ClinVar for MedGen (Select 761234) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233361	NM_000441.2(SLC26A4):c.304+941C>T	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 3233360	NM_000441.2(SLC26A4):c.1264-6T>G	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 3064784	NM_000441.2(SLC26A4):c.164G>C (p.Ser55Thr)	SLC26A4 (S55T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 2735069	NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)	SLC26A4 (G439R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GLikely pathogenic
Select item 2678944	NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)	SLC26A4 (F223S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic
Select item 2678943	NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)	SLC26A4 (G544fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678942	NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)	SLC26A4 (I539V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678941	NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)	SLC26A4 (D573Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678940	NM_000441.2(SLC26A4):c.414del (p.Gly139fs)	SLC26A4 (G139fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678939	NM_000441.2(SLC26A4):c.2034+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678938	NM_000441.2(SLC26A4):c.1614+1del	SLC26A4	Deletion (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678937	NM_000441.2(SLC26A4):c.1002-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678936	NM_000441.2(SLC26A4):c.1149+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678934	NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)	SLC26A4 (S391N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678933	NM_000441.2(SLC26A4):c.574del (p.Ala191_Leu192insTer)	SLC26A4	Deletion (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678932	NM_000441.2(SLC26A4):c.2035-2A>C	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678931	NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)	SLC26A4 (S517fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678930	NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)	SLC26A4 (A406fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678929	NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)	SLC26A4 (Q750*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678928	NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)	SLC26A4 (Q200*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 2678926	NM_000441.2(SLC26A4):c.1615-1G>T	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678925	NM_000441.2(SLC26A4):c.164+2T>G	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678924	NM_000441.2(SLC26A4):c.2089+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678922	NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)	SLC26A4 (R409L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678921	NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)	SLC26A4 (F683fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678920	NM_000441.2(SLC26A4):c.338del (p.Val113fs)	SLC26A4 (V113fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678919	NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)	SLC26A4 (F484fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678918	NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)	SLC26A4 (W74*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 2678917	NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)	SLC26A4 (Q739fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678916	NM_000441.2(SLC26A4):c.1707+4_1707+7del	SLC26A4	Microsatellite (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678914	NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)	SLC26A4 (Q421*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678912	NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)	SLC26A4 (S234*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 2678911	NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs)	SLC26A4 (P342fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2678910	NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)	SLC26A4 (E626*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 2678909	NM_000441.2(SLC26A4):c.839del (p.Val280fs)	SLC26A4 (V280fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 2678908	NM_000441.2(SLC26A4):c.2035-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678907	NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)	SLC26A4 (R512fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic
Select item 2678906	NM_000441.2(SLC26A4):c.412_415+21delinsTGACA	SLC26A4	Indel (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678904	NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)	SLC26A4 (N457I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 2678903	NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)	SLC26A4 (N558fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678902	NM_000441.2(SLC26A4):c.1002del	SLC26A4	Deletion	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678900	NM_000441.2(SLC26A4):c.1377del (p.Met461fs)	SLC26A4 (M461fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2678899	NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)	SLC26A4 (E635fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2577287	NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)	SLC26A4 (V196D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GConflicting classifications of pathogenicity
Select item 2502901	NM_000441.2(SLC26A4):c.248G>A (p.Trp83Ter)	SLC26A4 (W83*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 2445632	NM_000441.2(SLC26A4):c.1730T>G (p.Val577Gly)	SLC26A4 (V577G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2445631	NM_000441.2(SLC26A4):c.1717G>C (p.Asp573His)	SLC26A4 (D573H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2445630	NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)	SLC26A4 (L68P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 2441543	NM_012188.5(FOXI1):c.80A>C (p.Glu27Ala)	FOXI1 (E27A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 2011758	NM_000441.2(SLC26A4):c.642del (p.Leu215fs)	SLC26A4 (L215fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 1929401	NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)	LOC123956210, SLC26A4 (Q705*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic
