Full data view for gene SLC45A2

Information The variants shown are described using the NM_016180.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_4i c.-92_(1032+1_1033-1){0} r.0? p.0? Paternal (confirmed) - pathogenic (recessive) g.(33951786_33954468)_(g.33984781del _?)del g.(33951681_33954363)_(33984676_?)del del ex1-4 - SLC45A2_000038 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P51 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. _1_2i c.-92_(562+1_563-1){0} r.0? p.0? Maternal (inferred) - pathogenic (recessive) g.(33964122_33982340)_(33984781del _?)del g.(33964017_33982235)_(33984676_?)del del Prom-ex2 - SLC45A2_000036 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P26 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. - c.-4830G>A r.(?) p.(=) Unknown - benign g.33989518C>T g.33989413C>T AMACR(NM_014324.6):c.829G>A (p.E277K), C1QTNF3-AMACR(NR_037951.1):n.1185G>A - AMACR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4822G>A r.(?) p.(=) Unknown - benign g.33989510C>T g.33989405C>T AMACR(NM_014324.5):c.837G>A (p.T279=), AMACR(NM_014324.6):c.837G>A (p.T279=) - AMACR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4822G>A r.(?) p.(=) Unknown - benign g.33989510C>T g.33989405C>T AMACR(NM_014324.5):c.837G>A (p.T279=), AMACR(NM_014324.6):c.837G>A (p.T279=) - AMACR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4822G>A r.(?) p.(=) Unknown - benign g.33989510C>T - AMACR(NM_014324.5):c.837G>A (p.T279=), AMACR(NM_014324.6):c.837G>A (p.T279=) - AMACR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4818G>C r.(?) p.(=) Unknown - VUS g.33989506C>G - AMACR(NM_014324.5):c.841G>C (p.A281P) - AMACR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4815G>C r.(?) p.(=) Unknown - likely benign g.33989503C>G - AMACR(NM_014324.6):c.844G>C (p.E282Q) - AMACR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4717G>A r.(?) p.(=) Unknown - likely benign g.33989405C>T - AMACR(NM_014324.6):c.942G>A (p.S314=) - AMACR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3796T>C r.(?) p.(=) Unknown - likely benign g.33988484A>G - AMACR(NM_014324.6):c.*714T>C - AMACR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3757T>G r.(?) p.(=) Unknown - benign g.33988445A>C g.33988340A>C AMACR(NM_001167595.1):c.1153T>G (p.L385V), AMACR(NM_001167595.2):c.1153T>G (p.L385V) - AMACR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3757T>G r.(?) p.(=) Unknown - likely benign g.33988445A>C - AMACR(NM_001167595.1):c.1153T>G (p.L385V), AMACR(NM_001167595.2):c.1153T>G (p.L385V) - AMACR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_7_ c.-92_*32del{0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_33944721)_(33984781del _?)del g.(?_33944616)_(33984676_?)del del ex1-7 - SLC45A2_000037 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P62 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.113A>G r.(?) p.(His38Arg) Both (homozygous) ACMG pathogenic (recessive) g.33984576T>C g.33984471T>C - - SLC45A2_000094 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P75 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.125T>C r.(?) p.(Met42Thr) Unknown - likely pathogenic g.33984564A>G g.33984459A>G SLC45A2(NM_001012509.4):c.125T>C (p.M42T) - SLC45A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.130G>A r.(?) p.(Gly44Arg) Maternal (confirmed) - pathogenic (recessive) g.33984559C>T g.33984454C>T - - SLC45A2_000092 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P37 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.130G>A r.(?) p.(Gly44Arg) Parent #1 ACMG pathogenic (recessive) g.33984559C>T g.33984454C>T - - SLC45A2_000092 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P74 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.131dup r.(?) p.(Arg45LysfsTer89) Both (homozygous) - pathogenic (recessive) g.33984559dup g.33984454dup - - SLC45A2_000093 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P66 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.147C>A r.(?) p.(Tyr49Ter) Unknown - pathogenic g.33984542G>T g.33984437G>T - - SLC45A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.147C>G r.(?) p.(Tyr49*) Maternal (confirmed) - pathogenic g.33984542G>C g.33984437G>C - - SLC45A2_000014 - - - - Germline - - - - - DNA SEQ - - OCA4 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. 1 c.147C>G r.(?) p.(Tyr49Ter) Both (homozygous) - pathogenic (recessive) g.33984542G>C g.33984437G>C - - SLC45A2_000014 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P25 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.217G>T r.(?) p.(Val73Leu) Unknown ACMG VUS g.33984472C>A - - - SLC45A2_000032 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OCA IR_GH_0142 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.220T>C r.(?) p.(Trp74Arg) Unknown ACMG VUS g.33984469A>G - - - SLC45A2_000031 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OCA IR_GH_0038 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.220T>C r.(?) p.(Trp74Arg) Maternal (confirmed) - VUS g.33984469A>G g.33984364A>G - - SLC45A2_000031 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat81 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. 1 c.233C>G r.(?) p.