U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBIS
(R7I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP6V0D2, CA1
+16 more
Copy number gain
not specified
GUncertain significance
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ATP6V0D2, CA1
+53 more
Copy number loss
not provided
GPathogenic
CA1, CA13
+4 more
Copy number gain
not provided
GUncertain significance
ANKRD46, ATP6V0D2
+96 more
Copy number gain
not provided
GPathogenic
ATP6V0D2, CA1
+12 more
Duplication
not provided
GUncertain significance
CA1, CA13
+6 more
Copy number loss
not provided
GUncertain significance
AARD, ABRA
+141 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+285 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
ATP6V0D2, CA1
+36 more
Copy number loss
not specified
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
CA1, CA13
+31 more
Copy number loss
Chromosome 8q21.11 deletion syndrome
GPathogenic
CA3, CA1
+6 more
Copy number gain
not provided
GUncertain significance
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
CA13, E2F5
+1 more
Copy number loss
not provided
GUncertain significance
ATP6V0D2, CA1
+16 more
Copy number loss
not provided
GUncertain significance
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
ATP6V0D2, CA1
+46 more
Copy number gain
See cases
GUncertain significance
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC130000591, LOC130000592
+470 more
Copy number gain
See cases
GPathogenic
CA1, CA13
+25 more
Copy number loss
See cases
GUncertain significance
LOC130000705, LOC130000706
+327 more
Copy number loss
See cases
GPathogenic
ATP6V0D2, C8orf88
+217 more
Copy number loss
See cases
GPathogenic
LOC130000646, LOC130000647
+191 more
Copy number loss
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination