ClinVar for MedGen (Select 411243) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064453	NM_002241.5(KCNJ10):c.690G>A (p.Arg230=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 3061960	NM_002241.5(KCNJ10):c.170C>T (p.Thr57Ile)	KCNJ10 (T57I)	Single nucleotide variant (missense variant)	EAST syndrome	GLikely pathogenic
Select item 3008147	NM_002241.5(KCNJ10):c.504G>A (p.Lys168=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 3006500	NM_002241.5(KCNJ10):c.825T>C (p.Gly275=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2997405	NM_002241.5(KCNJ10):c.552T>C (p.His184=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2917623	NM_002241.5(KCNJ10):c.111C>T (p.Ser37=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2916226	NM_002241.5(KCNJ10):c.159G>A (p.Lys53=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2900828	NM_002241.5(KCNJ10):c.135C>A (p.Ala45=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2898358	NM_002241.5(KCNJ10):c.236G>A (p.Trp79Ter)	KCNJ10 (W79*)	Single nucleotide variant (nonsense)	EAST syndrome	GPathogenic
Select item 2874678	NM_002241.5(KCNJ10):c.699G>A (p.Gln233=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2844275	NM_002241.5(KCNJ10):c.38C>G (p.Thr13Ser)	KCNJ10 (T13S)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2827804	NM_002241.5(KCNJ10):c.1041A>G (p.Val347=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2817984	NM_002241.5(KCNJ10):c.211_212del (p.Phe71fs)	KCNJ10 (F71fs)	Deletion (frameshift variant)	EAST syndrome	GPathogenic
Select item 2813570	NM_002241.5(KCNJ10):c.19_20insC (p.Val7fs)	KCNJ10 (V7fs)	Insertion (frameshift variant)	EAST syndrome	GPathogenic
Select item 2813485	NM_002241.5(KCNJ10):c.798dup (p.Asp267fs)	KCNJ10 (D267fs)	Duplication (frameshift variant)	EAST syndrome	GPathogenic
Select item 2790089	NM_002241.5(KCNJ10):c.282G>A (p.Gly94=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2786315	NM_002241.5(KCNJ10):c.173C>T (p.Thr58Ile)	KCNJ10 (T58I)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2759888	NM_002241.5(KCNJ10):c.306G>A (p.Pro102=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2717680	NM_002241.5(KCNJ10):c.1081T>C (p.Leu361=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2627985	NM_002241.5(KCNJ10):c.406A>G (p.Ile136Val)	KCNJ10 (I136V)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2573206	NM_002241.5(KCNJ10):c.305dup (p.Ala103fs)	KCNJ10 (A103fs)	Duplication (frameshift variant)	EAST syndrome	GLikely pathogenic
Select item 2428031	NM_002241.5(KCNJ10):c.143G>A (p.Arg48His)	KCNJ10 (R48H)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2196878	NM_002241.5(KCNJ10):c.718G>A (p.Val240Ile)	KCNJ10 (V240I)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2182383	NM_002241.5(KCNJ10):c.981T>C (p.Phe327=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2168105	NM_002241.5(KCNJ10):c.1112C>T (p.Ala371Val)	KCNJ10 (A371V)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2153883	NM_002241.5(KCNJ10):c.679G>C (p.Glu227Gln)	KCNJ10 (E227Q)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2145785	NM_002241.5(KCNJ10):c.151T>C (p.Tyr51His)	KCNJ10 (Y51H)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2134460	NM_002241.5(KCNJ10):c.67C>T (p.Pro23Ser)	KCNJ10 (P23S)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2130722	NM_002241.5(KCNJ10):c.938C>G (p.Pro313Arg)	KCNJ10 (P313R)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2123957	NM_002241.5(KCNJ10):c.265G>A (p.Val89Ile)	KCNJ10 (V89I)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2112427	NM_002241.5(KCNJ10):c.31C>A (p.Gln11Lys)	KCNJ10 (Q11K)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2111058	NM_002241.5(KCNJ10):c.757C>A (p.Leu253Ile)	KCNJ10 (L253I)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2106929	NM_002241.5(KCNJ10):c.971T>C (p.Ile324Thr)	KCNJ10 (I324T)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2092813	NM_002241.5(KCNJ10):c.934A>G (p.Thr312Ala)	