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Links from Gene

Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC100128494, LOC126861257
+1 more
(K242N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R2044Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(E1813V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1809W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1794C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(L1790V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(P1771S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1748C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R1033Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(E950K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(L881M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(H778Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R752G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R681W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(S633N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(A545P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(Q541R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(G385R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(A340V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
Single nucleotide variant
(non-coding transcript variant +1 more)
NUMA1-related disorder
GLikely benign
LOC100128494, NUMA1
(G978S)
Single nucleotide variant
(non-coding transcript variant +1 more)
NUMA1-related disorder
GBenign
IL18BP, NUMA1
Single nucleotide variant
(synonymous variant +1 more)
NUMA1-related disorder
GLikely benign
LOC100128494, NUMA1
(S466R)
Single nucleotide variant
(non-coding transcript variant +1 more)
NUMA1-related disorder
GLikely benign
IL18BP, NUMA1
Single nucleotide variant
(synonymous variant +1 more)
NUMA1-related disorder
GLikely benign
IL18BP, NUMA1
Single nucleotide variant
(synonymous variant +1 more)
NUMA1-related disorder
GLikely benign
LOC100128494, NUMA1
(L344V)
Single nucleotide variant
(non-coding transcript variant +1 more)
NUMA1-related disorder
GLikely benign
LOC100128494, NUMA1
Single nucleotide variant
(non-coding transcript variant +1 more)
NUMA1-related disorder
GLikely benign
LOC100128494, NUMA1
(S502C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
LOC100128494, NUMA1
(T345S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC100128494, NUMA1
(E809D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
LOC100128494, NUMA1
(R918C)
Single nucleotide variant
(non-coding transcript variant +1 more)
NUMA1-related disorder
+1 more
GLikely benign
LOC100128494, NUMA1
(Q1035R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC100128494, LOC126861257
+1 more
(I251T)
Single nucleotide variant
(missense variant +1 more)
NUMA1-related disorder
GUncertain significance
IL18BP, NUMA1
(R1796H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1767W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R180H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(Q968R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R2067H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(A769V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1802G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R869Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(S1823T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1905C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(A594V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(P1750L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R631W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(E931Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(E644K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R495W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(E781D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(M989T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R2044W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R2072C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(A646G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R1033W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, LOC126861257
+1 more
(C299W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(T1986I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, LOC126861257
+1 more
(M290V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC100128494, NUMA1
(N1039K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(A488T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1952C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(E1977D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(S801N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(G455V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R643W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(D632N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(Q463H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(D1824E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(S476P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, LOC126861257
+1 more
(L264V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R723H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(A571V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1871C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(E1910K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(Y817H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1794H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(N342S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(A812G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R2065Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(C160W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(R983Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(Q623R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1975Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(Y1924C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(G1787S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(L785R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(A582T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(I619T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC100128494, LOC126861257
+1 more
(A269V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(D1864N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(E677Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1743C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(R1791C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(T1057M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC100128494, NUMA1
(H551R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL18BP, NUMA1
(Q1874H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC100128494, NUMA1
(N195S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC100128494, NUMA1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign/Likely benign
IL18BP, NUMA1
(R1748H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
IL18BP, NUMA1
(V1811M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
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