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Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
AQP2, AQP5
+43 more
Copy number gain
See cases
GUncertain significance
LOC130007872, SMARCD1
(P30L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130007872, SMARCD1
(P36L)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 11
+1 more
GUncertain significance
LOC130007872, SMARCD1
(P37L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130007872, SMARCD1
(P44S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130007872, SMARCD1
(L48V)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 11
+1 more
GUncertain significance
LOC130007872, SMARCD1
(R50G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130007872, SMARCD1
(M53T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130007872, SMARCD1
(A56G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130007872, SMARCD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMARCD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SMARCD1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SMARCD1
(S67I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMARCD1
(R68Q)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 11
GLikely benign
SMARCD1
(P85S)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 11
GUncertain significance
SMARCD1
(R100L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(Q112H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SMARCD1
(A115V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMARCD1
(N122S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
Microsatellite
(intron variant)
not provided
GBenign
SMARCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
SMARCD1
(A146T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMARCD1
(A152fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
SMARCD1
(L151fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
SMARCD1
(R165Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMARCD1
(I168T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(R174H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
SMARCD1
(I184V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(I186T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMARCD1
(T189S)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 11
+1 more
GUncertain significance
SMARCD1
(T189I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMARCD1
(R214W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
SMARCD1
(R231K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(D247G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMARCD1
(L255V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
SMARCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
SMARCD1
Deletion
(intron variant)
not specified
GLikely benign
SMARCD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMARCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
SMARCD1
(P293A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(L297S)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 11
GUncertain significance
SMARCD1
(R300S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(I323V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(D330E)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 11
GPathogenic
SMARCD1
(R334Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMARCD1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMARCD1
(R351C)
Single nucleotide variant
(missense variant)
Alopecia, androgenetic, 1
GLikely pathogenic
SMARCD1
(M352V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMARCD1
Single nucleotide variant
(splice acceptor variant)
not provided
Gnot provided
SMARCD1
(A418G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
SMARCD1
(I428V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMARCD1
(R438W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SMARCD1
(R446G)
Single nucleotide variant
(missense variant +1 more)
Coffin-Siris syndrome 11
GPathogenic
SMARCD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SMARCD1
(P432S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(R437fs +1 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 11
GPathogenic
SMARCD1
(W486* +1 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 11
GPathogenic
SMARCD1
(A446G +1 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 11
GUncertain significance
SMARCD1
(F495L +1 more)
Single nucleotide variant
(missense variant)
Coffin-Siris syndrome 11
GPathogenic
SMARCD1
(Y455H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(V458M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(R503* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
BICD1, HDAC7
+212 more
Inversion
not specified
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
SMARCD1
(R100C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMARCD1
(D298Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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