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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GIPC3
(P35A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 15
GUncertain significance
GIPC3
(G227E)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 15
GUncertain significance
GIPC3
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 15
+1 more
GBenign
GIPC3
(M1fs)
Deletion
(frameshift variant +3 more)
Autosomal recessive nonsyndromic hearing loss 15
GLikely pathogenic
GIPC3
(D198Y)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 15
GUncertain significance
GIPC3
(R107P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 15
GUncertain significance
GIPC3
Duplication
(intron variant)
Autosomal recessive nonsyndromic hearing loss 15
+1 more
GBenign/Likely benign
GIPC3
(E242*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 15
GPathogenic
GIPC3
Single nucleotide variant
(stop lost)
Hearing impairment
GUncertain significance
GIPC3
(K182T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
GIPC3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
GIPC3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
GIPC3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
GIPC3
(R189C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 15
GPathogenic
GIPC3
(G46R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 15
GPathogenic
GIPC3
(G256D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 15
GPathogenic
GIPC3
(A229fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 15
GPathogenic
GIPC3
(W301*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 15
GPathogenic
GIPC3
(L262R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 15
GPathogenic
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