All variants in the CACNA2D4 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_172364.4 transcript reference sequence.

144 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.-231_2551+506_?){0} r.0? p.0? - VUS g.(?_1949399)_(19800505_?)del - - - CACNA2D4_000076 - PubMed: Gustafson 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. - c.? r.0? p.0? - likely pathogenic g.1948911_1984652del - chr12:g.1948911_1984652del - CACNA2D4_000095 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - LOVD
+?/. - c.52dup r.(52dup) p.(Met18AsnfsTer65) - VUS g.2027588dup g.1918422dup 52_53insA - CACNA2D4_000116 - PubMed: Szczałuba 2018 - - Germline - - - - - Johan den Dunnen
-/. - c.76G>A r.(?) p.(Ala26Thr) - benign g.2027564C>T g.1918398C>T CACNA2D4(NM_172364.5):c.76G>A (p.A26T) - CACNA2D4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.139G>A r.(?) p.(Val47Met) - benign g.2027501C>T g.1918335C>T CACNA2D4(NM_172364.5):c.139G>A (p.V47M) - CACNA2D4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.198G>A r.(?) p.(Ala66=) - likely benign g.2027442C>T g.1918276C>T CACNA2D4(NM_172364.4):c.198G>A (p.A66=) - CACNA2D4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.227C>T r.(?) p.(Thr76Ile) - VUS g.2027413G>A g.1918247G>A CACNA2D4(NM_172364.4):c.227C>T (p.T76I) - CACNA2D4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.227+11C>T r.(=) p.(=) - benign g.2027402G>A g.1918236G>A CACNA2D4(NM_172364.5):c.227+11C>T - CACNA2D4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.258G>A r.(?) p.(Gly86=) - likely benign g.2024071C>T - CACNA2D4(NM_172364.4):c.258G>A (p.G86=) - CACNA2D4_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.265T>A r.(?) p.(Tyr89Asn) - VUS g.2024064A>T - CACNA2D4(NM_172364.4):c.265T>A (p.Y89N) - CACNA2D4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.306G>A r.(?) p.(Gln102=) - likely benign g.2024023C>T g.1914857C>T CACNA2D4(NM_172364.5):c.306G>A (p.Q102=) - CACNA2D4_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.318G>A r.(?) p.(Lys106=) - likely benign g.2022297C>T - CACNA2D4(NM_172364.4):c.318G>A (p.K106=) - CACNA2D4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 c.404G>C r.(?) p.(Arg135Pro) ACMG VUS g.2022211C>G g.1913045C>G - - CACNA2D4_000113 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
+/. - c.424C>T r.(?) p.(Gln142*) - pathogenic g.2022191G>A - CACNA2D4(NM_172364.4):c.424C>T (p.Q142*) - CACNA2D4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.424C>T r.(?) p.(Gln142Ter) ACMG likely pathogenic g.2022191G>A g.1913025G>A - - CACNA2D4_000104 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Johan den Dunnen
+?/. - c.466G>T r.(?) p.(Glu156*) - likely pathogenic g.2019092C>A - - - CACNA2D4_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.486+20C>G r.(=) p.(=) - likely benign g.2019052G>C g.1909886G>C CACNA2D4(NM_172364.5):c.486+20C>G - CACNA2D4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.649+5C>T r.spl? p.? - VUS g.2017036G>A - CACNA2D4(NM_172364.4):c.649+5C>T - CACNA2D4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.650-2A>G r.spl? p.? - VUS g.2016739T>C - CACNA2D4(NM_172364.5):c.650-2A>G - CACNA2D4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.695C>A r.(?) p.(Ala232Asp) - likely benign g.2016692G>T g.1907526G>T CACNA2D4(NM_172364.4):c.695C>A (p.A232D) - CACNA2D4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.748G>C r.(?) p.(Gly250Arg) - likely benign g.2016639C>G g.1907473C>G CACNA2D4(NM_172364.5):c.748G>C (p.G250R) - CACNA2D4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.780A>G r.(?) p.