All variants in the SLC20A2 gene

Information The variants shown are described using the NM_006749.4 transcript reference sequence.

105 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.-305G>A r.(?) p.(=) - benign g.42397004C>T g.42541861C>T - - SLC20A2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1i_2i c.(-265+1_-264-1)_(289+1_290-1)del r.(-264_289del) p.0? - pathogenic g.(42323436_42329619)_(42330173_42358548)del - - - SLC20A2_000009 - - - - Germline yes - - - - Gael Nicolas
+?/. 1i_2i c.(-265+1_-264-1)_(289+1_290-1)del r.0? p.0? - pathogenic (dominant) g.(42323436_42329619)_(42330173_42358548)del - - - SLC20A2_000009 - - - - Germline yes - - - - Wanjin Chen
+/. _1_11_ c.0 r.0? p.0? - pathogenic g.(?_41346129)_(43050788_?)del - 41346129_43050788del - SLC20A2_000053 - - - - De novo yes - - - - Wanjin Chen
-?/. - c.43A>G r.(?) p.(Ile15Val) - likely benign g.42329866T>C - SLC20A2(NM_006749.4):c.43A>G (p.I15V) - C8orf40_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.58T>C r.(?) p.(Leu20=) - likely benign g.42329851A>G g.42472333A>G SLC20A2(NM_001257180.2):c.58T>C (p.L20=), SLC20A2(NM_006749.4):c.58T>C (p.L20=) - SLC20A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.58T>C r.(?) p.(Leu20=) - likely benign g.42329851A>G g.42472333A>G SLC20A2(NM_001257180.2):c.58T>C (p.L20=), SLC20A2(NM_006749.4):c.58T>C (p.L20=) - SLC20A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.71T>C r.(?) p.(Val24Ala) - pathogenic (dominant) g.42329838A>G g.42472320A>G - - SLC20A2_000039 - - - - Germline yes - - - - Wanjin Chen
+/. - c.118_130del r.(?) p.(Gly40*) - pathogenic g.42329781_42329793del - SLC20A2(NM_006749.5):c.118_130delGGTGTGGTGACCT (p.G40*) - C8orf40_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.118_130del r.(?) p.(Gly40*) - pathogenic g.42329781_42329793del - SLC20A2(NM_006749.5):c.118_130delGGTGTGGTGACCT (p.G40*) - C8orf40_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.118_130del r.(?) p.(Gly40*) - pathogenic g.42329781_42329793del - SLC20A2(NM_006749.5):c.118_130delGGTGTGGTGACCT (p.G40*) - C8orf40_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 2 c.124_126del r.(?) p.(=) - likely pathogenic g.42329786_42329788del g.42472268_42472270del - - SLC20A2_000007 not found in 576 control chromosomes PubMed: Wang 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.138G>A r.(?) p.(Gln46=) - likely benign g.42329771C>T g.42472253C>T SLC20A2(NM_001257180.2):c.138G>A (p.Q46=) - SLC20A2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.138G>A r.(?) p.(Gln46=) - likely benign g.42329771C>T g.42472253C>T SLC20A2(NM_001257180.2):c.138G>A (p.Q46=) - SLC20A2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 2 c.146_150del r.(?) p.(Ile49Serfs*5) - pathogenic (dominant) g.42329760_42329764del g.42472242_42472246del 146_150delTTTTA - SLC20A2_000040 - - - - Germline yes - - - - Wanjin Chen
-?/. - c.177C>T r.(?) p.(Ser59=) - likely benign g.42329732G>A g.42472214G>A SLC20A2(NM_006749.4):c.177C>T (p.S59=) - C8orf40_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 c.207del r.(?) p.(Ile70Phefs*8) - pathogenic (dominant) g.42329703del g.42472185del 207delC - SLC20A2_000041 - - - - Germline yes - - - - Wanjin Chen
+/. - c.211C>T r.(?) p.(Arg71Cys) ACMG pathogenic (recessive) g.42329698G>A g.42472180G>A - - SLC20A2_000056 - - - rs373139157 Germline - MAF<0.0001% - - - A. Arteche-López
-?/. - c.290-13C>A r.(=) p.(=) - likely benign g.42323448G>T g.42465930G>T SLC20A2(NM_001257180.2):c.290-13C>A - SLC20A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.295G>A r.(?) p.(Ala99Thr) - VUS g.42323430C>T - SLC20A2(NM_001257180.2):c.295G>A (p.A99T) - C8orf40_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 3 c.332C>T r.(?) p.(Pro111Leu) - pathogenic (dominant) g.42323393G>A g.42465875G>A - - SLC20A2_000042 - - - - Germline yes - - - - Wanjin Chen
