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Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
ANKAR, ASDURF
+191 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+329 more
Copy number loss
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1687 more
Copy number gain
See cases
GPathogenic
ORMDL1, PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ORMDL1, PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ORMDL1, PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ORMDL1, PMS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ORMDL1, PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PMS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PMS1
(E27Q)
Single nucleotide variant
(missense variant +2 more)
Polyp of colon
GUncertain significance
PMS1
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign
PMS1
Single nucleotide variant
(synonymous variant +3 more)
not provided
+1 more
GBenign
PMS1
(E59K)
Indel
(missense variant +3 more)
not specified
Gnot provided
PMS1
(E59K)
Single nucleotide variant
(missense variant +3 more)
PMS1-related disorder
+1 more
GBenign/Likely benign
PMS1
(T75I)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GUncertain significance
PMS1
(A96G)
Single nucleotide variant
(missense variant +3 more)
Ovarian cancer
GLikely pathogenic
PMS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PMS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PMS1
(T110R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
Gnot provided
PMS1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
PMS1
(L164fs)
Duplication
(intron variant +1 more)
not provided
GBenign
PMS1
(K163fs)
Deletion
(frameshift variant +1 more)
PMS1-related disorder
GLikely benign
PMS1
(G166S)
Single nucleotide variant
(missense variant +1 more)
PMS1-related disorder
GLikely benign
PMS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PMS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PMS1
(R86K +1 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome 1
GUncertain significance
PMS1
(C104fs +1 more)
Duplication
(frameshift variant +2 more)
not specified
Gnot provided
PMS1
(D106G +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PMS1
(I108M +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PMS1
(F129L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(H192R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
Duplication
(intron variant)
not provided
GBenign
PMS1
Copy number loss
See cases
GPathogenic
PMS1
(V135A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(R141fs +2 more)
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
PMS1
(R202K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
PMS1
(N221D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(Q165P +2 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
GBenign
PMS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PMS1
(R204* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
PMS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PMS1
(R277* +3 more)
Single nucleotide variant
(nonsense +1 more)
not specified
GUncertain significance
PMS1
(R114C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(L134V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(L329V +3 more)
Single nucleotide variant
(missense variant +1 more)
Polyp of colon
GUncertain significance
PMS1
(T334M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PMS1
(N305D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(E171K +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
PMS1
(I182V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(V183I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PMS1
(N206T +3 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
GBenign
PMS1
(I388L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(M394T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PMS1
(L231* +3 more)
Single nucleotide variant
(nonsense +1 more)
not specified
GUncertain significance
PMS1
(G414D +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal carcinoma
GUncertain significance
PMS1
(H244fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
PMS1
(S406L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(T275M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(Y414N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(D300G +3 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
GBenign
PMS1
(G479A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
(N489I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(G501R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PMS1
(S529N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PMS1
(I359V +3 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
GBenign
PMS1
(E537K +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GLikely benign
PMS1
(K548R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
PMS1
(V521L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PMS1
(V582I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PMS1
(D424N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(T426A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(R630* +3 more)
Single nucleotide variant
(nonsense +2 more)
PMS1-related breast cancer
GUncertain significance
PMS1
(N632S +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely benign
PMS1
(R475K +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
PMS1
(I686M +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
Gnot provided
PMS1
(P639L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(F662V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PMS1
(V540I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(F693S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(S740F +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
(V568I +3 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
GBenign
PMS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
PMS1
(L706V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(P768L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PMS1
(E604K +3 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
GBenign
PMS1
(Y793D +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
Gnot provided
PMS1
(Y793H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PMS1
(M633V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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