):c.*380C>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307825	NM_172364.5(CACNA2D4):c.*123A>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 307826	NM_172364.5(CACNA2D4):c.*112C>T	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307827	NM_172364.5(CACNA2D4):c.*73G>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 307828	NM_172364.5(CACNA2D4):c.*55A>C	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 882755	NM_172364.5(CACNA2D4):c.*18T>G	CACNA2D4	Single nucleotide variant (3 prime UTR variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 1651426	NM_172364.5(CACNA2D4):c.3391C>T (p.Leu1131=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469827	NM_172364.5(CACNA2D4):c.3386G>C (p.Trp1129Ser)	CACNA2D4 (W1129S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1119814	NM_172364.5(CACNA2D4):c.3381T>C (p.Cys1127=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923486	NM_172364.5(CACNA2D4):c.3378G>T (p.Val1126=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962040	NM_172364.5(CACNA2D4):c.3376G>A (p.Val1126Met)	CACNA2D4 (V1126M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946825	NM_172364.5(CACNA2D4):c.3363A>G (p.Leu1121=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 307829	NM_172364.5(CACNA2D4):c.3357G>A (p.Pro1119=)	CACNA2D4	Single nucleotide variant (synonymous variant)	Retinal cone dystrophy 4	GUncertain significance
Select item 1933147	NM_172364.5(CACNA2D4):c.3356C>A (p.Pro1119Gln)	CACNA2D4 (P1119Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 307830	NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu)	CACNA2D4 (P1119L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307831	NM_172364.5(CACNA2D4):c.3354G>A (p.Ser1118=)	CACNA2D4	Single nucleotide variant (synonymous variant)	Retinal cone dystrophy 4 +1 more	GConflicting classifications of pathogenicity
Select item 2162525	NM_172364.5(CACNA2D4):c.3353C>T (p.Ser1118Leu)	CACNA2D4 (S1118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407117	NM_172364.5(CACNA2D4):c.3349del (p.Ala1117fs)	CACNA2D4 (A1117fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 307832	NM_172364.5(CACNA2D4):c.3348A>T (p.Ser1116=)	CACNA2D4	Single nucleotide variant (synonymous variant)	Retinal cone dystrophy 4 +1 more	GConflicting classifications of pathogenicity
Select item 2878653	NM_172364.5(CACNA2D4):c.3344C>A (p.Thr1115Asn)	CACNA2D4 (T1115N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087880	NM_172364.5(CACNA2D4):c.3341A>G (p.Asp1114Gly)	CACNA2D4 (D1114G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 307833	NM_172364.5(CACNA2D4):c.3339G>A (p.Ser1113=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1005797	NM_172364.5(CACNA2D4):c.3338C>T (p.Ser1113Leu)	CACNA2D4 (S1113L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 954436	NM_172364.5(CACNA2D4):c.3334G>A (p.Ala1112Thr)	CACNA2D4 (A1112T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 851403	NM_172364.5(CACNA2D4):c.3333C>T (p.Gly1111=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966011	NM_172364.5(CACNA2D4):c.3331G>A (p.Gly1111Ser)	CACNA2D4 (G1111S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197051	NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1018243	NM_172364.5(CACNA2D4):c.3329G>A (p.Gly1110Asp)	CACNA2D4 (G1110D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922836	NM_172364.5(CACNA2D4):c.3328G>A (p.Gly1110Ser)	CACNA2D4 (G1110S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640224	NM_172364.5(CACNA2D4):c.3327C>T (p.Cys1109=)	CACNA2D4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405909	NM_172364.5(CACNA2D4):c.3325T>G (p.Cys1109Gly)	CACNA2D4 (C1109G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045114	NM_172364.5(CACNA2D4):c.3325T>C (p.Cys1109Arg)	CACNA2D4 (C1109R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853161	NM_172364.5(CACNA2D4):c.3323A>C (p.Asp1108Ala)	CACNA2D4 (D1108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511243	NM_172364.5(CACNA2D4):c.3317C>A (p.Ala1106Asp)	CACNA2D4 (A1106D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179078	NM_172364.5(CACNA2D4):c.3314A>C (p.Asn1105Thr)	CACNA2D4 (N1105T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376207	NM_172364.5(CACNA2D4):c.3310-1G>A	CACNA2D4	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 883548	NM_172364.5(CACNA2D4):c.3310-4G>T	CACNA2D4	Single nucleotide variant (intron variant)	Retinal cone dystrophy 4 +1 more	GConflicting classifications of pathogenicity

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