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Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LHFPL5
(R176L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(S116R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 67
GPathogenic
LHFPL5
(R158fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 67
GPathogenic
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GLikely benign
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(E217G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(R176H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(M28L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(I112T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LHFPL5
(I109M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(G151V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
+1 more
GPathogenic/Likely pathogenic
LHFPL5
(M1V)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 67
GLikely pathogenic
LHFPL5
(L192P)
Single nucleotide variant
(missense variant)
Autosomal recessive non-syndromic intellectual disability
+1 more
GPathogenic
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GBenign
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GBenign
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GLikely benign
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GBenign
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GLikely benign
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GBenign
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GBenign
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(T169M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LHFPL5
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(V69A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(P47H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LHFPL5
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LHFPL5
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5, LOC129996260
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5, LOC129996260
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5, LOC129996260
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 67
GUncertain significance
LHFPL5
(H15Y)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LHFPL5
(T165M)
Single nucleotide variant
(missense variant)
LHFPL5-related condition
GUncertain significance
LHFPL5
Deletion
(splice donor variant)
Ear malformation
GLikely pathogenic
LHFPL5
(Y127C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 67
GPathogenic
LHFPL5
Deletion
(nonsense)
Autosomal recessive nonsyndromic hearing loss 67
GPathogenic
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