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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTE1P, ANO1
+184 more
Copy number loss
See cases
GLikely pathogenic
ANO1
(K47R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANO1
(S49W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO1
(R15C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANO1
(L31V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANO1
(G58S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(R100W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(R77W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
ANO1
(R93L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(A106V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(S107L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(R127L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(R144P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(D186E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(E146K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(I191V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ANO1
(E170K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ANO1
(I184V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(T224M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ANO1
(A245V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANO1
(G312S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Microsatellite
(splice donor variant)
not provided
GUncertain significance
ANO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ANO1
(E326Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(V342A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(F324S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(M404I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(R366H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(A367T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(A408T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(V432A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(V436I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO1
(E392* +3 more)
Single nucleotide variant
(nonsense +1 more)
ANO1-related fatal neonatal disease due to impaired chloride currents
GLikely pathogenic
ANO1
(H426N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ANO1
(R404H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(E411K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO1
(R473C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(H475R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(V488F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(intron variant)
not provided
GBenign
ANO1
(T443N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(V592M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(G599S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ANO1
(V556M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ANO1
(A509V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(G554D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(T539M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ANO1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ANO1
(R644H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(M658V +4 more)
Single nucleotide variant
(missense variant +1 more)
Moyamoya disease 7
GPathogenic
ANO1
(L678V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(K664Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(P764A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ANO1
(R775Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(T740I +4 more)
Single nucleotide variant
(missense variant +1 more)
Moyamoya disease 7
GPathogenic
ANO1
(L718P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(V776I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(I753V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(I734V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ANO1
(G846S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(N913S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(D851V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(E932A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(S843L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(K913R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(D888V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(E928D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(T1010A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ANO1
(E898K +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
(P1022L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
ANO1, CTTN
+5 more
Copy number gain
not provided
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ANO1, CCND1
+8 more
Copy number loss
not provided
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ANO1, CTTN
+3 more
Copy number gain
not provided
GUncertain significance
ANO1, C11orf24
+24 more
Copy number loss
See cases
GLikely pathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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