?/. - c.344C>T r.(?) p.(Thr115Met) - VUS g.42323381G>A g.42465863G>A SLC20A2(NM_001257180.2):c.344C>T (p.T115M) - C8orf40_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.344C>T r.(?) p.(Thr115Met) - likely pathogenic g.42323381G>A g.42465863G>A SLC20A2(NM_001257180.2):c.344C>T (p.T115M) - C8orf40_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.344C>T r.(?) p.(Thr115Met) - pathogenic g.42323381G>A - SLC20A2(NM_001257180.2):c.344C>T (p.T115M) - C8orf40_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.345G>A r.(?) p.(Thr115=) - benign g.42323380C>T g.42465862C>T SLC20A2(NM_001257180.2):c.345G>A (p.T115=), SLC20A2(NM_006749.4):c.345G>A (p.T115=) - SLC20A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.345G>A r.(?) p.(Thr115=) - likely benign g.42323380C>T g.42465862C>T SLC20A2(NM_001257180.2):c.345G>A (p.T115=), SLC20A2(NM_006749.4):c.345G>A (p.T115=) - SLC20A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.347A>G r.(?) p.(His116Arg) - VUS g.42323378T>C g.42465860T>C - - SLC20A2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 3 c.427A>G r.[427_430del,=] p.[Ile143LeufsTer27,=] - likely pathogenic g.42323298T>C g.42465780T>C - - SLC20A2_000058 effect on RNA exclusion of exon - - - Germline/De novo (untested) - - - - - Tjakko van Ham
-?/. - c.431-11del r.(=) p.(=) - likely benign g.42320628del g.42463110del SLC20A2(NM_001257180.2):c.431-11delT - SLC20A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 3i_4i c.(430+1_431-1)_(516+1_517-1)del r.(431_516del) p.(Val144Glyfs*85) - pathogenic g.(42317511_42320522)_(42320609_42323294)del - - - SLC20A2_000010 - - - - Unknown ? - - - - Gael Nicolas
+/. 3i_5i c.(430+1_431-1)_(613+1_614-1)del r.(431_613del) p.(Ala145_Val205del) - pathogenic g.(42302281_42317413)_(42320609_42323294)del - - - SLC20A2_000008 - - - - Unknown - - - - - Gael Nicolas
?/. - c.533A>G r.(?) p.(Asn178Ser) - VUS g.42317494T>C g.42459976T>C SLC20A2(NM_001257180.2):c.533A>G (p.N178S) - SLC20A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.541C>T r.(?) p.(Arg181Trp) - VUS g.42317486G>A g.42459968G>A SLC20A2(NM_001257180.2):c.541C>T (p.R181W) - SLC20A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.542G>A r.(?) p.(Arg181Gln) - VUS g.42317485C>T g.42459967C>T SLC20A2(NM_001257180.2):c.542G>A (p.R181Q), SLC20A2(NM_006749.4):c.542G>A (p.R181Q) - SLC20A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.542G>A r.(?) p.(Arg181Gln) - VUS g.42317485C>T - SLC20A2(NM_001257180.2):c.542G>A (p.R181Q), SLC20A2(NM_006749.4):c.542G>A (p.R181Q) - SLC20A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.568A>G r.(?) p.(Thr190Ala) - VUS g.42317459T>C - - - C8orf40_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.581A>G r.(?) p.(Asn194Ser) - VUS g.42317446T>C g.42459928T>C - - C8orf40_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 5i_6i c.(613+1_614-1)_(730+1_731-1)del r.? p.? - pathogenic (dominant) g.(42297172_42302163)_(42302281_42317413)del - - - SLC20A2_000055 - - - - Germline yes - - - - Wanjin Chen
+/. 6 c.687dup r.(?) p.(Val230Cysfs*28) ACMG pathogenic g.42302213dup g.42444695dup - - SLC20A2_000057 - - ClinVar-2098481 - Germline yes - - - - Marketa Wayhelova
+?/. 6i c.730+1G>A r.spl p.? - likely pathogenic g.42302163C>T g.42444645C>T - - SLC20A2_000043 - - - - Germline yes - - - - Wanjin Chen