(Pro260=) - likely benign g.2016607T>C - CACNA2D4(NM_172364.4):c.780A>G (p.P260=) - CACNA2D4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 6i c.782-19C>T r.(?) p.(?) - benign g.1996254G>A g.1887088G>A - - CACNA2D4_000002 predicted benign PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-?/. - c.837C>T r.(?) p.(Arg279=) - likely benign g.1996180G>A - CACNA2D4(NM_172364.5):c.837C>T (p.R279=) - CACNA2D4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.888G>A r.(?) p.(Val296=) - likely benign g.1995494C>T g.1886328C>T CACNA2D4(NM_172364.4):c.888G>A (p.V296=), CACNA2D4(NM_172364.5):c.888G>A (p.V296=) - CACNA2D4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.888G>A r.(?) p.(Val296=) - likely benign g.1995494C>T - CACNA2D4(NM_172364.4):c.888G>A (p.V296=), CACNA2D4(NM_172364.5):c.888G>A (p.V296=) - CACNA2D4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.912G>A r.(?) p.(Gly304=) - benign g.1995470C>T g.1886304C>T CACNA2D4(NM_172364.5):c.912G>A (p.G304=) - CACNA2D4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.937A>G r.(?) p.(Thr313Ala) - VUS g.1995445T>C - CACNA2D4(NM_172364.4):c.937A>G (p.T313A) - CACNA2D4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.963G>A r.(?) p.(Leu321=) - benign g.1995419C>T g.1886253C>T CACNA2D4(NM_172364.5):c.963G>A (p.L321=) - CACNA2D4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.979A>G r.(?) p.(Ile327Val) - benign g.1995403T>C g.1886237T>C CACNA2D4(NM_172364.5):c.979A>G (p.I327V) - CACNA2D4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1006G>A r.(?) p.(Val336Ile) - VUS g.1995193C>T g.1886027C>T CACNA2D4(NM_172364.5):c.1006G>A (p.V336I) - CACNA2D4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1050G>A r.(?) p.(Ala350=) - likely benign g.1995149C>T g.1885983C>T CACNA2D4(NM_172364.4):c.1050G>A (p.A350=) - CACNA2D4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1213G>A r.(?) p.(Asp405Asn) - VUS g.1993993C>T g.1884827C>T - - CACNA2D4_000081 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
-?/. - c.1218C>T r.(?) p.(Gly406=) - likely benign g.1993988G>A - CACNA2D4(NM_172364.4):c.1218C>T (p.G406=) - CACNA2D4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1239G>T r.(?) p.(Pro413=) - benign g.1993967C>A g.1884801C>A CACNA2D4(NM_172364.5):c.1239G>T (p.P413=) - CACNA2D4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1305A>C r.(?) p.(Glu435Asp) - likely benign g.1993455T>G - CACNA2D4(NM_172364.4):c.1305A>C (p.E435D) - CACNA2D4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1356C>G r.(?) p.(Tyr452Ter) - VUS g.1992162G>C g.1882996G>C CACNA2D4(NM_172364.4):c.1356C>G (p.Y452*) - CACNA2D4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1359C>T r.(?) p.(Tyr453=) - benign g.1992159G>A g.1882993G>A CACNA2D4(NM_172364.4):c.1359C>T (p.Y453=) - CACNA2D4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1423C>T r.(?) p.(Arg475Cys) - VUS g.1992095G>A g.1882929G>A CACNA2D4(NM_172364.4):c.1423C>T (p.R475C) - CACNA2D4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1502C>G r.(?) p.(Ala501Gly) - VUS g.1989031G>C g.1879865G>C CACNA2D4(NM_172364.4):c.1502C>G (p.A501G) - CACNA2D4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1508G>A r.(?) p.(Ser503Asn) - benign g.1989025C>T g.1879859C>T CACNA2D4(NM_172364.5):c.1508G>A (p.S503N) - CACNA2D4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1509C>T r.(?) p.(Ser503=) - likely benign g.1989024G>A g.1879858G>A CACNA2D4(NM_172364.4):c.1509C>T (p.S503=), CACNA2D4(NM_172364.5):c.1509C>T (p.S503=) - CACNA2D4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1509C>T r.(?) p.