ClinVar for MedGen (Select 82890) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362830	NM_000441.2(SLC26A4):c.2161A>G (p.Thr721Ala)	LOC123956210, SLC26A4 (T721A)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 3339201	NM_000441.2(SLC26A4):c.279T>G (p.Ser93Arg)	SLC26A4 (S93R)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
Select item 3336121	NM_000441.2(SLC26A4):c.1596T>A (p.Ser532Arg)	SLC26A4 (S532R)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
Select item 3063653	NC_000007.13:g.(107303881_107312582)_(107315555_107323646)del	SLC26A4	Deletion	Pendred syndrome	GPathogenic
Select item 2506881	NM_000441.2(SLC26A4):c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu)	SLC26A4	Indel (inframe_indel)	Pendred syndrome	GPathogenic
Select item 2506577	NM_000441.2(SLC26A4):c.633A>G (p.Ile211Met)	SLC26A4 (I211M)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 1805109	NM_000441.2(SLC26A4):c.664G>A (p.Gly222Ser)	SLC26A4 (G222S)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic
Select item 1804681	NM_000441.2(SLC26A4):c.1231G>A (p.Ala411Thr)	SLC26A4 (A411T)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
Select item 1726996	NM_000441.2(SLC26A4):c.460_461del (p.Ser154fs)	SLC26A4 (S154fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1726913	NM_000441.2(SLC26A4):c.1790T>A (p.Leu597Ter)	SLC26A4 (L597*)	Single nucleotide variant (nonsense)	Pendred syndrome	GLikely pathogenic
Select item 1726737	NM_000441.2(SLC26A4):c.255del (p.Ser86fs)	SLC26A4 (S86fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1726623	NM_000441.2(SLC26A4):c.2184_2187del (p.Leu729fs)	LOC123956210, SLC26A4 (L729fs)	Microsatellite (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1726478	NM_000441.2(SLC26A4):c.103_104delinsGCTGCT (p.Gln35fs)	SLC26A4, SLC26A4-AS1 (Q35fs)	Indel (non-coding transcript variant +1 more)	Pendred syndrome	GLikely pathogenic
Select item 1726072	NM_000441.2(SLC26A4):c.1154dup (p.Ile386fs)	SLC26A4 (I386fs)	Duplication (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1725898	NM_000441.2(SLC26A4):c.1252G>T (p.Gly418Ter)	SLC26A4 (G418*)	Single nucleotide variant (nonsense)	Pendred syndrome	GLikely pathogenic
Select item 1725722	NM_000441.2(SLC26A4):c.2109_2110del (p.Glu704fs)	LOC123956210, SLC26A4 (E704fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1725695	NM_000441.2(SLC26A4):c.1375A>T (p.Lys459Ter)	SLC26A4 (K459*)	Single nucleotide variant (nonsense)	Pendred syndrome	GLikely pathogenic
Select item 1725664	NM_000441.2(SLC26A4):c.555_556del (p.Arg185fs)	SLC26A4 (R185fs)	Microsatellite (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1725585	NM_000441.2(SLC26A4):c.196A>T (p.Lys66Ter)	SLC26A4 (K66*)	Single nucleotide variant (nonsense)	Pendred syndrome	GLikely pathogenic
Select item 1725558	NM_000441.2(SLC26A4):c.915del (p.Ile305fs)	SLC26A4 (I305fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1725449	NM_000441.2(SLC26A4):c.2062_2071del (p.Val688fs)	SLC26A4 (V688fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1725365	NM_000441.2(SLC26A4):c.78_79del (p.Tyr27fs)	SLC26A4, SLC26A4-AS1 (Y27fs)	Deletion (non-coding transcript variant +1 more)	Pendred syndrome	GLikely pathogenic
Select item 1725142	NM_000441.2(SLC26A4):c.1411_1414del (p.Leu471fs)	SLC26A4 (L471fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1725133	NM_000441.2(SLC26A4):c.1015del (p.Glu339fs)	SLC26A4 (E339fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1724384	NM_000441.2(SLC26A4):c.1191del (p.Phe398fs)	SLC26A4 (F398fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1724352	NM_000441.2(SLC26A4):c.1765C>T (p.Gln589Ter)	SLC26A4 (Q589*)	Single nucleotide variant (nonsense)	Pendred syndrome +1 more	GLikely pathogenic
Select item 1724245	NM_000441.2(SLC26A4):c.1490del (p.Gly497fs)	SLC26A4 (G497fs)	Deletion (frameshift variant)	Pendred syndrome	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 1723960	NM_000441.2(SLC26A4):c.1802del (p.Lys601fs)	SLC26A4 (K601fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1705440	NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)	SLC26A4 (G116S)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GLikely pathogenic
Select item 1699000	NM_000441.2(SLC26A4):c.1829C>A (p.Ser610Ter)	SLC26A4 (S610*)	Single nucleotide variant (nonsense)	Pendred syndrome	GPathogenic
Select item 1685126	NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)	SLC26A4 (Y375C)	Single nucleotide variant (missense variant)	not provided +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)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GLikely benign
Select item 1454511	NM_000441.2(SLC26A4):c.765+3A>T	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1449295	NM_002241.5(KCNJ10):c.635A>G (p.Gln212Arg)	KCNJ10 (Q212R)	Single nucleotide variant (missense variant)	EAST syndrome +2 more	GUncertain significance
Select item 1384371	NM_002241.5(KCNJ10):c.178A>G (p.Ile60Val)	KCNJ10 (I60V)	Single nucleotide variant (missense variant)	EAST syndrome +2 more	GUncertain significance
Select item 1382151	NM_002241.5(KCNJ10):c.248G>C (p.Gly83Ala)	KCNJ10 (G83A)	Single nucleotide variant (missense variant)	EAST 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 provided +3 more	GUncertain significance
Select item 1346580	NM_000441.2(SLC26A4):c.347G>T (p.Gly116Val)	SLC26A4 (G116V)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GLikely pathogenic
Select item 1334160	NM_000441.2(SLC26A4):c.232T>C (p.Tyr78His)	SLC26A4 (Y78H)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
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 1297073	NM_000441.2(SLC26A4):c.1985G>A (p.Cys662Tyr)	SLC26A4 (C662Y)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic
Select item 1297072	NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu)	SLC26A4 (F572L)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
Select item 1246093	NM_000441.2(SLC26A4):c.2090-59AAAC[3]	LOC123956210, SLC26A4	Microsatellite (intron variant)	not provided	GBenign
