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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD66, C6orf201
+2580 more
Copy number gain
See cases
GPathogenic
B3GALT4, COL11A2
+26 more
Duplication
Intellectual disability, autosomal dominant 5
GUncertain significance
PHF1
(R9G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(L31F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(V98M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(R103W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(R111H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(Y188H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PHF1
(R205W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(G239R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(T281I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(P338L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(R363C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(P371L)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GUncertain significance
PHF1
(S391L)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GUncertain significance
PHF1
(R394C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(R394Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PHF1
(P419T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CUTA, PHF1
+1 more
Copy number gain
See cases
GUncertain significance
PHF1
(R457Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
PHF1
(R519G)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
GUncertain significance
ANKS1A, FKBP5
+94 more
Duplication
not provided
GUncertain significance
KIFC1, LEMD2
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
B3GALT4, BAK1
+23 more
Copy number gain
not specified
GUncertain significance
KIFC1, BAK1
+5 more
Duplication
Intellectual disability, autosomal dominant 5
GUncertain significance
B3GALT4, COL11A2
+17 more
Duplication
Intellectual disability, autosomal dominant 5
GUncertain significance
ABHD16A, AGER
+117 more
Copy number gain
not provided
GLikely pathogenic
LRRC1, LRRC73
+427 more
Copy number gain
not provided
GPathogenic
TAAR8, TAAR9
+1028 more
Copy number gain
See cases
GPathogenic
VPS52, VTA1
+1028 more
Copy number gain
See cases
GPathogenic
KIFC1, CUTA
+8 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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