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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2D
(P2662fs)
Deletion
(frameshift variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
+1 more
GPathogenic
KMT2D
(A3541P)
Single nucleotide variant
(missense variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
GLikely pathogenic
KMT2D
(G3553V)
Single nucleotide variant
(missense variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
GPathogenic
KMT2D
(L3542P)
Single nucleotide variant
(missense variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
GPathogenic
KMT2D
(L3528V)
Single nucleotide variant
(missense variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
GPathogenic
KMT2D
(E3569G)
Single nucleotide variant
(missense variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
GLikely pathogenic
KMT2D
(G4844C)
Single nucleotide variant
(missense variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
GUncertain significance
KMT2D
Single nucleotide variant
(synonymous variant)
Kabuki syndrome 1
+2 more
GLikely benign
KMT2D
(R3582Q)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+1 more
GConflicting classifications of pathogenicity
KMT2D
Deletion
(inframe_deletion)
Kabuki syndrome
+3 more
GConflicting classifications of pathogenicity
KMT2D
(G1808E)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
+2 more
GConflicting classifications of pathogenicity
KMT2D
(A2147V)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
+3 more
GConflicting classifications of pathogenicity
KMT2D
(I3532T)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+3 more
GConflicting classifications of pathogenicity
KMT2D
(R3547H)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
+1 more
GUncertain significance
KMT2D
(P470S)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
+2 more
GConflicting classifications of pathogenicity
KMT2D
(P2301L)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
+1 more
GUncertain significance
KMT2D
(R2334Q)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
+2 more
GConflicting classifications of pathogenicity
KMT2D
(R2443L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
KMT2D
(Q3950R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
KMT2D
(H5114P)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
+1 more
GConflicting classifications of pathogenicity
KMT2D
(R1756Q)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+2 more
GUncertain significance
KMT2D
(R5340*)
Single nucleotide variant
(nonsense)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
+4 more
GPathogenic
KMT2D
Single nucleotide variant
(synonymous variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
+3 more
GBenign/Likely benign
KMT2D
(L3525P)
Single nucleotide variant
(missense variant)
KMT2D-related disorder
+1 more
GLikely pathogenic
KMT2D
(I5232V)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+4 more
GConflicting classifications of pathogenicity
KMT2D
Single nucleotide variant
(intron variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
+5 more
GConflicting classifications of pathogenicity
KMT2D, LOC126861520
(R1297C)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+3 more
GConflicting classifications of pathogenicity
KMT2D
(Q836K)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
+4 more
GConflicting classifications of pathogenicity
KMT2D
(G2569S)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+4 more
GConflicting classifications of pathogenicity
KMT2D
(P692T)
Single nucleotide variant
(missense variant)
Kabuki syndrome
+4 more
GBenign/Likely benign
KMT2D
(P998T)
Single nucleotide variant
(missense variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
+5 more
GConflicting classifications of pathogenicity
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