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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILDR1
(E305fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic
ILDR1
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 42
GUncertain significance
ILDR1
(R409Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 42
+1 more
GConflicting classifications of pathogenicity
ILDR1
(P69H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 42
GLikely pathogenic
ILDR1
(P345L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 42
+1 more
GUncertain significance
ILDR1
(V99fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic
ILDR1
(Q185* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic
ILDR1
(L306S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ILDR1
(P349S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 42
GUncertain significance
ILDR1
(L200W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ILDR1
(C225* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 42
+1 more
GPathogenic
ILDR1
(E215*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic
ILDR1
(T256fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 42
+1 more
GPathogenic/Likely pathogenic
ILDR1
(R462* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ILDR1
(S249fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 42
+2 more
GPathogenic/Likely pathogenic
ILDR1
(R431C +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ILDR1
(R433W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 42
+2 more
GUncertain significance
ILDR1
(Q258* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hearing impairment
+3 more
GConflicting classifications of pathogenicity
ILDR1
(P264R +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ILDR1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ILDR1
(W388R +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ILDR1
(Q195*)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic
ILDR1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 42
+1 more
GPathogenic/Likely pathogenic
ILDR1
(E379* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic
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