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Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+224 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
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
CCDC141, CERKL
+104 more
Copy number loss
See cases
GPathogenic
CWC22, EPCART
+8 more
Copy number gain
See cases
GLikely benign
CWC22
(E860G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(E835K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(R870G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(G822R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(R806G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(H795R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(H795Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(R782S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(H775R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(S757N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CWC22
(S772A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(D700V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CWC22
(T698A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(I693V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(E729K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(T725A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(E659D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(E659G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(E654A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(S646C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(S644C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(I613T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(P576S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(K557R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(G595R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(M594V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(I568V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(L560F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(E504A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(E480A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R416H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R415H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(E432A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(A378T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(Q376R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
Duplication
(splice donor variant)
not provided
GBenign
CWC22
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CWC22
(R302W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(M339I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(K289R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(I322T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R318H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(L237F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(M236I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(I223T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R246Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R205G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(K235R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CWC22
(W118R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R128P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(T127I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(D123A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(K118R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(T74A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CWC22
(Q110L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(S107T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R48W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R85Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R85W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(T42M +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CWC22
(E74G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R73Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CWC22
(R19H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CWC22
(R41Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(P40L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(P40R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(Y33C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(R17T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(H14D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CWC22
(Q7P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AGPS, ATF2
+38 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
PJVK, RBM45
+60 more
Copy number loss
3-4 finger osseus syndactyly
+1 more
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
ABCB11, AGPS
+97 more
Copy number loss
2q24 microdeletion syndrome
GPathogenic
UBE2E3, CERKL
+8 more
Copy number gain
not provided
GUncertain significance
CWC22, MIR1258
+1 more
Copy number gain
not provided
GUncertain significance
AGPS, ANKAR
+86 more
Copy number loss
not provided
GPathogenic
CASP8, CAVIN2
+233 more
Copy number gain
not provided
GPathogenic
CWC22, MIR1258
+1 more
Copy number loss
not provided
GUncertain significance
ABCB11, AGPS
+125 more
Copy number loss
not provided
GPathogenic
AGPS, ATF2
+56 more
Copy number loss
not provided
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
AGPS, ANKAR
+62 more
Copy number loss
See cases
GPathogenic
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