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Links from Gene

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PM20D1
(E476K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(Q493L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(P421R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPS6KC1, SERTAD4
+185 more
Deletion
not provided
GPathogenic
PM20D1
(I201N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(F483V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(R413H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(P398T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(R363W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(Q34R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PM20D1
(I432T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(S259A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(G80R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(N467H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(D158N)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PM20D1
(I39N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(V49L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(S275N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(N350S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(S402F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(P421L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADIPOR1, ADORA1
+90 more
Duplication
Epilepsy, familial adult myoclonic, 5
GUncertain significance
ADIPOR1, ADORA1
+110 more
Duplication
not provided
GUncertain significance
PM20D1
(R462C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(V138E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(S113L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(T338K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(Q487K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(D224N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(V416I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PM20D1
(I447F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(L156V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(P233S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(V399I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PM20D1
(G209D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(I267T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(V6I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(V101A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PM20D1
(A235T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ASPM, IPO9
+211 more
Copy number gain
not provided
GPathogenic
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
PM20D1
(I380T)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
CD34, MDM4
+145 more
Copy number gain
not provided
Gnot provided
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
PM20D1
(M248T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PM20D1
(V419I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
LOC129932391, PIK3C2B
+278 more
Deletion
Autism
GLikely pathogenic
CAMK1G, CD34
+75 more
Copy number loss
Global developmental delay
+2 more
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
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