(Pro78Arg) Paternal (confirmed) - pathogenic (recessive) g.33984456G>C g.33984351G>C - - SLC45A2_000091 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P14 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.264del r.(?) p.(Gly89AspfsTer24) Unknown - pathogenic g.33984425del g.33984320del SLC45A2(NM_001012509.4):c.264delC (p.G89Dfs*24) - SLC45A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.264del r.(?) p.(Gly89AspfsTer24) Maternal (confirmed) - pathogenic (recessive) g.33984425del g.33984320del - - SLC45A2_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P19 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.264del r.(?) p.(Gly89AspfsTer24) Parent #1 - pathogenic (recessive) g.33984425del g.33984320del - - SLC45A2_000012 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P63 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.273del r.(?) p.(Ser92AlafsTer21) Parent #1 - pathogenic (recessive) g.33984417del g.33984312del - - SLC45A2_000090 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P48 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.277G>A r.(?) p.(Asp93Asn) Both (homozygous) - pathogenic (recessive) g.33984412C>T g.33984307C>T - - SLC45A2_000089 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P4 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.304C>T r.(?) p.(Arg102Trp) Parent #1 - pathogenic (recessive) g.33984385G>A g.33984280G>A - - SLC45A2_000088 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P44 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.304C>T r.(?) p.(Arg102Trp) Parent #1 - pathogenic (recessive) g.33984385G>A g.33984280G>A - - SLC45A2_000088 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P53 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.310C>T r.(?) p.(Pro104Ser) Unknown - likely pathogenic g.33984379G>A g.33984274G>A SLC45A2(NM_001012509.4):c.310C>T (p.P104S) - SLC45A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.310C>T r.(?) p.(Pro104Ser) Unknown - VUS g.33984379G>A g.33984274G>A SLC45A2(NM_001012509.4):c.310C>T (p.P104S) - SLC45A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.334A>G r.(?) p.(Met112Val) Parent #1 - pathogenic (recessive) g.33984355T>C g.33984250T>C - - SLC45A2_000087 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P50 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.338T>G r.(?) p.(Met113Arg) Paternal (confirmed) - likely pathogenic g.33984351A>C g.33984246A>C - - SLC45A2_000013 - - - - Germline - - - - - DNA SEQ - - OCA4 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. 1 c.344_352del r.(?) p.(Val115_Met117del) Both (homozygous) - pathogenic (recessive) g.33984338_33984346del g.33984233_33984241del - - SLC45A2_000086 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P21 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.344_352del r.(?) p.(Val115_Met117del) Both (homozygous) - pathogenic (recessive) g.33984338_33984346del g.33984233_33984241del - - SLC45A2_000086 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P46 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.365A>G r.(?) p.(Asn122Ser) Maternal (confirmed) - pathogenic (recessive) g.33984324T>C g.33984219T>C - - SLC45A2_000085 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P8 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1 c.365A>G r.(?) p.(Asn122Ser) Maternal (confirmed) - pathogenic (recessive) g.33984324T>C g.33984219T>C - - SLC45A2_000085 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.368G>T r.(?) p.(Gly123Val) Unknown - VUS g.33984321C>A - NM_016180:c.G368T (G123V) - SLC45A2_000096 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0048 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
+/. 1i c.386-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.33982518C>T g.33982413C>T - - SLC45A2_000084 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P7 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 1i_2i c.(385+1_386-1)_(562+1_563-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(33964122_33982340)_(33982520_33984305)del g.(33964017_33982235)_(33982415_33984200)del del ex2 - SLC45A2_000077 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P54 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.395C>T r.(?) p.(Ala132Val) Parent #1 - pathogenic (recessive) g.33982508G>A g.33982403G>A - - SLC45A2_000083 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P54 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
?/. - c.428G>A r.(?) p.(Ser143Asn) Unknown - VUS g.33982475C>T g.33982370C>T SLC45A2(NM_001012509.4):c.428G>A (p.S143N) - AMACR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.454T>C r.(?) p.(Phe152Leu) Parent #1 - pathogenic (recessive) g.33982449A>G g.33982344A>G - - SLC45A2_000082 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P56 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.454T>C r.(?) p.(Phe152Leu) Paternal (confirmed) - pathogenic (recessive) g.33982449A>G g.33982344A>G - - SLC45A2_000082 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P64 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.469G>A r.(?) p.(Asp157Asn) Unknown ACMG VUS g.33982434C>T - - - SLC45A2_000030 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OCA IR_SH_0010 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.469G>A r.(?) p.(Asp157Asn) Unknown ACMG VUS g.33982434C>T - - - SLC45A2_000030 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OCA - - - ? - - - - - - - 1 Jinu Han
