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Items: 1 to 100 of 347

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+276 more
Copy number loss
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
LOC132090805, MANCR
+482 more
Copy number gain
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
LOC130003153, LOC130003154
+421 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+298 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+352 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+86 more
Copy number loss
See cases
GUncertain significance
ADARB2, AKR1C1
+304 more
Copy number gain
See cases
GLikely pathogenic
LINC02645, LOC105376350
+16 more
Copy number gain
See cases
GUncertain significance
LINC02645, LOC105376350
+19 more
Copy number gain
See cases
GUncertain significance
LOC130003188, LOC130003189
+195 more
Duplication
Schizophrenia
GLikely pathogenic
PITRM1, PITRM1-AS1
+2 more
Copy number loss
Premature ovarian failure
GBenign
PITRM1
Single nucleotide variant
not provided
GBenign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(Q1029R +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(E753K +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(L586I +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(G1009S +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PITRM1
Single nucleotide variant
(intron variant)
not provided
GBenign
PITRM1
Single nucleotide variant
(intron variant)
not provided
GBenign
PITRM1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PITRM1
(D735H +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PITRM1
(V1004M +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(A732T +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(D901H +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(D1000N +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(S562T +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(S923N +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1
(V898L +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1
(Q987fs +8 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
PITRM1
(S777L +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1
(M539V +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PITRM1
(P534L +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PITRM1
(A697V +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(A760T +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1
(V528I +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(E749K +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(I854M +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(K943E +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1
(A671V +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PITRM1
(D735N +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PITRM1
(G731R +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(F500S +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(F730C +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(T931M +8 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia, autosomal recessive 30
GPathogenic
PITRM1
(N919D +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(P852L +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(Y488D +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(G469S +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PITRM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1
(L624W +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(R453H +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1
(A452V +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PITRM1
(L448F +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
PITRM1, PITRM1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PITRM1, PITRM1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PITRM1, PITRM1-AS1
(T605M +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PITRM1, PITRM1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1, PITRM1-AS1
(V438I +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
PITRM1, PITRM1-AS1
(R797Q +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1, PITRM1-AS1
(E433D +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PITRM1, PITRM1-AS1
(G793S +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1, PITRM1-AS1
(V431M +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1, PITRM1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PITRM1, PITRM1-AS1
(N766H +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1, PITRM1-AS1
(P764L +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITRM1, PITRM1-AS1
(H421N +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PITRM1, PITRM1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
PITRM1, PITRM1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
PITRM1, PITRM1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PITRM1, PITRM1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PITRM1, PITRM1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
PITRM1, PITRM1-AS1
(R379H +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
PITRM1-related disorder
GUncertain significance
PITRM1, PITRM1-AS1
(R379C +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
PITRM1, PITRM1-AS1
(V739A +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PITRM1, PITRM1-AS1
(R375W +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
PITRM1, PITRM1-AS1
(K373fs +8 more)
Deletion
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
PITRM1, PITRM1-AS1
(K373R +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
PITRM1, PITRM1-AS1
(K808R +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Irido-corneo-trabecular dysgenesis
GLikely benign
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