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Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
CHI3L1
(T383M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(F363C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(G361D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(A347V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(K335R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(S333I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(Y328H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(P317R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(G313S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(R304C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(V274I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(F261S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(T260S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(M256T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(M244L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHI3L1
(S230I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(S230N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(R224Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(R213H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(H209R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(Y206H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(K193R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CHI3L1
(A180V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(A176T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(A159D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(H130N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(R128C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(P124L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(R117W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CHI3L1
(G102W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
Single nucleotide variant
(splice acceptor variant)
Schizophrenia
GUncertain significance
CHI3L1
(D67N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(H53L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(A45T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(D38N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(T29I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(A21T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(S20A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(A5V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CHI3L1
(A5E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
(A5T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHI3L1
Single nucleotide variant
Asthma-related traits, susceptibility to, 7
Grisk factor
RPS6KC1, SERTAD4
+185 more
Deletion
not provided
GPathogenic
ADIPOR1, ADORA1
+58 more
Copy number gain
not specified
GLikely pathogenic
ADIPOR1, ADORA1
+57 more
Copy number loss
not specified
GLikely pathogenic
ADIPOR1, ADORA1
+90 more
Duplication
Epilepsy, familial adult myoclonic, 5
GUncertain significance
ADIPOR1, ADORA1
+110 more
Duplication
not provided
GUncertain significance
ASPM, IPO9
+211 more
Copy number gain
not provided
GPathogenic
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
CD34, MDM4
+145 more
Copy number gain
not provided
Gnot provided
CHI3L1, CHIT1
+2 more
Copy number loss
not provided
GUncertain significance
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ADORA1, CHI3L1
+1 more
Copy number gain
See cases
GUncertain significance
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
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