C0271829[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 856585	NM_002241.5(KCNJ10):c.1140A>T (p.Ter380Cys)	KCNJ10	Single nucleotide variant (stop lost)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 378003	NM_002241.5(KCNJ10):c.1137C>G (p.Val379=)	KCNJ10	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 470190	NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln)	KCNJ10 (E368Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GUncertain significance
Select item 205824	NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg)	KCNJ10 (K354R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 451985	NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn)	KCNJ10 (D351N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 411159	NM_002241.5(KCNJ10):c.1048G>A (p.Gly350Arg)	KCNJ10 (G350R)	Single nucleotide variant (missense variant)	EAST syndrome +2 more	GUncertain significance
Select item 205823	NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)	KCNJ10 (R348H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1052382	NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His)	KCNJ10 (R343H)	Single nucleotide variant (missense variant)	EAST syndrome +2 more	GUncertain significance
Select item 663852	NM_002241.5(KCNJ10):c.934_935delinsTT (p.Thr312Leu)	KCNJ10 (T312L)	Indel (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 516125	NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome +4 more	GBenign/Likely benign
Select item 7467	NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	KCNJ10 (R297C)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GPathogenic/Likely pathogenic
Select item 470194	NM_002241.5(KCNJ10):c.689G>A (p.Arg230Gln)	KCNJ10 (R230Q)	Single nucleotide variant (missense variant)	EAST syndrome +3 more	GUncertain significance
Select item 205829	NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe)	KCNJ10 (L218F)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	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 7463	NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)	KCNJ10 (R199*)	Single nucleotide variant (nonsense)	Pendred syndrome +3 more	GPathogenic/Likely pathogenic
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 537736	NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp)	KCNJ10 (R171W)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GUncertain significance
Select item 7466	NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val)	KCNJ10 (A167V)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GPathogenic
Select item 205828	NM_002241.5(KCNJ10):c.427G>A (p.Ala143Thr)	KCNJ10 (A143T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 582279	NM_002241.5(KCNJ10):c.385A>G (p.Ile129Val)	KCNJ10 (I129V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 742391	NM_002241.5(KCNJ10):c.366C>T (p.Ser122=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome +2 more	GLikely benign
Select item 293120	NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro)	KCNJ10 (L99P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GUncertain significance
Select item 205819	NM_002241.5(KCNJ10):c.250G>A (p.Val84Met)	KCNJ10 (V84M)	Single nucleotide variant (missense variant)	not provided +4 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 934084	NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe)	KCNJ10 (L81F)	Single nucleotide variant (missense variant)	EAST syndrome +3 more	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 282077	NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe)	KCNJ10 (L50F)	Single nucleotide variant (missense variant)	EAST syndrome +3 more	GUncertain significance
Select item 470191	NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr)	KCNJ10 (A45T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 447633	NM_002241.5(KCNJ10):c.114C>T (p.Asn38=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome +5 more	GLikely benign
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 1058689	NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp)	KCNJ10 (R27W)	Single nucleotide variant (missense variant)	EAST syndrome +2 more	GUncertain significance
Select item 211218	NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)	KCNJ10 (R26*)	Single nucleotide variant (nonsense)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 470193	NM_002241.5(KCNJ10):c.39T>A (p.Thr13=)	KCNJ10	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
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 352700	NM_012188.5(FOXI1):c.-18G>A	FOXI1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
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 1064962	NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp)	FOXI1 (G103W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 905416	NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg)	FOXI1 (K182R)	Single nucleotide variant (missense variant)	not specified +2 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 8449	NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu)	FOXI1 (G258E)	Single nucleotide variant (missense variant +1 more)	Pendred syndrome +2 more	GUncertain significance
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 905931	NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg)	FOXI1 (G218R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 352711	NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val)	FOXI1 (A338V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 352712	NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile)	FOXI1 (S363I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 908001	NM_012188.5(FOXI1):c.1090G>A (p.Val364Ile)	FOXI1 (V269I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 43486	NM_000441.2(SLC26A4):c.-3-2A>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 4839	NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	SLC26A4, SLC26A4-AS1 (E29Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 552271	NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly)	SLC26A4, SLC26A4-AS1 (E29G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 504923	NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)	SLC26A4, SLC26A4-AS1 (R43H)	Single nucleotide variant (non-coding transcript variant +1 more)	Pendred syndrome +3 more	GUncertain significance
Select item 502106	NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln)	SLC26A4 (R79Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	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 43555	NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	SLC26A4 (L117F)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 4835	NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	SLC26A4 (V138F)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 43558	NM_000441.2(SLC26A4):c.416-7T>C	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 371079	NM_000441.2(SLC26A4):c.416-1G>A	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic
Select item 188878	NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	SLC26A4 (R185T)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 4830	NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	SLC26A4 (T193I)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 43562	NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	SLC26A4 (G197R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 4821	NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	SLC26A4 (G209V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 43565	NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	SLC26A4 (L236V)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 4817	NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	SLC26A4 (L236P)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 1065210	NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)	SLC26A4 (S252P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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 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 43568	NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)	SLC26A4 (C282Y)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43570	NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)	SLC26A4 (I300L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 4840	NM_000441.2(SLC26A4):c.919-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 43574	NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)	SLC26A4 (N324Y)	Single nucleotide variant (missense variant)	not specified +3 more	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 189039	NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	SLC26A4 (G334V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4819	NM_000441.2(SLC26A4):c.1001+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +4 more	GPathogenic
Select item 4842	NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	SLC26A4 (F335L)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
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 43493	NM_000441.2(SLC26A4):c.1149+3A>G	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic
Select item 4820	NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	SLC26A4 (E384G)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 554065	NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro)	SLC26A4 (S399P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 43494	NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	SLC26A4 (C400fs)	Deletion	not provided +3 more	GPathogenic/Likely pathogenic
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	not specified +5 more	GPathogenic/Likely pathogenic
Select item 43498	NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	SLC26A4 (T410M)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 43499	NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)	SLC26A4 (V412I)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 4818	NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	SLC26A4 (T416P)	Single nucleotide variant (missense variant)	Pendred syndrome +4 more	GConflicting classifications of pathogenicity
Select item 43500	NM_000441.2(SLC26A4):c.1264-1G>C	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 43501	NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	SLC26A4 (A429del)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic/Likely pathogenic
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 591607	NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp)	SLC26A4 (A434D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 550505	NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	SLC26A4 (Q446R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 549979	NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)	SLC26A4 (S448L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43507	NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)	SLC26A4 (I455F)	Single nucleotide variant (missense variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 550964	NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His)	SLC26A4 (R470H)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GUncertain significance
Select item 4841	NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)	SLC26A4 (Q514K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 43513	NM_000441.2(SLC26A4):c.1545-5T>G	SLC26A4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 43516	NM_000441.2(SLC26A4):c.1614+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 229254	NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)	SLC26A4 (D560N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 552759	NM_000441.2(SLC26A4):c.1707+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +1 more	GLikely pathogenic
Select item 641953	NM_000441.2(SLC26A4):c.1708-1G>T	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 43521	NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	SLC26A4 (V570I)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43525	NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)	SLC26A4 (L597S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 43526	NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)	SLC26A4 (V609G)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 358501	NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile)	SLC26A4 (V670I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance

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