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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMMECR1L, BIN1
+254 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
AMMECR1L, BIN1
+121 more
Copy number loss
See cases
GPathogenic
LOC115945190, LOC120961783
+101 more
Copy number loss
See cases
GPathogenic
AMMECR1L, BIN1
+116 more
Copy number loss
See cases
GLikely pathogenic
AMMECR1L, BIN1
+100 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+336 more
Copy number loss
See cases
GPathogenic
LOC129934710, LOC129934711
+112 more
Deletion
See cases
Gnot provided
AMMECR1L, BIN1
+125 more
Copy number gain
See cases
GUncertain significance
CYP27C1
(V366M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(G527E +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CYP27C1
(G361A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(G526R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(T524M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CYP27C1
(Q346R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP27C1
(D301A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R455W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R450W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(N447S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(G266S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(G425R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R415W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R373L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R373W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(T205A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(Q368R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(H364Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(T185M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(V182I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(T322A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R314Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R149W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(G313D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R304S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(F292L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R117Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(R271T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(L90I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(N213K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(Y199C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(P12Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP27C1
(V4I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
AMMECR1L, BIN1
+16 more
Copy number gain
not specified
GUncertain significance
AMMECR1L, BIN1
+15 more
Copy number loss
not provided
GUncertain significance
AMMECR1L, BIN1
+14 more
Deletion
Thrombophilia due to protein C deficiency, autosomal dominant
GPathogenic
AMMECR1L, BIN1
+15 more
Deletion
not provided
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
BIN1, CYP27C1
+7 more
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2W
+1 more
GUncertain significance
BIN1, CYP27C1
+1 more
Duplication
not provided
GUncertain significance
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, AMER3
+64 more
Copy number loss
not provided
GPathogenic
BIN1, CYP27C1
+2 more
Copy number gain
not provided
Gnot provided
AMER3, AMMECR1L
+44 more
Copy number loss
See cases
GLikely pathogenic
BIN1, PTPN4
+24 more
Copy number loss
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
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ACMSD, AMER3
+74 more
Copy number loss
See cases
GPathogenic
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