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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRXCR1
(L223Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
GLikely pathogenic
GRXCR1
(F153V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
GPathogenic
GRXCR1
(E184*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 25
GPathogenic
GRXCR1
(E157*)
Single nucleotide variant
(nonsense)
GRXCR1-related condition
+2 more
GPathogenic/Likely pathogenic
GRXCR1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
(V109I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GRXCR1
(R27*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
GRXCR1
(R147C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
+1 more
GConflicting classifications of pathogenicity
GRXCR1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 25
GPathogenic
GRXCR1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
GRXCR1
(K286N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
(P249A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
(F202L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
(E184V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GRXCR1
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
(F120L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
+1 more
GUncertain significance
GRXCR1
(Y111H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
+2 more
GUncertain significance
GRXCR1
(V97I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
(R95T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
(S79N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
GUncertain significance
GRXCR1
(R17W)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
+2 more
GUncertain significance
GRXCR1
(R262Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 25
+3 more
GConflicting classifications of pathogenicity
GRXCR1
(G91V)
Single nucleotide variant
(missense variant)
GRXCR1-related condition
+3 more
GBenign/Likely benign
GRXCR1
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 25
+2 more
GBenign/Likely benign
GRXCR1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GRXCR1
(E9K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GRXCR1
(A47V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
GRXCR1
(R138C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRXCR1
(Q77*)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
GRXCR1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GRXCR1
Single nucleotide variant
(intron variant)
not provided
GPathogenic
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