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Links from MedGen

Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH1G
(D29fs)
Duplication
(5 prime UTR variant +1 more)
Usher syndrome type 1G
GPathogenic
USH1G
(A442fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1G
GPathogenic
USH1G
(A8P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 1G
GUncertain significance
USH1G
(R135fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1G
GPathogenic
USH1G
(K130fs +1 more)
Duplication
(frameshift variant)
Usher syndrome type 1G
GPathogenic
USH1G
(W64*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1G
+1 more
GPathogenic/Likely pathogenic
USH1G
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH1G
(T184A +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
+1 more
GUncertain significance
USH1G
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 1G
+1 more
GConflicting classifications of pathogenicity
USH1G
Single nucleotide variant
(synonymous variant)
Usher syndrome type 1G
+1 more
GConflicting classifications of pathogenicity
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
+1 more
GConflicting classifications of pathogenicity
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GLikely benign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GBenign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
(E39Q +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
+1 more
GUncertain significance
USH1G
(L278S +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GLikely benign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GBenign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GLikely benign
USH1G
(L233fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH1G
(D353N +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
+1 more
GUncertain significance
USH1G
(G109A +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
+1 more
GUncertain significance
USH1G
(K112fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1G
GUncertain significance
USH1G
(D354Y +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
GPathogenic
USH1G
(E171* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1G
GPathogenic
USH1G
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
USH1G
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
(R115H +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(synonymous variant)
Usher syndrome type 1G
GUncertain significance
USH1G
(R146C +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
+1 more
GUncertain significance
USH1G
(H158Q +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
GUncertain significance
USH1G
(R160G +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
+1 more
GUncertain significance
USH1G
(R188L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
USH1G
Single nucleotide variant
(synonymous variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
+1 more
GConflicting classifications of pathogenicity
USH1G
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GLikely benign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GLikely benign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GLikely benign
USH1G
Single nucleotide variant
(no sequence alteration)
Usher syndrome type 1G
GLikely benign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GLikely benign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GLikely benign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GLikely benign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GBenign
USH1G
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1G
GUncertain significance
LOC130061627, USH1G
(K335fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
USH1G
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
USH1G
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1G
+1 more
GUncertain significance
USH1G
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
USH1G
(D279E +1 more)
Single nucleotide variant
(missense variant)
USH1G-related disorder
+3 more
GConflicting classifications of pathogenicity
PCDH15
(E110fs +2 more)
Duplication
(frameshift variant)
Usher syndrome type 1G
Gnot provided
USH1G
(P28L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
USH1G
(R189Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
USH1G
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
USH1G
(E142K +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
USH1G
(K130E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
USH1G
(D458V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
USH1G
(L420V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
USH1G
Deletion
(splice donor variant)
Usher syndrome type 1G
GPathogenic
PCDH15
(R245* +3 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+5 more
GPathogenic
USH1G
(W38*)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
USH1G
(V29fs +1 more)
Duplication
(frameshift variant)
Usher syndrome type 1G
GPathogenic
USH1G
(S175fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1G
GPathogenic
USH1G
(I63fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1G
GPathogenic
USH1G
(L48P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 1G
GPathogenic
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