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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCHS1
(H3210L)
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
(A2550E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DCHS1
(I1948V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DCHS1
(V1056M)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(R1006H)
Single nucleotide variant
(missense variant)
Lymphedema
GUncertain significance
DCHS1
(R453Q)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
DCHS1
(P393S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DCHS1
(N287S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DCHS1
(N256S)
Single nucleotide variant
(missense variant)
Lymphedema
GUncertain significance
DCHS1
(S46G)
Single nucleotide variant
(missense variant)
Van Maldergem syndrome 1
GUncertain significance
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