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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL36A, IL36B
+9 more
Copy number gain
See cases
GLikely benign
IL37
(M1I)
Single nucleotide variant
(missense variant +1 more)
Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive
GUncertain significance
IL37
(P36Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL37
(T42A)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
IL37
(F45I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL37
(P31L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL37
(P57R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL37
(S61I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL37
(D40Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL37
(H41Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IL37
(D47N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL37
(N50S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL37
(R87C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL37
(A101D +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL37
(A103V +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IL37
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL37
(R112W +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
IL37
(I177T +4 more)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease
GPathogenic
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
ACTR3, BIN1
+51 more
Copy number loss
not specified
GPathogenic
CHCHD5, CKAP2L
+14 more
Copy number gain
not provided
GUncertain significance
ACTR3, CBWD2
+13 more
Copy number gain
not provided
GUncertain significance
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
C2orf15, C2orf49
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
DCAF17, DCDC2C
+1214 more
Copy number gain
See cases
GPathogenic
AAK1, AAMP
+1214 more
Copy number gain
See cases
GPathogenic
BUB1, PSD4
+53 more
Copy number loss
See cases
GPathogenic
TMEM87B, IL37
+40 more
Copy number loss
See cases
GPathogenic
RGPD8, ACTR3
+63 more
Copy number loss
See cases
GPathogenic
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