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Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+237 more
Copy number loss
See cases
GPathogenic
ABHD8, AKAP8
+574 more
Copy number gain
See cases
GPathogenic
NWD1
(P6T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(R8K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(Q20R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(R36W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(H43R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(L77Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(R81W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(E86A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(A96S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(Q109L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(E112K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(P117S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(V120I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NWD1
(E128fs)
Duplication
(frameshift variant +1 more)
not provided
GLikely benign
NWD1
(L141P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(R149W)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NWD1
(R149Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(R150M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(S39N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(S177N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(R181W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
NWD1
(Q183L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NWD1
(V52I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(H61Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NWD1
(R210W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(A77T +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NWD1
(D114N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(A124T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(C260Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(A67T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R280C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(A86G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R93H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R115W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(Q118K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NWD1
(P197A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(T205I +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NWD1
(R314Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R450S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(P324S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(L466P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(P359A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(G497R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(T379M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R329Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(A539V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(F334I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R338W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R544G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(T357M +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NWD1
(V444M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(V376M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(G386R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(P421Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R509W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(V647A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(V528M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R667H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NWD1
(K488R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(P579L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(T516M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(V588F +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NWD1
(R606H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R582C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(A707T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(P856L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(A656T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(T728P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(A667D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(I679V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NWD1
(H774Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NWD1
(A751V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(S844L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(N776D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(M798I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(Q832R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(M1040T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(T1047I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(V917I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(Q851K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(G857R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(G1067S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NWD1
(A966T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(A977V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(T927M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(T1003I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(V1035I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(G965R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(V1174M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(S969T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R1179C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NWD1
(R1044H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Display optionsSort by LocationDownload
Format
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