KCNJ10 (T312A)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2087381	NM_002241.5(KCNJ10):c.469C>T (p.Leu157=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2080163	NM_002241.5(KCNJ10):c.447C>T (p.Ala149=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2068038	NM_002241.5(KCNJ10):c.36C>A (p.Thr12=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2058347	NM_002241.5(KCNJ10):c.6G>A (p.Thr2=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2055240	NM_002241.5(KCNJ10):c.1023C>A (p.Gly341=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2052292	NM_002241.5(KCNJ10):c.294G>A (p.Glu98=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2028813	NM_002241.5(KCNJ10):c.30T>C (p.Ser10=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2028663	NM_002241.5(KCNJ10):c.573T>C (p.Asn191=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2027215	NM_002241.5(KCNJ10):c.162C>T (p.Asp54=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2024039	NM_002241.5(KCNJ10):c.765C>T (p.Phe255=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2014356	NM_002241.5(KCNJ10):c.503A>T (p.Lys168Met)	KCNJ10 (K168M)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 2012535	NM_002241.5(KCNJ10):c.585C>T (p.Cys195=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 2007697	NM_002241.5(KCNJ10):c.572A>G (p.Asn191Ser)	KCNJ10 (N191S)	Single nucleotide variant (missense variant)	EAST syndrome +1 more	GUncertain significance
Select item 2005023	NM_002241.5(KCNJ10):c.645A>G (p.Gly215=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1999671	NM_002241.5(KCNJ10):c.938C>T (p.Pro313Leu)	KCNJ10 (P313L)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1998652	NM_002241.5(KCNJ10):c.1044C>T (p.Arg348=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1969889	NM_002241.5(KCNJ10):c.882T>C (p.Cys294=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1969885	NM_002241.5(KCNJ10):c.1011C>T (p.Ala337=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1969449	NM_002241.5(KCNJ10):c.633C>T (p.Cys211=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1959080	NM_002241.5(KCNJ10):c.130A>G (p.Ile44Val)	KCNJ10 (I44V)	Single nucleotide variant (missense variant)	EAST syndrome +1 more	GUncertain significance
Select item 1949007	NM_002241.5(KCNJ10):c.808C>G (p.Leu270Val)	KCNJ10 (L270V)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1936778	NM_002241.5(KCNJ10):c.516C>A (p.Pro172=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1935339	NM_002241.5(KCNJ10):c.851G>A (p.Ser284Asn)	KCNJ10 (S284N)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1931841	NM_002241.5(KCNJ10):c.1007T>C (p.Val336Ala)	KCNJ10 (V336A)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1931422	NM_002241.5(KCNJ10):c.180T>C (p.Ile60=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1926277	NM_002241.5(KCNJ10):c.642A>G (p.Thr214=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1905510	NM_002241.5(KCNJ10):c.813C>T (p.Arg271=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1899604	NM_002241.5(KCNJ10):c.25T>C (p.Tyr9His)	KCNJ10 (Y9H)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1752275	NM_002241.5(KCNJ10):c.621C>T (p.Leu207=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome +1 more	GLikely benign
Select item 1716684	NM_002241.5(KCNJ10):c.67C>A (p.Pro23Thr)	KCNJ10 (P23T)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1683588	NM_002241.5(KCNJ10):c.497T>C (p.Leu166Pro)	KCNJ10 (L166P)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1670564	NM_002241.5(KCNJ10):c.1134T>C (p.Asn378=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1645302	NM_002241.5(KCNJ10):c.687C>T (p.Ile229=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1631560	NM_002241.5(KCNJ10):c.1077G>A (p.Glu359=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1613092	NM_002241.5(KCNJ10):c.831T>C (p.Phe277=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1588234	NM_002241.5(KCNJ10):c.96A>C (p.Thr32=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1534040	NM_002241.5(KCNJ10):c.894T>G (p.Thr298=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1529265	NM_002241.5(KCNJ10):c.424C>T (p.Leu142=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GLikely benign
