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Links from Gene

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH3RF2
(L454I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(A673P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(T583R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(S595F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(T459M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(G142S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(R115W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(D199N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(Q164fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
SH3RF2
(A253T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(C211F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(D204N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(K203E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(C15Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(S102T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(Q97K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(S81R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(T642N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(I60T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(A596V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(I530V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(G529R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(H394R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGAP26, DPYSL3
+19 more
Copy number loss
not specified
GPathogenic
SH3RF2
(R225Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(G262S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(T456A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SH3RF2
(R587S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(D397E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(N105T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(E612D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(S564L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(N433D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(T213I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(R48W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(R513W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(R496S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(G500D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(P50S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(V436I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(W592*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
SH3RF2
(T577M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(R450W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(G663R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(I219S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(P106S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(R419W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(D218G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(I223L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(T338N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(E590K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(V534M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SH3RF2
(I636N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LARS1, PLAC8L1
+1 more
Copy number gain
not provided
GUncertain significance
GRXCR2, LARS1
+3 more
Copy number gain
not provided
GUncertain significance
ABLIM3, ADRB2
+92 more
Copy number gain
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
SH3RF2, TCERG1
+8 more
Deletion
Neurodevelopmental disorder
GUncertain significance
HARS1, HARS2
+385 more
Deletion
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ADRB2
+48 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
ABLIM3, ADRB2
+313 more
Copy number gain
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
C5orf46, CTB-99A3.1
+82 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
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