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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC50
(D193Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 44
GUncertain significance
CCDC50
(E124D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 44
GUncertain significance
CCDC50
(R76H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 44
+1 more
GUncertain significance
CCDC50
(D276fs +1 more)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 44
GPathogenic
CCDC50
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CCDC50
(R227W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CCDC50
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CCDC50
(L67V)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 44
GUncertain significance
CCDC50
(D295Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
CCDC50
(M332T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CCDC50
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CCDC50
(K303R)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
CCDC50
(I258N)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
CCDC50
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
CCDC50
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CCDC50
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CCDC50
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CCDC50
(F292fs +1 more)
Duplication
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 44
GPathogenic
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