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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ10
(R375C)
Single nucleotide variant
(missense variant)
EAST syndrome
+2 more
GUncertain significance
KCNJ10
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
KCNJ10
(K354R)
Single nucleotide variant
(missense variant)
Nonsyndromic Hearing Loss, Recessive
+5 more
GUncertain significance
KCNJ10
(R348H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
KCNJ10
(R348C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
KCNJ10
(Q332E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ10
(R271C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
KCNJ10
(D245E)
Single nucleotide variant
(missense variant)
KCNJ10-related condition
+5 more
GConflicting classifications of pathogenicity
KCNJ10
(R230W)
Single nucleotide variant
(missense variant)
KCNJ10-related condition
+2 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(synonymous variant)
EAST syndrome
+3 more
GConflicting classifications of pathogenicity
KCNJ10
(E177G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KCNJ10
(G132S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
KCNJ10
(L50F)
Single nucleotide variant
(missense variant)
EAST syndrome
+3 more
GUncertain significance
KCNJ10
(D46N)
Single nucleotide variant
(missense variant)
KCNJ10-related condition
+5 more
GConflicting classifications of pathogenicity
KCNJ10
(E42K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNJ10
(R18Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
KCNJ10
Single nucleotide variant
(synonymous variant)
EAST syndrome
+1 more
GConflicting classifications of pathogenicity
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