(Ser503=) - likely benign g.1989024G>A - CACNA2D4(NM_172364.4):c.1509C>T (p.S503=), CACNA2D4(NM_172364.5):c.1509C>T (p.S503=) - CACNA2D4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1547G>A r.(?) p.(Ser516Asn) - VUS g.1988986C>T g.1879820C>T CACNA2D4(NM_172364.5):c.1547G>A (p.S516N) - CACNA2D4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1558G>A r.(?) p.(Glu520Lys) - VUS g.1988975C>T - CACNA2D4(NM_172364.4):c.1558G>A (p.E520K) - CACNA2D4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1564C>T r.(?) p.(Arg522*) - pathogenic g.1988202G>A - CACNA2D4(NM_172364.4):c.1564C>T (p.R522*), CACNA2D4(NM_172364.5):c.1564C>T (p.R522*) - CACNA2D4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1564C>T r.(?) p.(Arg522*) - VUS g.1988202G>A - CACNA2D4(NM_172364.4):c.1564C>T (p.R522*), CACNA2D4(NM_172364.5):c.1564C>T (p.R522*) - CACNA2D4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1589_1593del r.(?) p.(Val530Glyfs*54) - likely pathogenic g.1988177_1988181del g.1879011_1879015del CACNA2D4, variant 1: c.1589_1593del/p.V530Gfs*54, variant 2: c.1589_1593del/p.V530Gfs*54 - CACNA2D4_000096 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
?/. 16 c.1646T>C r.(?) p.(Leu549Pro) - VUS g.1987554A>G - c.1646T>C - CACNA2D4_000098 - PubMed: BorrĂ s 2013 - - Germline no Novel - - - LOVD
-?/. - c.1683T>C r.(?) p.(Asn561=) - likely benign g.1987517A>G g.1878351A>G CACNA2D4(NM_172364.4):c.1683T>C (p.N561=) - CACNA2D4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1720-74_2551+1189del r.spl p.(Tyr574Profs*6) ACMG pathogenic g.1948716_1984577del - - - CACNA2D4_000072 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
+/. - c.1720-74_2551+1189del r.spl p.(Tyr574Profs*6) ACMG pathogenic g.1948716_1984577del - - - CACNA2D4_000072 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
+?/. _16_26_ c.1720-74_2551+1189delinsTG r.(?) p.? - likely pathogenic (recessive) g.1948716_1984577delinsCA g.1839550_1875411delinsCA CACNA2D4: c.[1719+2904_2551-27827delinsTG];[1719+2904_2551-27827delinsTG] - CACNA2D4_000105 homozygous PubMed: Ba-Abbad 2016 - - Germline yes - - - - LOVD
+?/. _16_26_ c.1720-74_2551+1189delinsTG r.(?) p.? - likely pathogenic (recessive) g.1948716_1984577delinsCA g.1839550_1875411delinsCA CACNA2D4: Chr12: 1948911-1984652, a deletion of 35,741 bp. - CACNA2D4_000105 homozygous; 19 carriers detected in the Ashkenazi Jews group: (1.8% population) PubMed: Chiang 2018 - - Unknown ? - - - - LOVD
+/. 17i_26i c.(1719+1_1720-1)_(2551+1_2552-1)del r.? p.(?) ACMG pathogenic g.(1920890_1949904)_ (1987480_1984504)del - - - CACNA2D4_000112 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
+/. 17i_26i c.(1719+1_1720-1)_(2551+1_2552-1)del r.? p.(?) ACMG pathogenic g.(1920890_1949904)_ (1987480_1984504)del - - - CACNA2D4_000112 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
+/. - c.(1719+1_1720-1)_(2551+1_2552-1)del r.? p.? ACMG pathogenic g.(1920890_1949904)_ (1987480_1984504)del - - - CACNA2D4_000112 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Johan den Dunnen
-?/. - c.1795C>G r.(?) p.(Gln599Glu) - likely benign g.1984428G>C g.1875262G>C CACNA2D4(NM_172364.4):c.1795C>G (p.Q599E) - CACNA2D4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1801G>C r.(?) p.(Glu601Gln) - VUS g.1984422C>G g.1875256C>G CACNA2D4(NM_172364.4):c.1801G>C (p.E601Q) - CACNA2D4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1882C>T r.(?) p.(Arg628Ter) - pathogenic g.1969369G>A g.1860203G>A CACNA2D4(NM_172364.4):c.1882C>T (p.R628*) - CACNA2D4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1882C>T r.(?) p.(Arg628*) - pathogenic (recessive) g.1969369G>A - 12:1969369G>A ENST00000382722.5:c.1882C>T (Arg628Ter) - CACNA2D4_000054 - PubMed: Carss 2017 - - Germline - - - - - LOVD
