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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2D, LOC126861520
Single nucleotide variant
(intron variant)
Kabuki syndrome
+1 more
GBenign/Likely benign
KMT2D, LOC126861520
(E1337*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC126861520, KMT2D
Single nucleotide variant
(intron variant)
Kabuki syndrome
+1 more
GConflicting classifications of pathogenicity
KMT2D, LOC126861520
(R1297C)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+3 more
GConflicting classifications of pathogenicity
KMT2D, LOC126861520
(I1279fs)
Deletion
(frameshift variant)
not provided
GPathogenic
KMT2D, LOC126861520
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC126861520, KMT2D
(R1252*)
Single nucleotide variant
(nonsense)
Kabuki syndrome
+2 more
GPathogenic
KMT2D, LOC126861520
(G1214D)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+1 more
GConflicting classifications of pathogenicity
KMT2D, LOC126861520
(T1195fs)
Duplication
(frameshift variant)
not provided
GPathogenic
KMT2D, LOC126861520
(P1191L)
Single nucleotide variant
(missense variant)
KMT2D-related condition
+4 more
GBenign/Likely benign
LOC126861520, KMT2D
(C1182W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KMT2D, LOC126861520
(Q1178*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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