Select item 1803929	NM_000441.2(SLC26A4):c.584T>C (p.Leu195Pro)	SLC26A4 (L195P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1799536	NM_000441.2(SLC26A4):c.208C>T (p.Pro70Ser)	SLC26A4 (P70S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1799535	NM_000441.2(SLC26A4):c.107A>C (p.His36Pro)	SLC26A4, SLC26A4-AS1 (H36P)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1724218	NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)	SLC26A4 (T174fs)	Duplication (frameshift variant)	Pendred syndrome +1 more	GLikely pathogenic
Select item 1705336	NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)	SLC26A4	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4	GConflicting classifications of pathogenicity
Select item 1699006	NM_000441.2(SLC26A4):c.736A>C (p.Asn246His)	SLC26A4 (N246H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 1687453	NM_000441.2(SLC26A4):c.1586T>C (p.Ile529Thr)	SLC26A4 (I529T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1685126	NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)	SLC26A4 (Y375C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 1622161	NM_012188.5(FOXI1):c.231C>G (p.Pro77=)	FOXI1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GLikely benign
Select item 1559287	NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr)	FOXI1 (A275T)	Single nucleotide variant (missense variant +1 more)	FOXI1-related disorder +3 more	GLikely benign
Select item 1526244	NM_000441.2(SLC26A4):c.617T>A (p.Leu206Ter)	SLC26A4 (L206*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1503547	NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu)	SLC26A4 (P525L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
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 1427676	NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs)	SLC26A4 (L251fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
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 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 1381247	NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr)	FOXI1 (A255T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 1334127	NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)	SLC26A4 (G95E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic/Likely pathogenic
Select item 1334109	NM_000441.2(SLC26A4):c.1054del (p.Ala352fs)	SLC26A4 (A352fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1334108	NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)	SLC26A4 (P112S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1333518	NM_000441.2(SLC26A4):c.2028del (p.Arg677fs)	SLC26A4 (R677fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1331489	NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu)	SLC26A4 (A429E)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1313170	NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser)	SLC26A4 (N268S)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GUncertain significance
Select item 1309671	NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met)	SLC26A4 (T745M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 1301849	NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)	SLC26A4 (G102R)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 1297074	NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val)	LOC123956210, SLC26A4 (L703V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1297073	NM_000441.2(SLC26A4):c.1985G>A (p.Cys662Tyr)	SLC26A4 (C662Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297072	NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu)	SLC26A4 (F572L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297070	NM_000441.2(SLC26A4):c.1369A>G (p.Asn457Asp)	SLC26A4 (N457D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297069	NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly)	SLC26A4 (D271G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297068	NM_000441.2(SLC26A4):c.624_632delinsACTTGGC (p.Gly209fs)	SLC26A4 (G209fs)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297067	NM_000441.2(SLC26A4):c.421T>C (p.Phe141Leu)	SLC26A4 (F141L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297066	NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg)	SLC26A4 (S93R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1297065	NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg)	SLC26A4 (S532R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1297064	NM_000441.2(SLC26A4):c.1327G>C (p.Glu443Gln)	SLC26A4 (E443Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1297063	NM_000441.2(SLC26A4):c.614G>T (p.Gly205Val)	SLC26A4 (G205V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 1217326	NM_000441.2(SLC26A4):c.1915G>T (p.Asp639Tyr)	SLC26A4 (D639Y)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GUncertain significance
Select item 1210160	NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val)	SLC26A4 (F335V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1209840	NM_000441.2(SLC26A4):c.1861A>G (p.Ile621Val)	SLC26A4 (I621V)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GUncertain significance
Select item 1209839	NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala)	SLC26A4 (G63A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1209710	NM_000441.2(SLC26A4):c.794G>C (p.Gly265Ala)	SLC26A4 (G265A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 1202622	NM_000441.2(SLC26A4):c.1662T>G (p.Ile554Met)	SLC26A4 (I554M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GUncertain significance
Select item 1196044	NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg)	SLC26A4 (G114R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1185695	NM_000441.2(SLC26A4):c.2039del (p.Val680fs)	SLC26A4 (V680fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185694	NM_000441.2(SLC26A4):c.1828del (p.Ser610fs)	SLC26A4 (S610fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185693	NM_000441.2(SLC26A4):c.1803+1G>C	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 1185692	NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser)	SLC26A4 (P553S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1185691	NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly)	SLC26A4 (W518G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 1185690	NM_000441.2(SLC26A4):c.1342-1_1342insCTG	SLC26A4	Insertion (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic

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