+/. 19 c.1882C>T r.1882c>u p.(Arg628*) - pathogenic (recessive) g.1969369G>A g.1860203G>A - - CACNA2D4_000054 - PubMed: Fadaie 2021 - - Germline - - - - - Zeinab Fadaie
?/. - c.1882C>T r.(?) p.(Arg628*) - VUS g.1969369G>A g.1860203G>A CACNA2D4 c.1882C>T, p.Arg628Ter - CACNA2D4_000054 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - LOVD
+?/. - c.1882C>T r.(?) p.(Arg628*) - likely pathogenic g.1969369G>A g.1860203G>A CACNA2D4 c.1882C>T, p.Arg628Ter - CACNA2D4_000054 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - LOVD
+?/. 19 c.1882C>T r.(?) p.(Arg628*) - likely pathogenic (recessive) g.1969369G>A g.1860203G>A CACNA2D4: c.[1882C>T];[1882C>T] (p.[Arg628*]; [Arg628*]) - CACNA2D4_000054 homozygous PubMed: Ba-Abbad 2016 - - Germline yes - - - - LOVD
?/. 19 c.1882C>T r.(?) p.(Arg628Ter) ACMG VUS g.1969369G>A g.1860203G>A - - CACNA2D4_000054 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - Rebekkah Hitti-Malin
-/. - c.1940+15C>T r.(=) p.(=) - benign g.1969296G>A - CACNA2D4(NM_172364.5):c.1940+15C>T - CACNA2D4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1940+18T>C r.(=) p.(=) - benign g.1969293A>G g.1860127A>G CACNA2D4(NM_172364.5):c.1940+18T>C - CACNA2D4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 20 c.2008G>A r.(?) p.(Gly670Ser) - VUS g.1967743C>T g.1858577C>T G2008A - CACNA2D4_000083 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD
-/. - c.2009-3C>T r.spl? p.? - benign g.1965398G>A g.1856232G>A CACNA2D4(NM_172364.5):c.2009-3C>T - CACNA2D4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 20i c.2009-3C>T r.= p.(=) - likely benign g.1965398G>A g.1856232G>A - - CACNA2D4_000024 - PubMed: Fadaie 2021 - - Germline - - - - - Zeinab Fadaie
?/. - c.2030C>G r.(?) p.(Pro677Arg) ACMG VUS g.1965374G>C g.1856208G>C CACNA2D4:NM_172364 c.C2030G, p.P677R - CACNA2D4_000094 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
?/. - c.2065A>G r.(?) p.(Ile689Val) - VUS g.1965265T>C g.1856099T>C - - CACNA2D4_000042 - PubMed: Coppieters 2016 - rs76224631 Germline - - - - - Johan den Dunnen
+?/. - c.2087A>G r.(?) p.(His696Arg) - VUS g.1965243T>C g.1856077T>C - - CACNA2D4_000041 does not associate with phenotype PubMed: Coppieters 2016 - rs115228472 Germline - - - - - Johan den Dunnen
-/. - c.2095C>T r.(?) p.(Leu699Phe) - benign g.1965235G>A g.1856069G>A CACNA2D4(NM_172364.4):c.2095C>T (p.L699F), CACNA2D4(NM_172364.5):c.2095C>T (p.L699F) - CACNA2D4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2095C>T r.(?) p.(Leu699Phe) - likely benign g.1965235G>A g.1856069G>A CACNA2D4(NM_172364.4):c.2095C>T (p.L699F), CACNA2D4(NM_172364.5):c.2095C>T (p.L699F) - CACNA2D4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2095C>T r.(?) p.(Leu699Phe) - VUS g.1965235G>A g.1856069G>A - - CACNA2D4_000023 conflicting interpretations of pathogenicity; 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs151121191 Germline - 18/2795 individuals - - - Mohammed Faruq
-/. - c.2109G>C r.(?) p.(Glu703Asp) - benign g.1965221C>G g.1856055C>G CACNA2D4(NM_172364.5):c.2109G>C (p.E703D) - CACNA2D4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2119C>T r.(?) p.(Arg707Cys) - VUS g.1965211G>A - CACNA2D4(NM_172364.5):c.2119C>T (p.R707C) - CACNA2D4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.2120G>A r.(?) p.(Arg707His) - benign g.1965210C>T g.1856044C>T CACNA2D4(NM_172364.5):c.2120G>A (p.R707H) - CACNA2D4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2120G>A r.(?) p.(Arg707His) - likely benign g.1965210C>T g.1856044C>T - - CACNA2D4_000022 42 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76064926 Germline - 42/2795 individuals - - - Mohammed Faruq
