Full data view for gene RGS12

Information The variants shown are described using the NM_198229.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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     
./. - c.-3245226_1999-12506del r.(=) p.(=) Unknown - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. 2 c.188A>T r.(?) p.(Gln63Leu) Both (homozygous) - VUS g.3318085A>T g.3316358A>T - - RGS12_000003 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - rs537451677 Germline - - - - - DNA SEQ, SEQ-NG-I - - ID 26996948-FamPatV5[EG02] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 PatV5[EG02] F yes Egypt - >14y - - Combiantion of valproate and topiramate 1 Jamie Zeegers
?/. 2 c.188A>T r.(?) p.(Gln63Leu) Both (homozygous) - VUS g.3318085A>T g.3316358A>T - - RGS12_000003 - PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 - rs537451677 Germline - - - - - DNA SEQ, SEQ-NG-I - - ID 26996948-FamPatV1[EG01] PubMed: Makrythanasis 2016, Journal: Makrythanasis 2016 2-generation family, 2-affected sisters, PatV1[EG01] F yes Egypt - >24y - - Combiantion of valproate and carbamazepine 2 Jamie Zeegers
?/. - c.521C>T r.(?) p.(Ser174Leu) Unknown - VUS g.3318418C>T g.3316691C>T RGS12(NM_002926.3):c.521C>T (p.S174L) - RGS12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1927C>T r.(?) p.(Arg643Cys) Unknown - VUS g.3344709C>T g.3342982C>T RGS12(NM_002926.3):c.1927C>T (p.(Arg643Cys)) - RGS12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 C1 Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1b EUR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 B1a Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 C1 Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A5b Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 C1 Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 C1 Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 C1 Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1axC1 AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1ax AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A5a Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A5a Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A5a Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 C1 Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 C1 Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 C1 Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A2bx Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 B2b Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A5b Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #2 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1axC1 AMR-X Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2021-6440A>G r.(=) p.(=) Parent #1 - benign g.3409359A>G g.3407632A>G - - RGS12_000001 A1a AMR Kay, submitted EJHG - rs1730768 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #1 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 C1 Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 B1a Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #1 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 C1 Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A5b Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #1 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A2a Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 C1 Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 C1 Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 C1 Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A1axC1 AMR Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #1 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A1ax AMR Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #1 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A2a Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A5a Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A5a Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A5a Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #1 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 C1 Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 C1 Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 C1 Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #1 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A2bx Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 B2b Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A5b Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
./. - c.2761+572G>A r.(=) p.(=) Parent #2 - benign g.3419840G>A g.3418113G>A - - RGS12_000002 A1axC1 AMR-X Kay, submitted EJHG - rs12641989 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
?/. - c.3533A>T r.(?) p.(Lys1178Ile) Unknown - VUS g.3430406A>T g.3428679A>T RGS12(NM_002926.3):c.3533A>T (p.K1178I) - RGS12_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2358C>T r.(=) p.(=) Unknown - likely benign g.3443769C>T g.3442042C>T HGFAC(NM_001528.2):c.41C>T (p.(Pro14Leu)) - HGFAC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3066G>C r.(=) p.(=) Unknown - likely benign g.3444477G>C - HGFAC(NM_001528.2):c.136G>C (p.(Glu46Gln)) - HGFAC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3435C>T r.(=) p.(=) Unknown - likely benign g.3444846C>T - HGFAC(NM_001528.4):c.368C>T (p.(Thr123Ile)) - HGFAC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4373C>T r.(=) p.(=) Unknown - VUS g.3445784C>T - HGFAC(NM_001528.4):c.494C>T (p.(Ala165Val)) - HGFAC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4412C>A r.(=) p.(=) Unknown - VUS g.3445823C>A - HGFAC(NM_001528.2):c.533C>A (p.(Thr178Asn)) - HGFAC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4647C>T r.(=) p.(=) Unknown - VUS g.3446058C>T g.3444331C>T HGFAC(NM_001528.2):c.619C>T (p.(Arg207Cys)) - HGFAC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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