+?/. - c.469G>A r.(?) p.(Asp157Asn) Unknown ACMG VUS g.33982434C>T - - - SLC45A2_000030 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OCA IR_GH_0142 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 2 c.469G>A r.(?) p.(Asp157Asn) Paternal (confirmed) - pathogenic (recessive) g.33982434C>T g.33982329C>T - - SLC45A2_000030 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P32 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.478G>C r.(?) p.(Asp160His) Paternal (confirmed) - pathogenic (recessive) g.33982425C>G g.33982320C>G - - SLC45A2_000081 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P27 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.485C>A r.(?) p.(Pro162His) Parent #2 - pathogenic (recessive) g.33982418G>T g.33982313G>T - - SLC45A2_000080 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P44 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.533_534dup r.(?) p.(Gly179Argfs*23) Unknown ACMG pathogenic g.33982369dup - - - SLC45A2_000025 ACMG: PVS1,PM2,PP5; Lasseaux et al. 2018. Pigment Cell Melanoma Res 31: 466-474 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - rs757344228 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.533_534dup r.(?) p.(Gly179Argfs*23) Unknown - pathogenic g.33982369_33982370dup - SLC45A2(NM_001012509.4):c.533_534dupAG (p.G179Rfs*23) - SLC45A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533_534dup r.(?) p.(Gly179Argfs*23) Unknown - pathogenic g.33982369_33982370dup - SLC45A2(NM_001012509.4):c.533_534dupAG (p.G179Rfs*23) - SLC45A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.533_534insAG r.(?) p.(Leu180AlafsTer22) Maternal (confirmed) - pathogenic (recessive) g.33982369_33982370insCT g.33982264_33982265insCT - - SLC45A2_000079 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P30 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 2 c.551C>A r.(?) p.(Ala184Asp) Both (homozygous) - pathogenic (recessive) g.33982352G>T g.33982247G>T - - SLC45A2_000078 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P40 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.563-2A>G r.spl? p.? Unknown - likely pathogenic g.33964123T>C - SLC45A2(NM_001012509.4):c.563-2A>G - SLC45A2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.571G>A r.(?) p.(Gly191Ser) Both (homozygous) - pathogenic (recessive) g.33964113C>T g.33964008C>T - - SLC45A2_000076 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P52 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+?/. - c.578T>G r.(?) p.(Leu193Arg) Parent #1 - likely pathogenic g.33964106A>C g.33964001A>C - - SLC45A2_000027 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797045970 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. 3 c.593G>A r.(?) p.(Gly198Asp) Parent #2 - pathogenic (recessive) g.33964091C>T g.33963986C>T - - SLC45A2_000075 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P53 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. - c.606G>C r.(?) p.(Trp202Cys) Unknown - pathogenic g.33964078C>G g.33963973C>G SLC45A2(NM_001012509.4):c.606G>C (p.W202C) - SLC45A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.606G>C r.(?) p.(Trp202Cys) Parent #1 - pathogenic (recessive) g.33964078C>G g.33963973C>G - - SLC45A2_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P10 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.606G>C r.(?) p.(Trp202Cys) Parent #1 - pathogenic (recessive) g.33964078C>G g.33963973C>G - - SLC45A2_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P60 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.606G>C r.(?) p.(Trp202Cys) Paternal (confirmed) - pathogenic (recessive) g.33964078C>G g.33963973C>G - - SLC45A2_000021 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P37 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.662_664del r.(?) p.(Phe221del) Parent #2 - pathogenic (recessive) g.33964027_33964029del g.33963922_33963924del - - SLC45A2_000074 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P10 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. - c.670T>C r.(?) p.(Leu224=) Unknown - benign g.33964014A>G g.33963909A>G SLC45A2(NM_001012509.4):c.670T>C (p.L224=) - SLC45A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.686G>A r.(?) p.(Cys229Tyr) Unknown ACMG VUS g.33963998C>T - - - SLC45A2_000029 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OCA IR_SH_0010 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.686G>A r.(?) p.(Cys229Tyr) Unknown ACMG VUS g.33963998C>T - - - SLC45A2_000029 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OCA - - - ? - - - - - - - 1 Jinu Han