-?/. - c.2120G>A r.(?) p.(Arg707His) - likely benign g.1965210C>T g.1856044C>T - - CACNA2D4_000022 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.017 - - - Global Variome, with Curator vacancy
+?/. - c.2120G>A r.(?) p.(Arg707His) - likely pathogenic g.1965210C>T g.1856044C>T - - CACNA2D4_000022 - PubMed: Huang 2015 - - Germline yes - - - - LOVD
+?/. - c.2120G>A r.(?) p.(Arg707His) ACMG likely pathogenic g.1965210C>T g.1856044C>T CACNA2D4 c.2120G>A, p.(Arg707His) - CACNA2D4_000022 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
?/. - c.2158G>A r.(?) p.(Glu720Lys) - VUS g.1963205C>T g.1854039C>T CACNA2D4(NM_172364.4):c.2158G>A (p.E720K) - CACNA2D4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2189C>T r.(?) p.(Ala730Val) - benign g.1963174G>A - CACNA2D4(NM_172364.5):c.2189C>T (p.A730V) - CACNA2D4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2190G>A r.(?) p.(Ala730=) - likely benign g.1963173C>T g.1854007C>T CACNA2D4(NM_172364.4):c.2190G>A (p.A730=), CACNA2D4(NM_172364.5):c.2190G>A (p.A730=) - CACNA2D4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2190G>A r.(?) p.(Ala730=) - likely benign g.1963173C>T g.1854007C>T CACNA2D4(NM_172364.4):c.2190G>A (p.A730=), CACNA2D4(NM_172364.5):c.2190G>A (p.A730=) - CACNA2D4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2239A>G r.(?) p.(Met747Val) - likely benign g.1963124T>C - CACNA2D4(NM_172364.5):c.2239A>G (p.M747V) - CACNA2D4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 25 c.2406C>A r.(?) p.(Tyr802*) - VUS g.1953632G>T - - - CACNA2D4_000085 - PubMed: Zeitz-2009 - - Germline - - - - - LOVD
?/. - c.2406C>A r.(?) p.(Tyr802*) - VUS g.1953632G>T g.1844466G>T CACNA2D4 c.2406C>A, p.Tyr802Ter - CACNA2D4_000085 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - LOVD
+/. - c.2406C>A r.(?) p.(Tyr802*) - pathogenic g.1953632G>T - CACNA2D4(NM_172364.4):c.2406C>A (p.Y802*) - CACNA2D4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 25 c.2406C>A r.(?) p.(Tyr802*) - likely pathogenic (recessive) g.1953632G>T g.1844466G>T CACNA2D4 c.2406C->A, p.Y802X - CACNA2D4_000085 homozygous PubMed: Wycisk 2006 - - Germline yes - - - - LOVD
+?/. 25 c.2406C>A r.(?) p.(Tyr802*) - likely pathogenic (recessive) g.1953632G>T g.1844466G>T CACNA2D4 c.2406C->A, p.Y802X - CACNA2D4_000085 homozygous PubMed: Wycisk 2006 - - Germline yes - - - - LOVD
?/. 25 c.2452C>T r.(?) p.(Arg818Cys) - VUS g.1953586G>A - - - CACNA2D4_000084 - PubMed: Zeitz-2009 - - Germline - - - - - LOVD
-?/. - c.2470+12C>T r.(=) p.(=) - likely benign g.1953556G>A - CACNA2D4(NM_172364.5):c.2470+12C>T - CACNA2D4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2515G>T r.(?) p.(Ala839Ser) - VUS g.1949941C>A g.1840775C>A CACNA2D4(NM_172364.4):c.2515G>T (p.A839S) - CACNA2D4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2516C>T r.(?) p.(Ala839Val) - VUS g.1949940G>A g.1840774G>A CACNA2D4(NM_172364.4):c.2516C>T (p.A839V), CACNA2D4(NM_172364.5):c.2516C>T (p.A839V) - CACNA2D4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2516C>T r.(?) p.(Ala839Val) - VUS g.1949940G>A g.1840774G>A CACNA2D4(NM_172364.4):c.2516C>T (p.A839V), CACNA2D4(NM_172364.5):c.2516C>T (p.A839V) - CACNA2D4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 26i c.2551+8C>T r.(=) p.(=) ACMG VUS g.1949897G>A - - - CACNA2D4_000082 - PubMed: Bahena 2021 - - Germline yes - - - - Barbara Vona
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