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Links from Gene

Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZMYM6
Single nucleotide variant
(intron variant)
ZMYM6-related disorder
GLikely benign
ZMYM6
(K277Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(R1157C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(I88V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(D670E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(P379L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(Q38R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(G247A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(N29S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(R280T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(K223E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(T186I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(C771Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(A726T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(M632T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(Q61H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(D598E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(R510L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
Deletion
(intron variant)
ZMYM6-related disorder
GBenign
ZMYM6
(E1233K)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GBenign
ZMYM6
Single nucleotide variant
(synonymous variant)
ZMYM6-related disorder
GBenign
ZMYM6
Single nucleotide variant
(intron variant)
ZMYM6-related disorder
GBenign
ZMYM6
Single nucleotide variant
(synonymous variant)
ZMYM6-related disorder
GLikely benign
ZMYM6
Deletion
(intron variant)
ZMYM6-related disorder
GLikely benign
ZMYM6
(L1022S)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GLikely benign
ZMYM6
Single nucleotide variant
(3 prime UTR variant)
ZMYM6-related disorder
GBenign
ZMYM6
Single nucleotide variant
(synonymous variant)
ZMYM6-related disorder
GLikely benign
ZMYM6
(N971T)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GLikely benign
ZMYM6
(R737T)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GBenign
ZMYM6
(K660R)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GLikely benign
ZMYM6
(R936C)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GBenign
ZMYM6
(D28H)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GLikely benign
ZMYM6
Single nucleotide variant
(intron variant)
ZMYM6-related disorder
GBenign
ZMYM6
(N364T)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GBenign
ZMYM6
(I23V)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GBenign
ZMYM6
Single nucleotide variant
(synonymous variant)
ZMYM6-related disorder
GLikely benign
ZMYM6
Single nucleotide variant
(synonymous variant)
ZMYM6-related disorder
GBenign
ZMYM6
(F1011C)
Single nucleotide variant
(missense variant)
ZMYM6-related disorder
GBenign
ZMYM6
Single nucleotide variant
(intron variant)
ZMYM6-related disorder
GLikely benign
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
ZMYM6
(M546I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(R402H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(A283G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(V426I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(K429R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(S630N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZMYM6
(M1165V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(R402C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(C813R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(P127A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(G403V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(G403C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(C216R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(P675A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(R510Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(M1272V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(E509Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(H213R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(S77N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZMYM6
(A72V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(L275P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(T1133I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(H213Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(I301M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(A1305V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(A85V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(L215I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(R155C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(R1209H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(K1096R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(E570Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(H107R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(L685F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(V350A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(T439R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(L685I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(Q714E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(F1198V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMYM6
(Y1282C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADPRS, AGO1
+32 more
Copy number loss
not provided
GPathogenic
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
DLGAP3, KIAA0319L
+6 more
Copy number loss
not provided
GUncertain significance
ZMYM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZMYM6
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZMYM6
Single nucleotide variant
(intron variant)
not provided
GBenign
DLGAP3, GJA4
+13 more
Copy number gain
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
YARS1, ZBTB8A
+41 more
Copy number loss
not provided
GPathogenic
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ADPRS, AGO1
+31 more
Copy number loss
See cases
GPathogenic
LINC02811, LITATS1
+1147 more
Copy number gain
See cases
GPathogenic
AGO1, AGO3
+70 more
Copy number loss
See cases
GLikely pathogenic
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