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Links from MedGen

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSF4, LOC125177334
(P14T)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
(intron variant)
Cataract 5 multiple types
GLikely benign
HSF4
(R138Q)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Deletion
(intron variant)
Cataract 5 multiple types
GLikely benign
HSF4
(G279R +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4, LOC125177334
(E11D)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(P492L +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
(splice acceptor variant)
Cataract 5 multiple types
GPathogenic
B3GNT9, BEAN1
+25 more
Deletion
not provided
GPathogenic
HSF4
(K23N)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GPathogenic
HSF4
(R73C)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(P492R +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
(intron variant)
Cataract 5 multiple types
GLikely benign
HSF4
(R118P)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(Q190*)
Single nucleotide variant
(nonsense)
Cataract 5 multiple types
GPathogenic
HSF4
(R108S)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(G300V)
Single nucleotide variant
(missense variant +1 more)
Cataract 5 multiple types
GUncertain significance
HSF4
(H65Q)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(I86T)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(S358fs +1 more)
Duplication
(frameshift variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(P314S +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(G399D +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(W131*)
Single nucleotide variant
(nonsense)
Cataract 5 multiple types
GPathogenic
HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
+1 more
GBenign/Likely benign
HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
GLikely benign
HSF4
Single nucleotide variant
(intron variant)
Cataract 5 multiple types
GLikely benign
HSF4
(V84L)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(N67D)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(T408A +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
(3 prime UTR variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(H35R)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HSF4, LOC125177334
Single nucleotide variant
(5 prime UTR variant)
Cataract 5 multiple types
GBenign
HSF4
Single nucleotide variant
(3 prime UTR variant)
Cataract 5 multiple types
GBenign
HSF4
(P492H +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GBenign
HSF4
(P409S +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GBenign
HSF4, LOC125177334
Single nucleotide variant
(5 prime UTR variant)
Cataract 5 multiple types
GUncertain significance
HSF4, LOC125177334
Single nucleotide variant
(5 prime UTR variant)
Cataract 5 multiple types
GUncertain significance
FBXL8, HSF4
Single nucleotide variant
(5 prime UTR variant +1 more)
Cataract 5 multiple types
GLikely benign
HSF4
(A331T +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GBenign
HSF4
Single nucleotide variant
(intron variant)
Cataract 5 multiple types
GLikely benign
HSF4
(T227N)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
+2 more
GConflicting classifications of pathogenicity
FBXL8, HSF4
(A295S)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GBenign
FBXL8, HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
GUncertain significance
FBXL8, HSF4
(A261P)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
HSF4
(E134V)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(R116H)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GBenign
FBXL8, HSF4
(E240D)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
+1 more
GUncertain significance
HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
GLikely benign
HSF4
(I472V +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
+1 more
GBenign
HSF4, LOC130059183
Single nucleotide variant
(splice acceptor variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(L309V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
HSF4
(R118W)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GLikely pathogenic
HSF4
Single nucleotide variant
(intron variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(G148R)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(P323fs +1 more)
Duplication
(frameshift variant)
Cataract 5 multiple types
GPathogenic
HSF4
Duplication
(inframe_insertion)
HSF4-related condition
+1 more
GUncertain significance
HSF4, LOC125177334
(E3G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSF4
(D30fs)
Deletion
(frameshift variant)
Cataract 5 multiple types
GPathogenic
HSF4
(V117G)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
(splice acceptor variant)
Cataract 5 multiple types
GLikely pathogenic
HSF4
Single nucleotide variant
(3 prime UTR variant)
Cataract 5 multiple types
+1 more
GBenign/Likely benign
HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
GBenign/Likely benign
HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
GBenign
HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
GLikely benign
HSF4
(L346P +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GLikely benign
HSF4
(P329T +1 more)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
HSF4
(R252K)
Single nucleotide variant
(synonymous variant +1 more)
Cataract 5 multiple types
GUncertain significance
HSF4
(M212I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
HSF4
Single nucleotide variant
(intron variant)
Cataract 5 multiple types
GBenign
HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
GUncertain significance
HSF4
Single nucleotide variant
(intron variant)
Cataract 5 multiple types
+1 more
GBenign/Likely benign
HSF4
(R175G)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GLikely benign
HSF4
(R132C)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GLikely benign
HSF4
(E87K)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
+1 more
GConflicting classifications of pathogenicity
HSF4
(M68T)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
+1 more
GUncertain significance
HSF4, LOC125177334
(E11G)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
LOC125177334, HSF4
Single nucleotide variant
(5 prime UTR variant)
Cataract 5 multiple types
GBenign
HSF4, LOC125177334
Single nucleotide variant
(5 prime UTR variant)
Cataract 5 multiple types
GUncertain significance
HSF4, LOC125177334
Single nucleotide variant
(5 prime UTR variant)
Cataract 5 multiple types
GUncertain significance
HSF4, LOC125177334
Single nucleotide variant
(5 prime UTR variant)
Cataract 5 multiple types
GUncertain significance
HSF4, LOC125177334
Single nucleotide variant
(5 prime UTR variant)
Cataract 5 multiple types
GBenign
HSF4
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GLikely benign
HSF4
Single nucleotide variant
(5 prime UTR variant)
Cataract 5 multiple types
GUncertain significance
FBXL8, HSF4
Single nucleotide variant
(5 prime UTR variant +1 more)
Cataract 5 multiple types
GUncertain significance
FBXL8, HSF4
(E364K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cataract 5 multiple types
GBenign
FBXL8, HSF4
(D345H)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GBenign
FBXL8, HSF4
(Y299C)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GUncertain significance
FBXL8, HSF4
(V275I)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GBenign
FBXL8, HSF4
(E259Q)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GBenign
FBXL8, HSF4
Single nucleotide variant
(synonymous variant)
Cataract 5 multiple types
GBenign
HSF4
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
HSF4
(I86V)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GPathogenic
HSF4
(A19D)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GPathogenic
HSF4
(R119C)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GPathogenic
HSF4
(L114P)
Single nucleotide variant
(missense variant)
Cataract 5 multiple types
GPathogenic
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