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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZKSCAN7-AS1, ZNF660
+1 more
(Q33H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(V43L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(R70Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(E110Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(R123W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(R145Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(T157A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(I165V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(I165T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(Q179H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(H180Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(C195R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(G214R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(P217A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(D221A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(E222K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(F227L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(R241C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(R241H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(N260K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(I290M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZKSCAN7-AS1, ZNF660
+1 more
(E329A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDCP1, CLEC3B
+12 more
Copy number gain
not provided
GUncertain significance
CDCP1, CLEC3B
+16 more
Copy number loss
not provided
GUncertain significance
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
HHATL, ZKSCAN7
+29 more
Copy number loss
See cases
GPathogenic
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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