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Links from Gene

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OSR2
(C224Y +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
OSR2
(Q409R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OSR2
(A211V +1 more)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
OSR2
(A258T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNS2, OSR2
+2 more
Deletion
Cohen syndrome
GPathogenic
OSR2, STK3
+1 more
Deletion
Cohen syndrome
GPathogenic
OSR2
(P159S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OSR2
(H110R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OSR2
(Q47E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
OSR2, STK3
+1 more
Copy number loss
not provided
GUncertain significance
ANKRD46, ATP6V0D2
+96 more
Copy number gain
not provided
GPathogenic
ANKRD46, ATP6V1C1
+40 more
Duplication
not provided
GUncertain significance
OSR2
(V105I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OSR2
(P207Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OSR2
(G226S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OSR2
(D135G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OSR2
(R203H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AARD, ABRA
+141 more
Copy number gain
not provided
GPathogenic
KCNS2, NIPAL2
+3 more
Copy number gain
not provided
GUncertain significance
OSR2, STK3
+1 more
Copy number gain
not provided
GUncertain significance
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
FZD6, PCAT1
+236 more
Copy number gain
not provided
GPathogenic
OSR2, STK3
+1 more
Copy number gain
not specified
GUncertain significance
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
ANKRD46, ATP6V1C1
+34 more
Duplication
Cohen syndrome
GUncertain significance
KCNS2, NIPAL2
+4 more
Duplication
Cohen syndrome
GUncertain significance
OSR2
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
OSR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OSR2, STK3
+1 more
Copy number gain
not provided
GUncertain significance
OSR2, STK3
+1 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
DCAF13, CNGB3
+105 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+277 more
Copy number gain
See cases
GPathogenic
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
RRM2B, SLC30A8
+160 more
Copy number gain
See cases
GPathogenic
SLC45A4, SLC7A13
+189 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+228 more
Copy number gain
See cases
GPathogenic
OSR2, STK3
+1 more
Copy number loss
See cases
GUncertain significance
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
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
AARD, ABRA
+1330 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
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1153 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
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