?/. - c.761G>A r.(?) p.(Arg254Gln) - VUS g.42297141C>T g.42439623C>T SLC20A2(NM_001257180.2):c.761G>A (p.R254Q) - SLC20A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.777C>G r.(?) p.(Ser259Arg) - likely benign g.42297125G>C g.42439607G>C SLC20A2(NM_001257180.2):c.777C>G (p.S259R) - SLC20A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 7 c.799G>C r.(?) p.(Glu267Gln) - likely benign g.42297103C>G g.42439585C>G - - SLC20A2_000054 - - - - Germline yes - - - - Wanjin Chen
-?/. - c.849C>T r.(?) p.(Ser283=) - likely benign g.42297053G>A g.42439535G>A SLC20A2(NM_001257180.2):c.849C>T (p.S283=) - SLC20A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.894G>A r.(?) p.(Ser298=) - likely benign g.42297008C>T g.42439490C>T SLC20A2(NM_001257180.2):c.894G>A (p.S298=) - C8orf40_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.902C>T r.(?) p.(Thr301Ile) - VUS g.42297000G>A - SLC20A2(NM_001257180.1):c.902C>T (p.(Thr301Ile)) - C8orf40_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.909G>A r.(?) p.(Ala303=) - likely benign g.42296993C>T g.42439475C>T SLC20A2(NM_001257180.2):c.909G>A (p.A303=), SLC20A2(NM_006749.4):c.909G>A (p.A303=) - SLC20A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.909G>A r.(?) p.(Ala303=) - benign g.42296993C>T g.42439475C>T SLC20A2(NM_001257180.2):c.909G>A (p.A303=), SLC20A2(NM_006749.4):c.909G>A (p.A303=) - SLC20A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.910G>A r.(?) p.(Gly304Ser) - benign g.42296992C>T g.42439474C>T SLC20A2(NM_001257180.1):c.910G>A (p.(Gly304Ser)), SLC20A2(NM_001257180.2):c.910G>A (p.G304S) - SLC20A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.910G>A r.(?) p.(Gly304Ser) - likely benign g.42296992C>T g.42439474C>T SLC20A2(NM_001257180.1):c.910G>A (p.(Gly304Ser)), SLC20A2(NM_001257180.2):c.910G>A (p.G304S) - SLC20A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.923G>A r.(?) p.(Arg308Gln) - likely benign g.42296979C>T g.42439461C>T SLC20A2(NM_001257180.2):c.923G>A (p.R308Q) - C8orf40_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.933C>T r.(?) p.(Tyr311=) - likely benign g.42296969G>A g.42439451G>A SLC20A2(NM_001257180.2):c.933C>T (p.Y311=) - SLC20A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.933C>T r.(?) p.(Tyr311=) - likely benign g.42296969G>A g.42439451G>A SLC20A2(NM_001257180.2):c.933C>T (p.Y311=) - SLC20A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.933C>T r.(?) p.(Tyr311=) - likely benign g.42296969G>A g.42439451G>A SLC20A2(NM_001257180.2):c.933C>T (p.Y311=) - SLC20A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.989C>T r.(?) p.(Thr330Ile) - likely benign g.42295041G>A - SLC20A2(NM_001257180.1):c.989C>T (p.(Thr330Ile)) - C8orf40_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.998T>G r.(?) p.(Phe333Cys) - VUS g.42295032A>C g.42437514A>C SLC20A2(NM_001257180.2):c.998T>G (p.F333C) - C8orf40_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1008C>T r.(?) p.(His336=) - benign g.42295022G>A g.42437504G>A SLC20A2(NM_001257180.2):c.1008C>T (p.H336=), SLC20A2(NM_006749.4):c.1008C>T (p.H336=) - SLC20A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1008C>T r.(?) p.(His336=) - benign g.42295022G>A g.42437504G>A SLC20A2(NM_001257180.2):c.1008C>T (p.H336=), SLC20A2(NM_006749.4):c.1008C>T (p.H336=) - SLC20A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1011C>A r.(?) p.(Thr337=) - likely benign g.42295019G>T g.42437501G>T SLC20A2(NM_001257180.2):c.1011C>A (p.T337=), SLC20A2(NM_006749.4):c.1011C>A (p.T337=) - SLC20A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1011C>A r.(?) p.(Thr337=) - benign g.42295019G>T g.42437501G>T SLC20A2(NM_001257180.2):c.1011C>A (p.T337=), SLC20A2(NM_006749.4):c.1011C>A (p.T337=) - SLC20A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1016G>A r.