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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
LOC125387319, LOC125387320
+1024 more
Copy number gain
See cases
GPathogenic
ADNP, ADNP-AS1
+124 more
Copy number loss
See cases
GPathogenic
ADNP, ADNP-AS1
+199 more
Copy number gain
See cases
GPathogenic
ADNP, ADNP-AS1
+102 more
Copy number loss
See cases
GLikely pathogenic
PTPN1
(Q5R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPN1
Single nucleotide variant
(synonymous variant)
PTPN1-related condition
+1 more
GBenign
PTPN1
(T92I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPN1
(V138I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PTPN1
(R165K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPN1
(P229L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PTPN1
(P280R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPN1
(S378N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PTPN1
Single nucleotide variant
(synonymous variant)
PTPN1-related condition
+1 more
GBenign
PTPN1
Duplication
(3 prime UTR variant)
Insulin resistance, susceptibility to
Grisk factor
PTPN1, PARD6B
+2 more
Copy number gain
not provided
GLikely benign
ADNP, ARFGEF2
+27 more
Duplication
not provided
GUncertain significance
ADNP, ARFGEF2
+28 more
Copy number loss
See cases
GPathogenic
KIF3B, KIZ
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ADNP, ATP9A
+24 more
Copy number loss
See cases
GLikely pathogenic
KCNG1, SPATA2
+22 more
Copy number loss
See cases
GLikely pathogenic
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