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 1215297	NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val)	SLC26A4 (I136V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1214607	NM_000441.2(SLC26A4):c.1047G>A (p.Met349Ile)	SLC26A4 (M349I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Pendred syndrome +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 1205228	NM_000441.2(SLC26A4):c.2089+3A>G	SLC26A4	Single nucleotide variant (intron variant)	not provided	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 1187576	NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser)	SLC26A4 (L743S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1174655	NM_000441.2(SLC26A4):c.2272_2273insCTT (p.Glu757_Leu758insSer)	SLC26A4	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1165813	NM_000441.2(SLC26A4):c.2236-25T>A	SLC26A4	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1153220	NM_000441.2(SLC26A4):c.990C>T (p.Ser330=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1132489	NM_000441.2(SLC26A4):c.768G>A (p.Thr256=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1111004	NM_000441.2(SLC26A4):c.1287G>A (p.Ala429=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095500	NM_000441.2(SLC26A4):c.510A>G (p.Val170=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075541	NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)	SLC26A4 (S57*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic
Select item 1067344	NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)	SLC26A4 (G424D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065210	NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)	SLC26A4 (S252P)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
Select item 1065108	NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs)	DIAPH1 (P605fs +1 more)	Duplication (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 1065046	NM_000441.2(SLC26A4):c.1280C>A (p.Ser427Tyr)	SLC26A4 (S427Y)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
Select item 1065045	NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter)	SLC26A4 (Q235*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1064962	NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp)	FOXI1 (G103W)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 1064942	NM_194248.3(OTOF):c.2983T>C (p.Cys995Arg)	OTOF (C248R +2 more)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 1064901	NM_020982.4(CLDN9):c.500dup (p.Trp168fs)	CLDN9 (W168fs)	Duplication (frameshift variant)	Pendred syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1064674	NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)	SLC26A4 (V480D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1058689	NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp)	KCNJ10 (R27W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 1052382	NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His)	KCNJ10 (R343H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 1041315	NM_002241.5(KCNJ10):c.541T>C (p.Phe181Leu)	KCNJ10 (F181L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1038534	NM_002241.5(KCNJ10):c.83G>A (p.Arg28Gln)	KCNJ10 (R28Q)	Single nucleotide variant (missense variant)	EAST syndrome +2 more	GUncertain significance
Select item 1033029	NM_000441.2(SLC26A4):c.1615-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1028757	NM_000441.2(SLC26A4):c.765+4A>T	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GUncertain significance
Select item 1028756	NM_000441.2(SLC26A4):c.515A>G (p.Asn172Ser)	SLC26A4 (N172S)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 1017047	NM_002241.5(KCNJ10):c.5C>G (p.Thr2Arg)	KCNJ10 (T2R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 998002	NM_000441.2(SLC26A4):c.[2168A>G;2326C>G]	LOC123956210, SLC26A4 (H723R +1 more)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
Select item 996638	NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)	SLC26A4 (G139V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 990101	NM_000441.2(SLC26A4):c.2151A>C (p.Thr717=)	LOC123956210, SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990100	NM_000441.2(SLC26A4):c.1696A>G (p.Ile566Val)	SLC26A4 (I566V)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 990099	NM_000441.2(SLC26A4):c.977G>C (p.Gly326Ala)	SLC26A4 (G326A)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 990098	NM_000441.2(SLC26A4):c.187G>A (p.Gly63Ser)	SLC26A4 (G63S)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 981949	NM_000441.2(SLC26A4):c.1087A>C (p.Ile363Leu)	SLC26A4 (I363L)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic
Select item 949741	NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)	LOC123956210, SLC26A4 (H723D)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
Select item 934084	NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe)	KCNJ10 (L81F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GUncertain significance
Select item 912195	NM_000441.2(SLC26A4):c.*1945G>A	SLC26A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 912194	NM_000441.2(SLC26A4):c.*1905G>A	SLC26A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 912132	NM_000441.2(SLC26A4):c.*1466T>A	SLC26A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 912131	NM_000441.2(SLC26A4):c.*1302T>G	SLC26A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GBenign/Likely benign
Select item 912067	NM_000441.2(SLC26A4):c.*376A>G	SLC26A4	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912066	NM_000441.2(SLC26A4):c.*351G>A	SLC26A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 912065	NM_000441.2(SLC26A4):c.*350C>T	SLC26A4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GConflicting classifications of pathogenicity
Select item 912008	NM_000441.2(SLC26A4):c.2236-6T>C	SLC26A4	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912007	NM_000441.2(SLC26A4):c.2236-15G>A	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity
Select item 911848	NM_000441.2(SLC26A4):c.190G>A (p.Val64Met)	SLC26A4 (V64M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 910952	NM_000441.2(SLC26A4):c.*1868C>G	SLC26A4	Single nucleotide variant (3 prime UTR variant)	Pendred syndrome +1 more	GUncertain significance

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