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Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+388 more
Copy number loss
See cases
GPathogenic
BEND7, BEND7-DT
+69 more
Copy number loss
See cases
GLikely pathogenic
LOC108903148, LOC108903149
+5 more
Deletion
Primary open angle glaucoma
+2 more
GPathogenic
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
Single nucleotide variant
(intron variant)
not provided
GBenign
MCM10
(D23N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(R34Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MCM10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM10
(E58D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(D69N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(G79fs)
Deletion
(frameshift variant)
Fetal Cardiomyopathy
GPathogenic
MCM10
(T96A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MCM10
(L101F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(A105T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(K110R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MCM10
(T137I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(R156Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(P197A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
(K200E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(G225W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(I225M +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MCM10
(S236G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(G238E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(T240M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MCM10
(C245W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(R254W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
Single nucleotide variant
(intron variant)
Fetal Cardiomyopathy
GPathogenic
MCM10
(R257W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(K267E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCM10
(I292V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
(R323H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MCM10
(T327I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(V350I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MCM10
(A356D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
(R406H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(R426C +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 80 with or without congenital cardiomyopathy
GPathogenic
MCM10
Single nucleotide variant
(synonymous variant)
not specified
GBenign
MCM10
(R452Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM10
(F518S +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 80 with or without congenital cardiomyopathy
GUncertain significance
MCM10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCM10
(H536R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(A541V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MCM10
(I556F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(R582* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency 80 with or without congenital cardiomyopathy
GPathogenic
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
(P603T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MCM10
(M623V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(K668R +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
MCM10
(G669V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCM10
(K683N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(L711F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(T741K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
Single nucleotide variant
(intron variant)
not specified
GBenign
MCM10
(A750V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(R754C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(K763E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(R778S +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency 80 with or without congenital cardiomyopathy
GUncertain significance
MCM10
(R779H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MCM10
(Y787F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(L792M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(H806Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(G837D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(R843W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(R842Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MCM10
(G845R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(G851D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(T858I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MCM10
(E866K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BEND7, CAMK1D
+15 more
Copy number gain
not provided
GUncertain significance
AGAP5, CRTAC1
+682 more
Copy number gain
Distal trisomy 10q
GPathogenic
ABRAXAS2, CHCHD1
+673 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
ABI1, ACBD5
+111 more
Copy number gain
not specified
GPathogenic
CAMK1D, CCDC3
+8 more
Duplication
not provided
GUncertain significance
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
ACBD7, BEND7
+36 more
Copy number loss
Neurodevelopmental delay
GPathogenic
CAMK1D, CCDC3
+3 more
Copy number gain
See cases
GUncertain significance
ACBD7, ADARB2
+68 more
Copy number gain
not provided
GPathogenic
WDR37, ZMYND11
+68 more
Copy number gain
not provided
GPathogenic
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