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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRHL2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
GRHL2
Single nucleotide variant
(5 prime UTR variant)
Corneal dystrophy, posterior polymorphous, 4
+3 more
GBenign
GRHL2
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
GRHL2
(R183Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
GRHL2
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant nonsyndromic hearing loss 28
GPathogenic
GRHL2
(V575M +1 more)
Single nucleotide variant
(missense variant)
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
+5 more
GUncertain significance
GRHL2
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
GRHL2, LOC126860461
(R521fs +1 more)
Duplication
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 28
GPathogenic
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