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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+388 more
Copy number loss
See cases
GPathogenic
HSPA14, LOC130003414
+1 more
(V17L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
HSPA14, MSANTD7
(A30T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RPP38-DT, SUV39H2
+23 more
Copy number gain
See cases
GPathogenic
HSPA14
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HSPA14
(P78T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(I84M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(A85T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HSPA14
(L90S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(R99Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(S134L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(A136G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(Q151K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(P187A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(G199R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(M208T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(T220A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(T325I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14
(D327V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(I348T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(I373T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(A375S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(I379T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(L385F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HSPA14, SUV39H2-DT
(E393Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(V404L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(R425Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(R426S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(T456A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(E496D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSPA14, SUV39H2-DT
(I505V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABI1, ACBD5
+111 more
Copy number gain
not specified
GPathogenic
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
ACBD7, BEND7
+36 more
Copy number loss
Neurodevelopmental delay
GPathogenic
SUV39H2, HSPA14
+3 more
Copy number gain
not provided
GUncertain significance
ACBD7, ADARB2
+68 more
Copy number gain
not provided
GPathogenic
WDR37, ZMYND11
+68 more
Copy number gain
not provided
GPathogenic
ITIH2, ITIH5
+72 more
Deletion
Hypoparathyroidism, deafness, renal disease syndrome
GPathogenic
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
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