(?) p.(Ser339Asn) - likely benign g.42295014C>T g.42437496C>T SLC20A2(NM_001257180.2):c.1016G>A (p.S339N) - C8orf40_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1090G>A r.(?) p.(Asp364Asn) - VUS g.42294940C>T g.42437422C>T SLC20A2(NM_006749.4):c.1090G>A (p.D364N) - SLC20A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1134G>T r.(?) p.(Arg378=) - likely benign g.42294896C>A g.42437378C>A SLC20A2(NM_001257180.2):c.1134G>T (p.R378=) - C8orf40_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1141C>T r.(?) p.(Arg381Cys) - VUS g.42294889G>A g.42437371G>A - - SLC20A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 8 c.1157dup r.(?) p.(Tyr386*) - likely pathogenic g.42294873dup g.42437355dup c.1157dup - SLC20A2_000044 - - - - Germline yes - - - - Wanjin Chen
+/. - c.1158C>A r.(?) p.(Tyr386Ter) - pathogenic g.42294872G>T g.42437354G>T SLC20A2(NM_001257180.2):c.1158C>A (p.Y386*), SLC20A2(NM_006749.5):c.1158C>A (p.Y386*) - C8orf40_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1158C>A r.(?) p.(Tyr386Ter) - pathogenic g.42294872G>T - SLC20A2(NM_001257180.2):c.1158C>A (p.Y386*), SLC20A2(NM_006749.5):c.1158C>A (p.Y386*) - C8orf40_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 8 c.1197_1198insA r.(?) p.(Ala400Serfs*15) - likely pathogenic g.42294832_42294833insT g.42437314_42437315insT - - SLC20A2_000045 - - - - Germline yes - - - - Wanjin Chen
-?/. - c.1254C>T r.(?) p.(Gly418=) - likely benign g.42294776G>A g.42437258G>A SLC20A2(NM_001257180.2):c.1254C>T (p.G418=), SLC20A2(NM_006749.4):c.1254C>T (p.G418=) - SLC20A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1254C>T r.(?) p.(Gly418=) - benign g.42294776G>A g.42437258G>A SLC20A2(NM_001257180.2):c.1254C>T (p.G418=), SLC20A2(NM_006749.4):c.1254C>T (p.G418=) - SLC20A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 8 c.1330del r.(?) p.(Glu444Argfs*11) - likely pathogenic g.42294701del g.42437183del 1330delG - SLC20A2_000046 - - - - Germline yes - - - - Wanjin Chen
-?/. - c.1369G>A r.(?) p.(Ala457Thr) - likely benign g.42294661C>T g.42437143C>T SLC20A2(NM_001257180.2):c.1369G>A (p.A457T) - SLC20A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1377G>T r.(?) p.(Glu459Asp) - likely benign g.42294653C>A g.42437135C>A SLC20A2(NM_001257180.2):c.1377G>T (p.E459D) - C8orf40_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 8 c.1409del r.(?) p.(Pro470Leufs*38) - likely pathogenic g.42294623del g.42437105del Pro470Leufs*37 - SLC20A2_000004 not found in 202 control chromosomes PubMed: Wang 2012 - - Germline - - - - - Johan den Dunnen
-/. - c.1438G>A r.(?) p.(Ala480Thr) - benign g.42294592C>T g.42437074C>T SLC20A2(NM_001257180.2):c.1438G>A (p.A480T), SLC20A2(NM_006749.4):c.1438G>A (p.A480T) - SLC20A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1438G>A r.(?) p.(Ala480Thr) - benign g.42294592C>T g.42437074C>T SLC20A2(NM_001257180.2):c.1438G>A (p.A480T), SLC20A2(NM_006749.4):c.1438G>A (p.A480T) - SLC20A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1438G>A r.(?) p.(Ala480Thr) - likely benign g.42294592C>T g.42437074C>T - - SLC20A2_000014 21 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79577461 Germline - 21/2794 individuals - - - Mohammed Faruq
-?/. - c.1438G>A r.(?) p.(Ala480Thr) - likely benign g.42294592C>T g.42437074C>T - - SLC20A2_000014 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79577461 Germline - 1/2794 individuals - - - Mohammed Faruq
