"Fulgent Genetics, Fulgent Genetics"[submitter] AND "KCNJ10"[gene] - ClinVar

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Items: 34

	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)	Inborn genetic diseases +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)	Autosomal recessive nonsyndromic hearing loss 4 +5 more	GConflicting classifications of pathogenicity
Select item 451985	NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn)	KCNJ10 (D351N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 411159	NM_002241.5(KCNJ10):c.1048G>A (p.Gly350Arg)	KCNJ10 (G350R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 205823	NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)	KCNJ10 (R348H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +5 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 663852	NM_002241.5(KCNJ10):c.934_935delinsTT (p.Thr312Leu)	KCNJ10 (T312L)	Indel (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GUncertain significance
Select item 516125	NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=)	KCNJ10	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 7467	NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	KCNJ10 (R297C)	Single nucleotide variant (missense variant)	EAST 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)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GUncertain significance
Select item 205829	NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe)	KCNJ10 (L218F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GUncertain significance
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 7463	NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)	KCNJ10 (R199*)	Single nucleotide variant (nonsense)	EAST 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)	EAST 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)	not provided +3 more	GUncertain significance
Select item 205819	NM_002241.5(KCNJ10):c.250G>A (p.Val84Met)	KCNJ10 (V84M)	Single nucleotide variant (missense variant)	EAST syndrome +4 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 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 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 282077	NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe)	KCNJ10 (L50F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GUncertain significance
Select item 470191	NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr)	KCNJ10 (A45T)	Single nucleotide variant (missense variant)	KCNJ10-related disorder +5 more	GUncertain significance
Select item 447633	NM_002241.5(KCNJ10):c.114C>T (p.Asn38=)	KCNJ10	Single nucleotide variant (synonymous variant)	not provided +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)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 211218	NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)	KCNJ10 (R26*)	Single nucleotide variant (nonsense)	EAST syndrome +5 more	GConflicting classifications of pathogenicity
Select item 470193	NM_002241.5(KCNJ10):c.39T>A (p.Thr13=)	KCNJ10	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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

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Items: 34