Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_002241.4(KCNJ10):c.889C>T (p.Arg297Cys) | 3766 | KCNJ10 | Pathogenic | 137853071 | RCV000007893; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160011434 | 160011434 | NM_002241.4:c.889C>T | NP_002232.2:p.Arg297Cys | NC_000001.10:g.160011434G>A | OMIM Allelic Variant:602208.0006 | C2748572 612780 SeSAME syndrome | | |
NM_002241.4(KCNJ10):c.595C>T (p.Arg199Ter) | 3766 | KCNJ10 | Pathogenic | 137853067 | RCV000007889; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160011728 | 160011728 | NM_002241.4:c.595C>T | NP_002232.2:p.Arg199Ter | NC_000001.10:g.160011728G>A | OMIM Allelic Variant:602208.0002 | C2748572 612780 SeSAME syndrome | | |
NM_002241.4(KCNJ10):c.524G>A (p.Arg175Gln) | 3766 | KCNJ10 | Pathogenic | 397514673 | RCV000034356; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160011799 | 160011799 | NM_002241.4:c.524G>A | NP_002232.2:p.Arg175Gln | NC_000001.10:g.160011799C>T | OMIM Allelic Variant:602208.0013 | C2748572 612780 SeSAME syndrome | | |
NM_002241.4(KCNJ10):c.500C>T (p.Ala167Val) | 3766 | KCNJ10 | Pathogenic | 137853070 | RCV000007892; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160011823 | 160011823 | NM_002241.4:c.500C>T | NP_002232.2:p.Ala167Val | NC_000001.10:g.160011823G>A | OMIM Allelic Variant:602208.0005 | C2748572 612780 SeSAME syndrome | | |
NM_002241.4(KCNJ10):c.491C>T (p.Thr164Ile) | 3766 | KCNJ10 | Pathogenic | 137853069 | RCV000007891; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160011832 | 160011832 | NM_002241.4:c.491C>T | NP_002232.2:p.Thr164Ile | NC_000001.10:g.160011832G>A | OMIM Allelic Variant:602208.0004 | C2748572 612780 SeSAME syndrome | | |
NM_002241.4(KCNJ10):c.418T>C (p.Cys140Arg) | 3766 | KCNJ10 | Pathogenic | 137853068 | RCV000007890; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160011905 | 160011905 | NM_002241.4:c.418T>C | NP_002232.2:p.Cys140Arg | NC_000001.10:g.160011905A>G | OMIM Allelic Variant:602208.0003 | C2748572 612780 SeSAME syndrome | | |
NM_002241.4(KCNJ10):c.229G>C (p.Gly77Arg) | 3766 | KCNJ10 | Pathogenic | 137853072 | RCV000007894; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160012094 | 160012094 | NM_002241.4:c.229G>C | NP_002232.2:p.Gly77Arg | NC_000001.10:g.160012094C>G | OMIM Allelic Variant:602208.0007 | C2748572 612780 SeSAME syndrome | | |
NM_002241.4(KCNJ10):c.194G>C (p.Arg65Pro) | 3766 | KCNJ10 | Pathogenic | 137853066 | RCV000007888; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160012129 | 160012129 | NM_002241.4:c.194G>C | NP_002232.2:p.Arg65Pro | NC_000001.10:g.160012129C>G | OMIM Allelic Variant:602208.0001 | C2748572 612780 SeSAME syndrome | | |
NM_002241.4(KCNJ10):c.193C>T (p.Arg65Cys) | 3766 | KCNJ10 | Pathogenic | 387906834 | RCV000023175; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160012130 | 160012130 | NM_002241.4:c.193C>T | NP_002232.2:p.Arg65Cys | NC_000001.10:g.160012130G>A | OMIM Allelic Variant:602208.0010 | C2748572 612780 SeSAME syndrome | | |
NM_002241.4(KCNJ10):c.76C>T (p.Arg26Ter) | 3766 | KCNJ10 | Likely pathogenic | 138943405 | RCV000193637; | N | MedGen:C2748572,OMIM:612780,ORPHA:199343 | 1 | 160012247 | 160012247 | NM_002241.4:c.76C>T | NP_002232.2:p.Arg26Ter | NC_000001.10:g.160012247G>A | - | C2748572 612780 SeSAME syndrome | | |