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Links from Gene

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM107B
(E111A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM107B
(K114Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM107B
(R203Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM107B
(H165D +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
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
FAM107B
(P24S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FAM107B
(H29R +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
FAM107B
(R28W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM107B
(Q105R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM107B
(N224K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM107B
(T135M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
FAM107B
(L195P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
FAM107B
(L135V +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAM107B
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
FAM107B
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
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
OPTN, BEND7
+9 more
Copy number loss
not provided
GUncertain significance
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
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+388 more
Copy number loss
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
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