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Links from MedGen

Items: 1 to 100 of 358

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATR
(P868T +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
GUncertain significance
ATR
(S1629N +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
Single nucleotide variant
(intron variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+2 more
GBenign/Likely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GLikely benign
ATR, LOC129937703
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Seckel syndrome 1
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Seckel syndrome 1
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant +1 more)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
(H1999R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(C1983R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(P2433S +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(Y592H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(W1132G +1 more)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
(I710M +1 more)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR, LOC129937703
(M11V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(E1245K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(L130F)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
Single nucleotide variant
(synonymous variant)
Seckel syndrome 1
+3 more
GLikely benign
ATR
(W594R +1 more)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
(I1050V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(E1483K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(H4Y)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(M197T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(D47H)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
(N1092S +1 more)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
(G720S +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(P315A)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(M283L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(D2594H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(H723R +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(R224K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(Q2050R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(V1386I +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(S1619P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(N2496S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(I1255V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(I216T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(N1153S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(V2148A +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(H830R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(D737E +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(D1345E +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(E496Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(A1195V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(M1111T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(E323Q)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
(D381V)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
(E1370A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(N1847K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(R1887Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(A389T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(D604H +1 more)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
(C831Y +1 more)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
(D1243Y +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(A659T +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(M456I)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ATR
(G1001R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
ATR
(I41V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATR
(D1123Y +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(D626G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(L37M)
Single nucleotide variant
(missense variant)
Seckel syndrome 1
+3 more
GUncertain significance
ATR
(L1289I +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(C2262R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ATR
(S1451N +1 more)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(L420V)
Single nucleotide variant
(missense variant)
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
+3 more
GUncertain significance
ATR
(A1953T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
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