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Items: 1 to 100 of 601

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
MNDA, OR6K3
+3 more
Copy number loss
See cases
GLikely benign
OR6N1, MNDA
Deletion
Large for gestational age
Gnot provided
MNDA
(V2A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(N3K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(N3K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(Y5H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(I8V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(L9V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(L10S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(L10W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(L10F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(F14Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(D18Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(D18E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(D19N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(Y20H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(I25F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(I25V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(S27P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(L28F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(A30T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(G34E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(T36S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(T37A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(T37K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(M39V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(M39K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(Q40K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(Q40R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(E41Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(E41D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(E42K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(Y43H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(Y43C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(N44K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(R45K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MNDA
(R45S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(I48V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(I48M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(T49K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(T49I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(D50N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(D50H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(L51M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(M52V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(M52T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(E53K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(E53V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(E53G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(K55E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(K55M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(K55N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(K55N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(F56L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(Q57R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(Q57P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MNDA
(G58D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(G58V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(V59I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(V59D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MNDA
(A60S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(A60D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(C61G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MNDA
(C61F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(C61S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(D63E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(K64T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MNDA
(L65Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(I66T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(E67Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(L68F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MNDA
(L68P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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