U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 341

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RB1
Single nucleotide variant
(intron variant)
Malignant tumor of urinary bladder
+1 more
GUncertain significance
RB1
(G15A +1 more)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
(V314I)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
(N258D)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
Single nucleotide variant
(intron variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
(P55R)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
(T687A)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
(L649V)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
(E465D)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
(R73T)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
Single nucleotide variant
(intron variant)
Retinoblastoma
+1 more
GConflicting classifications of pathogenicity
RB1
(I831M)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GUncertain significance
RB1
(P3L)
Single nucleotide variant
(missense variant)
Retinoblastoma
+1 more
GUncertain significance
ERBB2
(S377F +13 more)
Single nucleotide variant
(missense variant +2 more)
Malignant tumor of urinary bladder
GPathogenic
ERBB2
(G223R +7 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
GPathogenic
ERBB3
(M60I)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GPathogenic
ATM
(W1710*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
CDKN1A
(R48* +2 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ATM
(Q561*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
PTEN
Single nucleotide variant
(intron variant)
Malignant tumor of urinary bladder
GUncertain significance
TSC1
(A135fs +2 more)
Deletion
(frameshift variant +2 more)
Malignant tumor of urinary bladder
GUncertain significance
EGFR, EGFR-AS1
(A496T +3 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
GPathogenic
EGFR
(P329S +3 more)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GPathogenic
CDKN1A
Indel
(nonsense)
Malignant tumor of urinary bladder
GUncertain significance
FGFR3
(G585S +4 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
GPathogenic
FGFR3
(G525E +3 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(M1036fs)
Duplication
(frameshift variant)
Malignant tumor of urinary bladder
GUncertain significance
FGFR3
(R399H +1 more)
Single nucleotide variant
(missense variant +2 more)
Malignant tumor of urinary bladder
GPathogenic
PIK3CA
(M1040I)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(W1756* +1 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(W1469* +1 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q1414* +1 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q1479*)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q1420*)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q1358*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
RB1
(T5fs)
Deletion
(frameshift variant)
Retinoblastoma
GPathogenic
ARID1A
(Q895*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q775*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q758*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q670*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q529*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q404*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(W1831* +1 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
TSC1
(C146fs +2 more)
Deletion
(frameshift variant +2 more)
Malignant tumor of urinary bladder
GUncertain significance
EGFR
(T587I +3 more)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GPathogenic
EGFR
(G331R +3 more)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q1639* +1 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
KDM6A
(Q1133* +7 more)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of urinary bladder
GPathogenic
KDM6A
(W1087* +7 more)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of urinary bladder
GPathogenic
KDM6A
(Q435*)
Single nucleotide variant
(intron variant +1 more)
Malignant tumor of urinary bladder
GPathogenic
KDM6A
(Q410*)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of urinary bladder
GPathogenic
ERCC2
(Q543*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ARID1A
(Q878*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
BRCA2
Single nucleotide variant
(intron variant)
Malignant tumor of urinary bladder
GPathogenic
ERCC2
(Q243* +1 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ERBB3
(E928K)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GPathogenic
ERBB3
(R103C)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
GPathogenic
ATM, C11orf65
(W2769*)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of urinary bladder
GPathogenic
ATM, C11orf65
(W2300*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
GLikely pathogenic
ATM
(W1710*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q1458*)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q1330*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q812*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q605*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ARID1A
(Q171*)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
KDM6A
(Q315* +7 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Malignant tumor of urinary bladder
GPathogenic
KDM6A
(Q195* +4 more)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of urinary bladder
GPathogenic
KDM6A
(Q329* +1 more)
Single nucleotide variant
(nonsense +1 more)
Malignant tumor of urinary bladder
GPathogenic
ERCC2
(Q123* +1 more)
Single nucleotide variant
(nonsense)
Malignant tumor of urinary bladder
GPathogenic
ERBB2
(V493M +19 more)
Single nucleotide variant
(missense variant +2 more)
Malignant tumor of urinary bladder
GPathogenic
ERBB2
(V421M +13 more)
Single nucleotide variant
(missense variant +2 more)
Malignant tumor of urinary bladder
GPathogenic
NF1
(W425*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
BRCA2
(Q1222* +4 more)
Single nucleotide variant
(nonsense)
Hereditary breast ovarian cancer syndrome
GLikely benign
ATM, C11orf65
(W3052*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
GUncertain significance
ATM
(W1058*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia syndrome
GPathogenic
NF1
(Q1218*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CTNNA3
(K856fs)
Deletion
(frameshift variant)
Malignant tumor of urinary bladder
GLikely pathogenic
FGFR3
(P461L +3 more)
Single nucleotide variant
(missense variant +1 more)
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
+14 more
GUncertain significance
RB1
(A658fs)
Duplication
(frameshift variant)
Malignant tumor of urinary bladder
GPathogenic
RB1
Deletion
(splice acceptor variant +1 more)
Malignant tumor of urinary bladder
GLikely pathogenic
RB1
Single nucleotide variant
(splice acceptor variant)
Malignant tumor of urinary bladder
GLikely pathogenic
FGFR3
(P62S)
Single nucleotide variant
(missense variant +1 more)
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
+14 more
GUncertain significance
FGFR3
Single nucleotide variant
(intron variant)
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
+14 more
GBenign/Likely benign
FGFR3
(K537R +3 more)
Single nucleotide variant
(missense variant +1 more)
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
+14 more
GUncertain significance
FGFR3
Single nucleotide variant
(synonymous variant +1 more)
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
+15 more
GConflicting classifications of pathogenicity
FGFR3
(V311L +3 more)
Single nucleotide variant
(missense variant +1 more)
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
+15 more
GUncertain significance
EGFR, EGFR-AS1
(V757I +3 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
EGFR-related lung cancer
GUncertain significance
RB1
(W78*)
Single nucleotide variant
(nonsense)
Retinoblastoma
GPathogenic
RB1
(I297L)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
+2 more
GUncertain significance
C11orf65, ATM
(Q2399*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
GPathogenic
RB1
(M916L)
Single nucleotide variant
(missense variant)
Malignant tumor of urinary bladder
+1 more
GUncertain significance
EGFR
(G810S +3 more)
Single nucleotide variant
(missense variant)
EGFR-related lung cancer
GUncertain significance
ATM, C11orf65
(Q2896*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
GPathogenic
ATM
(Q1906*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
NF1
(Q1702* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
FGFR3
(D404G +3 more)
Single nucleotide variant
(missense variant +1 more)
Thanatophoric dysplasia type 1
+14 more
GUncertain significance
FGFR3
(L419F +1 more)
Single nucleotide variant
(missense variant +2 more)
Thanatophoric dysplasia type 1
+14 more
GUncertain significance
LOC110806263, TERT
Single nucleotide variant
not provided
+1 more
GLikely pathogenic
TSC1
(Q222* +2 more)
Single nucleotide variant
(nonsense)
Tuberous sclerosis 1
GPathogenic
NF1
(W561*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
Format
Items per page
Sort by
Choose Destination