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Links from MedGen

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCHS1
(V1056M)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(P2616T)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(S46G)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(H3210L)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(R453Q)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
Van Maldergem syndrome 1
GLikely pathogenic
DCHS1
(A2550E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DCHS1
(S1596L)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(P393S)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
+1 more
GUncertain significance
DCHS1
(R132Q)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(H1851R)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(R1951S)
Single nucleotide variant
(missense variant)
Mitral valve prolapse, myxomatous 2
+1 more
GUncertain significance
DCHS1
(Q55*)
Single nucleotide variant
(nonsense)
Van Maldergem syndrome 1
GPathogenic
DCHS1
(G3145D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DCHS1
(L1488P)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(R834*)
Single nucleotide variant
(nonsense)
Van Maldergem syndrome 1
GLikely pathogenic
DCHS1
(Q2200P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DCHS1
(A2817P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DCHS1
(F655fs)
Deletion
(frameshift variant)
Van Maldergem syndrome 1
GPathogenic
DCHS1
(F685L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(L742*)
Single nucleotide variant
(nonsense)
Van Maldergem syndrome 1
GPathogenic
DCHS1
(R2768C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DCHS1
(V290L)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(Q2319P)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(P197L)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
+1 more
GConflicting classifications of pathogenicity
DCHS1
(R1912H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DCHS1
(R1991H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DCHS1
Single nucleotide variant
(intron variant)
Mitral valve prolapse, myxomatous 2
+2 more
GBenign/Likely benign
FAT4
(I3079V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DCHS1
(S1941G)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(R235Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DCHS1
(Q794H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DCHS1
(T900M)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
+1 more
GConflicting classifications of pathogenicity
DCHS1
(E1358K)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
+2 more
GConflicting classifications of pathogenicity
DCHS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
DCHS1
(T1949M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
DCHS1
Single nucleotide variant
(synonymous variant)
Van Maldergem syndrome 1
+2 more
GBenign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
DCHS1
Single nucleotide variant
(intron variant)
Van Maldergem syndrome 1
+2 more
GBenign
DCHS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
DCHS1
(W1053S)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
+2 more
GLikely benign
DCHS1
(G1372S)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GLikely benign
DCHS1
(N2370I)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GPathogenic
DCHS1
(T848fs)
Deletion
(frameshift variant)
Van Maldergem syndrome 1
GPathogenic
DCHS1
(G835*)
Single nucleotide variant
(nonsense)
Van Maldergem syndrome 1
GPathogenic
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