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Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+294 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+279 more
Copy number loss
See cases
GPathogenic
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(N214H)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(G203A)
Single nucleotide variant
(missense variant)
HAND1-related disorder
+1 more
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(T202A)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(K196R)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(V194A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(G192S)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(P189L)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(P189S)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(P188A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAND1
(H184R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAND1
(H184L)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(intron variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(intron variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(intron variant)
not provided
GBenign
HAND1
Single nucleotide variant
(intron variant)
not provided
GBenign
HAND1
Single nucleotide variant
(intron variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(R179W)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
HAND1-related disorder
+3 more
GBenign
HAND1
(R173L)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(G171D)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(K167R)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(L166F)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
HAND1-related disorder
+1 more
GLikely benign
HAND1
(E160G)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(D158V)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
HAND1
(K152T)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(K152E)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(S141N)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(K134*)
Single nucleotide variant
(nonsense)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(D127Y)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(P125R)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(P125L)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(V124M)
Single nucleotide variant
(missense variant)
HAND1-related disorder
+1 more
GUncertain significance
HAND1
(V124L)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(P122S)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(E119D)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(E119Q)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(E103G)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(G97C)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(R91G)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(R91S)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(E86V)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(R84G)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(G83R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAND1
(G83W)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
+2 more
GBenign/Likely benign
HAND1
(P82L)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(G79R)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(R77S)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(Y72C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(A68P)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(A66T)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(P63S)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(P61Q)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
HAND1-related disorder
+1 more
GBenign/Likely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
Single nucleotide variant
(synonymous variant)
Hypoplastic left heart syndrome
GLikely benign
HAND1
(A58E)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(A58V)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(F56L)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
Single nucleotide variant
(synonymous variant)
HAND1-related disorder
+2 more
GBenign/Likely benign
HAND1
(P54L)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(P54R)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(A53V)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(D51V)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
HAND1
(P49R)
Single nucleotide variant
(missense variant)
Hypoplastic left heart syndrome
GUncertain significance
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