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Links from Gene

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CARMIL1
(S415Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CARMIL1, H2AC1
+7 more
Copy number gain
not specified
GUncertain significance
ACOT13, ALDH5A1
+38 more
Copy number loss
not provided
GLikely pathogenic
CARMIL1, H2AC1
+2 more
Copy number gain
not provided
GUncertain significance
CARMIL1
(I951V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CARMIL1
(A746V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CARMIL1
(G1046D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CARMIL1
(D1110N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CARMIL1
(E4Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CARMIL1
Copy number loss
not specified
GUncertain significance
CARMIL1
(R1082Q)
Single nucleotide variant
(missense variant)
Sensorineural hearing loss disorder
GUncertain significance
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
ACOT13, ALDH5A1
+64 more
Copy number loss
See cases
GUncertain significance
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