Select item 1525771	NM_002241.5(KCNJ10):c.605A>G (p.Asn202Ser)	KCNJ10 (N202S)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1516197	NM_002241.5(KCNJ10):c.984C>A (p.Ser328Arg)	KCNJ10 (S328R)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1499206	NM_002241.5(KCNJ10):c.466A>G (p.Ile156Val)	KCNJ10 (I156V)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1494859	NM_002241.5(KCNJ10):c.63G>T (p.Met21Ile)	KCNJ10 (M21I)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1487242	NM_002241.5(KCNJ10):c.611G>A (p.Arg204His)	KCNJ10 (R204H)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1479517	NM_002241.5(KCNJ10):c.1042C>G (p.Arg348Gly)	KCNJ10 (R348G)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1460765	NM_002241.5(KCNJ10):c.157A>G (p.Lys53Glu)	KCNJ10 (K53E)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1449295	NM_002241.5(KCNJ10):c.635A>G (p.Gln212Arg)	KCNJ10 (Q212R)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GUncertain significance
Select item 1443375	NM_002241.5(KCNJ10):c.238T>G (p.Phe80Val)	KCNJ10 (F80V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439516	NM_002241.5(KCNJ10):c.1132A>T (p.Asn378Tyr)	KCNJ10 (N378Y)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1413700	NM_002241.5(KCNJ10):c.317C>T (p.Thr106Ile)	KCNJ10 (T106I)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1410838	NM_002241.5(KCNJ10):c.1075G>T (p.Glu359Ter)	KCNJ10 (E359*)	Single nucleotide variant (nonsense)	EAST syndrome	GUncertain significance
Select item 1402638	NM_002241.5(KCNJ10):c.304C>T (p.Pro102Ser)	KCNJ10 (P102S)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1396456	NM_002241.5(KCNJ10):c.880T>C (p.Cys294Arg)	KCNJ10 (C294R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1396093	NM_002241.5(KCNJ10):c.478T>C (p.Phe160Leu)	KCNJ10 (F160L)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1395317	NM_002241.5(KCNJ10):c.235T>C (p.Trp79Arg)	KCNJ10 (W79R)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1384371	NM_002241.5(KCNJ10):c.178A>G (p.Ile60Val)	KCNJ10 (I60V)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GUncertain significance
Select item 1382196	NM_002241.5(KCNJ10):c.305del (p.Pro102fs)	KCNJ10 (P102fs)	Deletion (frameshift variant)	EAST syndrome	GPathogenic
Select item 1382151	NM_002241.5(KCNJ10):c.248G>C (p.Gly83Ala)	KCNJ10 (G83A)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GUncertain significance
Select item 1376863	NM_002241.5(KCNJ10):c.610C>T (p.Arg204Cys)	KCNJ10 (R204C)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1366335	NM_002241.5(KCNJ10):c.1087G>C (p.Glu363Gln)	KCNJ10 (E363Q)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1362565	NM_002241.5(KCNJ10):c.538C>T (p.Arg180Cys)	KCNJ10 (R180C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1359521	NM_002241.5(KCNJ10):c.551A>C (p.His184Pro)	KCNJ10 (H184P)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1355683	NM_002241.5(KCNJ10):c.340A>G (p.Thr114Ala)	KCNJ10 (T114A)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1354640	NM_002241.5(KCNJ10):c.305C>G (p.Pro102Arg)	KCNJ10 (P102R)	Single nucleotide variant (missense variant)	EAST syndrome	GUncertain significance
Select item 1335935	NM_002241.5(KCNJ10):c.115G>A (p.Val39Met)	KCNJ10 (V39M)	Single nucleotide variant (missense variant)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 1331196	NM_002241.5(KCNJ10):c.331C>G (p.Gln111Glu)	KCNJ10 (Q111E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299582	NM_002241.5(KCNJ10):c.400C>A (p.Arg134Ser)	KCNJ10 (R134S)	Single nucleotide variant (missense variant)	EAST syndrome	GLikely pathogenic

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