+/. 3 c.686G>A r.(?) p.(Cys229Tyr) Paternal (confirmed) - pathogenic (recessive) g.33963998C>T g.33963893C>T - - SLC45A2_000029 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P39 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.737del r.(?) p.(Ala246GlufsTer34) Paternal (confirmed) - pathogenic (recessive) g.33963947del g.33963842del - - SLC45A2_000073 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P8 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.737del r.(?) p.(Ala246GlufsTer34) Paternal (confirmed) - pathogenic (recessive) g.33963947del g.33963842del - - SLC45A2_000073 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P13 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3 c.739A>T r.(?) p.(Lys247Ter) Both (homozygous) - pathogenic (recessive) g.33963945T>A g.33963840T>A - - SLC45A2_000072 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P1 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. - c.750C>T r.(?) p.(Pro250=) Unknown - benign g.33963934G>A g.33963829G>A SLC45A2(NM_001012509.4):c.750C>T (p.P250=) - SLC45A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.803A>G r.(?) p.(Tyr268Cys) Unknown - VUS g.33963881T>C g.33963776T>C SLC45A2(NM_001012509.4):c.803A>G (p.Y268C) - SLC45A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.806G>A r.(?) p.(Gly269Asp) Paternal (confirmed) - pathogenic (recessive) g.33963878C>T g.33963773C>T - - SLC45A2_000071 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P11 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. - c.814G>A r.(?) p.(Glu272Lys) Unknown - benign g.33963870C>T g.33963765C>T SLC45A2(NM_001012509.4):c.814G>A (p.E272K) - SLC45A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.886C>T r.(?) p.(Gln296Ter) Maternal (confirmed) - pathogenic (recessive) g.33963798G>A g.33963693G>A - - SLC45A2_000070 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P45 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-/. - c.888+8T>C r.(=) p.(=) Unknown - benign g.33963788A>G g.33963683A>G SLC45A2(NM_001012509.3):c.888+8T>C, SLC45A2(NM_001012509.4):c.888+8T>C - SLC45A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.888+8T>C r.(=) p.(=) Unknown - likely benign g.33963788A>G - SLC45A2(NM_001012509.3):c.888+8T>C, SLC45A2(NM_001012509.4):c.888+8T>C - SLC45A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_4i c.(888+1_889-1)_(1032+1_1033-1)del r.? p.? Parent #1 - pathogenic (recessive) g.(33951786_33954468)_(33954613_33963798)del g.(33951681_33954363)_(33954508_33963693)del del ex4 - SLC45A2_000061 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P5 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 3i_5i c.(888+1_889-1)_(1156+1_1157-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(33947480_33951658)_(33954613_33963798)del g.(33947375_33951553)_(33954508_33963693)del del ex4-5 - SLC45A2_000055 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P74 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.953G>A r.(?) p.(Arg318His) Parent #1 - pathogenic (recessive) g.33954545C>T g.33954440C>T - - SLC45A2_000069 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P42 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.957C>A r.(?) p.(Tyr319Ter) Both (homozygous) - pathogenic (recessive) g.33954541G>T g.33954436G>T - - SLC45A2_000068 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P47 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.979G>C r.(?) p.(Gly327Arg) Maternal (inferred) - pathogenic (recessive) g.33954519C>G g.33954414C>G - - SLC45A2_000067 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P64 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.983G>A r.(?) p.(Trp328Ter) Both (homozygous) ACMG pathogenic (recessive) g.33954515C>T g.33954410C>T - - SLC45A2_000066 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P71 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.983G>A r.(?) p.(Trp328Ter) Maternal (confirmed) - pathogenic (recessive) g.33954515C>T g.33954410C>T - - SLC45A2_000066 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P24 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Both (homozygous) - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Both (homozygous) - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P3 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Both (homozygous) - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P6 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Both (homozygous) - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P16 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Both (homozygous) - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P17 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Paternal (confirmed) - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P18 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Both (homozygous) - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P20 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Both (homozygous) - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P28 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Parent #1 - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P31 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Parent #1 - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ - - albinism SLC45A2-P33 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Maternal (confirmed) - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P38 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
+/. 4 c.986del r.(?) p.(Thr329ArgfsTer69) Parent #1 - pathogenic (recessive) g.33954512del g.33954407del - - SLC45A2_000065 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism SLC45A2-P41 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
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This database is one of the ”Eye disease” gene variant databases


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