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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH1C
(G507S +2 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+4 more
GUncertain significance
USH1C
(H793Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
USH1C
(R473W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
USH1C
(R438H +2 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+3 more
GUncertain significance
USH1C
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1
+3 more
GPathogenic/Likely pathogenic
USH1C
(R431Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 1
+4 more
GLikely benign
USH1C
(R598H)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1
+3 more
GUncertain significance
USH1C
(H376Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
USH1C
(D265N)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+2 more
GUncertain significance
USH1C
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic
USH1C
(V130I)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+4 more
GBenign/Likely benign
USH1C
(G121S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
USH1C
(R80fs)
Duplication
(frameshift variant +1 more)
Usher syndrome
+6 more
GPathogenic
USH1C
Single nucleotide variant
(synonymous variant +1 more)
Rare genetic deafness
+5 more
GPathogenic
USH1C
(R63Q)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+3 more
GUncertain significance
USH1C
(N51S)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 1C
+3 more
GLikely benign
USH1C
(R31*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
USH1C
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 1C
+2 more
GUncertain significance
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