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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HTD2, HTR1F
+482 more
Copy number loss
See cases
GPathogenic
ADAMTS9-AS2, ARL6IP5
+234 more
Copy number loss
See cases
GPathogenic
ARL6IP5, EBLN2
+142 more
Copy number loss
See cases
GPathogenic
ARL6IP5, CNTN3
+175 more
Copy number gain
See cases
GLikely pathogenic
LOC129937044, LOC129937045
+110 more
Copy number loss
See cases
GPathogenic
LOC115995512, LOC121009679
+94 more
Copy number loss
See cases
GPathogenic
EBLN2, PPP4R2
(S15R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(I37V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(H50Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(Q56R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(P57A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(S58G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(D63Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(I97V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(I100L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(A107V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(S125N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(C130Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(F131Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(F133L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(L140S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(G144D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(R160G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(A165G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(I175V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(A176G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(V182L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(R184C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(S198I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(I219V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(G250V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(K267R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(R269H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
EBLN2, PPP4R2
(S272R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARL13B, ARL6
+47 more
Copy number gain
not provided
GLikely pathogenic
CNTN3, EBLN2
+10 more
Copy number gain
not provided
GUncertain significance
ARL6IP5, CNTN3
+22 more
Copy number loss
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
RYBP, SHQ1
+13 more
Copy number loss
See cases
GPathogenic
CNTN3, EBLN2
+10 more
Copy number gain
See cases
GUncertain significance
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