ClinVar for Gene (Select 126863257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2987595	NM_001256789.3(CACNA1F):c.4822-8C>A	CACNA1F, LOC126863257	Single nucleotide variant (intron 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 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 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 2958661	NM_001256789.3(CACNA1F):c.4486-11C>G	LOC126863257, CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2835621	NM_001256789.3(CACNA1F):c.4562G>C (p.Arg1521Pro)	CACNA1F, LOC126863257 (R1532P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817635	NM_001256789.3(CACNA1F):c.4821+1G>A	CACNA1F, LOC126863257	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2764086	NM_001256789.3(CACNA1F):c.4640G>A (p.Trp1547Ter)	CACNA1F, LOC126863257 (W1493* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2693210	NM_001256789.3(CACNA1F):c.4634A>G (p.Lys1545Arg)	CACNA1F, LOC126863257 (K1545R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693209	NM_001256789.3(CACNA1F):c.4636del (p.Ile1546fs)	CACNA1F, LOC126863257 (I1492fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2196022	NM_001256789.3(CACNA1F):c.4590G>A (p.Gly1530=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131248	NM_001256789.3(CACNA1F):c.4822-2A>G	CACNA1F, LOC126863257	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2118202	NM_001256789.3(CACNA1F):c.4863G>A (p.Arg1621=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113223	NM_001256789.3(CACNA1F):c.4690+16C>G	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106288	NM_001256789.3(CACNA1F):c.4690+6C>T	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2099795	NM_001256789.3(CACNA1F):c.4690+4dup	CACNA1F, LOC126863257	Duplication (intron variant)	not provided	GUncertain significance
Select item 2071012	NM_001256789.3(CACNA1F):c.4637T>A (p.Ile1546Asn)	CACNA1F, LOC126863257 (I1492N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047529	NM_001256789.3(CACNA1F):c.4663C>A (p.Leu1555Ile)	CACNA1F, LOC126863257 (L1555I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007156	NM_001256789.3(CACNA1F):c.4657A>T (p.Lys1553Ter)	CACNA1F, LOC126863257 (K1564* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1984270	NM_001256789.3(CACNA1F):c.4540G>A (p.Ala1514Thr)	CACNA1F, LOC126863257 (A1514T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977388	NM_001256789.3(CACNA1F):c.4645C>T (p.Arg1549Trp)	CACNA1F, LOC126863257 (R1549W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969945	NM_001256789.3(CACNA1F):c.4553C>T (p.Ala1518Val)	CACNA1F, LOC126863257 (A1518V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936441	NM_001256789.3(CACNA1F):c.4682C>G (p.Pro1561Arg)	CACNA1F, LOC126863257 (P1572R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929108	NM_001256789.3(CACNA1F):c.4834A>C (p.Ser1612Arg)	CACNA1F, LOC126863257 (S1558R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912479	NM_001256789.3(CACNA1F):c.4792G>A (p.Ala1598Thr)	CACNA1F, LOC126863257 (A1544T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710114	NM_001256789.3(CACNA1F):c.4827del (p.Leu1610fs)	CACNA1F, LOC126863257 (L1556fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 1703457	NM_001256789.3(CACNA1F):c.4873A>C (p.Thr1625Pro)	CACNA1F, LOC126863257 (T1571P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670929	NM_001256789.3(CACNA1F):c.4759C>T (p.Arg1587Trp)	CACNA1F, LOC126863257 (R1533W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1659743	NM_001256789.3(CACNA1F):c.4596G>C (p.Leu1532=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618243	NM_001256789.3(CACNA1F):c.4572G>A (p.Leu1524=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609295	NM_001256789.3(CACNA1F):c.4821+10G>A	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	CACNA1F-related condition +1 more	GLikely benign
Select item 1605004	NM_001256789.3(CACNA1F):c.4494G>A (p.Val1498=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569636	NM_001256789.3(CACNA1F):c.4725A>G (p.Thr1575=)	LOC126863257, CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557285	NM_001256789.3(CACNA1F):c.4588+12G>A	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550803	NM_001256789.3(CACNA1F):c.4486-17G>A	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1538594	NM_001256789.3(CACNA1F):c.4806C>T (p.Thr1602=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524576	NM_001256789.3(CACNA1F):c.4607A>G (p.Asn1536Ser)	CACNA1F, LOC126863257 (N1536S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517472	NM_001256789.3(CACNA1F):c.4760G>A (p.Arg1587Gln)	CACNA1F, LOC126863257 (R1598Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515149	NM_001256789.3(CACNA1F):c.4802G>C (p.Ser1601Thr)	CACNA1F, LOC126863257 (S1612T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1509434	NM_001256789.3(CACNA1F):c.4862G>C (p.Arg1621Pro)	CACNA1F, LOC126863257 (R1567P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1457082	NM_001256789.3(CACNA1F):c.4486A>T (p.Arg1496Ter)	CACNA1F, LOC126863257 (R1507* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1453333	NM_001256789.3(CACNA1F):c.4800del (p.Ser1601fs)	CACNA1F, LOC126863257 (S1612fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1448240	NM_001256789.3(CACNA1F):c.4526C>T (p.Thr1509Met)	LOC126863257, CACNA1F (T1520M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410617	NM_001256789.3(CACNA1F):c.4771A>T (p.Lys1591Ter)	CACNA1F, LOC126863257 (K1537* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1406120	NM_001256789.3(CACNA1F):c.4825G>T (p.Gly1609Cys)	CACNA1F, LOC126863257 (G1620C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387032	NM_001256789.3(CACNA1F):c.4847T>C (p.Leu1616Ser)	CACNA1F, LOC126863257 (L1616S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362009	NM_001256789.3(CACNA1F):c.4649T>C (p.Met1550Thr)	CACNA1F, LOC126863257 (M1496T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357485	NM_001256789.3(CACNA1F):c.4720G>T (p.Ala1574Ser)	CACNA1F, LOC126863257 (A1520S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345912	NM_001256789.3(CACNA1F):c.4796C>T (p.Ala1599Val)	CACNA1F, LOC126863257 (A1545V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319896	NM_001256789.3(CACNA1F):c.4916T>C (p.Val1639Ala)	CACNA1F, LOC126863257 (V1585A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170914	NM_001256789.3(CACNA1F):c.4691-20C>T	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1160043	NM_001256789.3(CACNA1F):c.4539C>T (p.Asn1513=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1158451	NM_001256789.3(CACNA1F):c.4486-9T>C	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1151887	NM_001256789.3(CACNA1F):c.4690+14G>A	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1141098	NM_001256789.3(CACNA1F):c.4828C>T (p.Leu1610=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1127056	NM_001256789.3(CACNA1F):c.4588+7G>A	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1114927	NM_001256789.3(CACNA1F):c.4557G>C (p.Leu1519=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108459	NM_001256789.3(CACNA1F):c.4578C>A (p.Ile1526=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1105113	NM_001256789.3(CACNA1F):c.4749C>A (p.Arg1583=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1079111	NM_001256789.3(CACNA1F):c.4788C>T (p.Asn1596=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1077865	NM_001256789.3(CACNA1F):c.4486-11C>T	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1068032	NM_001256789.3(CACNA1F):c.4486-1G>C	CACNA1F, LOC126863257	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1062747	NM_001256789.3(CACNA1F):c.4781T>A (p.Leu1594Gln)	CACNA1F, LOC126863257 (L1540Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046690	NM_001256789.3(CACNA1F):c.4588+9G>T	CACNA1F, LOC126863257	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1044490	NM_001256789.3(CACNA1F):c.4813G>A (p.Ala1605Thr)	CACNA1F, LOC126863257 (A1551T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039591	NM_001256789.3(CACNA1F):c.4848G>C (p.Leu1616Phe)	CACNA1F, LOC126863257 (L1562F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011989	NM_001256789.3(CACNA1F):c.4832G>A (p.Arg1611Gln)	CACNA1F, LOC126863257 (R1557Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009129	NM_001256789.3(CACNA1F):c.4886A>C (p.Glu1629Ala)	CACNA1F, LOC126863257 (E1575A +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A +1 more	GUncertain significance
Select item 1004019	NM_001256789.3(CACNA1F):c.4492G>C (p.Val1498Leu)	CACNA1F, LOC126863257 (V1444L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1003625	NM_001256789.3(CACNA1F):c.4681C>G (p.Pro1561Ala)	CACNA1F, LOC126863257 (P1507A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957898	NM_001256789.3(CACNA1F):c.4619G>A (p.Arg1540Gln)	CACNA1F, LOC126863257 (R1486Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934952	NM_001256789.3(CACNA1F):c.4757G>A (p.Arg1586Gln)	CACNA1F, LOC126863257 (R1597Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866505	NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly)	CACNA1F, LOC126863257 (R1467G +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A +2 more	GConflicting classifications of pathogenicity
Select item 866413	NM_001256789.3(CACNA1F):c.4490T>C (p.Leu1497Pro)	CACNA1F, LOC126863257 (L1443P +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 788054	NM_001256789.3(CACNA1F):c.4527G>A (p.Thr1509=)	CACNA1F, LOC126863257	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493521	NM_001256789.3(CACNA1F):c.4682C>A (p.Pro1561Gln)	CACNA1F, LOC126863257 (P1572Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 426853	NM_001256789.3(CACNA1F):c.4841A>G (p.Gln1614Arg)	CACNA1F, LOC126863257 (Q1625R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 252649	NM_001256789.3(CACNA1F):c.4690G>T (p.Glu1564Ter)	LOC126863257, CACNA1F (E1575* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155281	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	RPGR, RPS6KA3 +1041 more	Copy number loss	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	PAGE2, PAGE2B +1130 more	Copy number loss	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	ACE2, ACE2-DT +1216 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130067921, LOC130067922 +1798 more	Copy number gain	See cases	GPathogenic
Select item 153753	GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	LOC125467747, LOC125467748 +999 more	Copy number loss	See cases	GPathogenic
Select item 153506	GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2	AKAP4, BMP15 +157 more	Copy number gain	See cases	GPathogenic

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