+/. - c.1462_1463insTG r.(?) p.(His488LeufsTer21) - pathogenic g.42294567_42294568insCA - SLC20A2(NM_006749.5):c.1462_1463insTG (p.H488Lfs*21) - C8orf40_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 8 c.1492G>A r.(?) p.(Gly498Arg) - likely pathogenic g.42294538C>T g.42437020C>T - - SLC20A2_000001 not found in 1016 control chromosomes PubMed: Wang 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.1518C>T r.(?) p.(Asp506=) - likely benign g.42294512G>A g.42436994G>A SLC20A2(NM_001257180.2):c.1518C>T (p.D506=) - C8orf40_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1572C>T r.(?) p.(Gly524=) - likely benign g.42287719G>A g.42430201G>A SLC20A2(NM_001257180.2):c.1572C>T (p.G524=) - SLC20A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1580C>T r.(?) p.(Thr527Met) - likely benign g.42287711G>A g.42430193G>A SLC20A2(NM_001257180.2):c.1580C>T (p.T527M) - SLC20A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 9 c.1640G>C r.(?) p.(Gly547Ala) - pathogenic g.42287651C>G g.42430133C>G - - SLC20A2_000047 - - - - Germline yes - - - - Wanjin Chen
+?/. 9 c.1673C>T r.(?) p.(Thr558Ile) - likely pathogenic g.42287618G>A g.42430100G>A - - SLC20A2_000052 - - - - Germline yes - - - - Wanjin Chen
+?/. 9 c.1673C>T r.(?) p.(Thr558Ile) - likely pathogenic g.42287618G>A g.42430100G>A - - SLC20A2_000052 - - - - Germline yes - - - - Wanjin Chen
?/. - c.1703C>T r.(?) p.(Pro568Leu) - VUS g.42287588G>A g.42430070G>A - - SLC20A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 10 c.1723G>A r.(?) p.(Glu575Lys) - likely pathogenic g.42286347C>T g.42428829C>T - - SLC20A2_000005 not found in 576 control chromosomes PubMed: Wang 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.1752C>T r.(?) p.(Ile584=) - likely benign g.42286318G>A g.42428800G>A SLC20A2(NM_001257180.2):c.1752C>T (p.I584=) - C8orf40_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1754C>T r.(?) p.(Ala585Val) - likely pathogenic g.42286316G>A g.42428798G>A - - SLC20A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 10 c.1784C>T r.(?) p.(Thr595Met) - likely pathogenic g.42286286G>A g.42428768G>A - - SLC20A2_000006 not found in 576 control chromosomes PubMed: Wang 2012 - - Germline - - - - - Johan den Dunnen
+?/. 10 c.1787A>G r.(?) p.(His596Arg) - likely pathogenic g.42286283T>C g.42428765T>C - - SLC20A2_000051 - - - - Germline yes - - - - Wanjin Chen
+?/. 10i c.1794+1G>T r.spl? p.? - likely pathogenic g.42286275C>A g.42428757C>A - - SLC20A2_000050 - - - - Germline yes - - - - Wanjin Chen
+?/. 10i c.1794+1G>T r.spl? p.? - likely pathogenic g.42286275C>A g.42428757C>A - - SLC20A2_000050 - - - - Germline yes - - - - Wanjin Chen
?/. - c.1795-16A>G r.(=) p.(=) - VUS g.42275501T>C - SLC20A2(NM_001257180.2):c.1795-16A>G - C8orf40_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 11 c.1802C>G r.(?) p.(Ser601Trp) - likely pathogenic g.42275478G>C g.42417960G>C - - SLC20A2_000002 not found in 1016 control chromosomes PubMed: Wang 2012 - - Germline - - - - - Johan den Dunnen
+?/. 11 c.1802C>T r.(?) p.(Ser601Leu) - likely pathogenic g.42275478G>A g.42417960G>A - - SLC20A2_000003 not found in 1016 control chromosomes PubMed: Wang 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.1803G>C r.(?) p.(Ser601=) - likely benign g.42275477C>G g.42417959C>G SLC20A2(NM_001257180.2):c.1803G>C (p.S601=) - C8orf40_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 11 c.1810G>C r.(?) p.(Ala604Pro) - likely pathogenic g.42275470C>G g.42417952C>G - - SLC20A2_000049 - - - - Germline yes - - - - Wanjin Chen
+?/. 11 c.1811C>T r.(?) p.(Ala604Val) - likely pathogenic g.42275469G>A g.42417951G>A - - SLC20A2_000048 - - - - Germline yes - - - - Wanjin Chen
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