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Links from Gene

Items: 1 to 100 of 180

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ORC6
(T250I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ORC6
(S47N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ORC6
(V215L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MYLK3, ORC6
+1 more
Duplication
not provided
GUncertain significance
MYLK3, ORC6
+1 more
Duplication
not provided
GUncertain significance
ORC6
(I108T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ORC6
(I96V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ORC6
Duplication
not specified
GUncertain significance
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
(A170fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
(W58*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
C16orf87, GPT2
+4 more
Copy number gain
not provided
GUncertain significance
ORC6
(L179P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS35, ORC6
(G2R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYLK3, ORC6
+1 more
Deletion
not provided
GUncertain significance
MYLK3, ORC6
+1 more
Duplication
not provided
GUncertain significance
ABCC11, ABCC12
+9 more
Duplication
Glycogen storage disease IXb
GUncertain significance
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
(T42S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ORC6
(R137G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ORC6
(G166S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ORC6
(L92P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(P138L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
(L9P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(V167I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ORC6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ORC6
(C51del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
ORC6
(A114T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
(M113I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
(A170fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
(E17*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
(E211Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
(T229A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(M218R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C16orf87, MYLK3
+3 more
Copy number gain
not provided
GUncertain significance
HERPUD1, IRX3
+99 more
Copy number gain
not provided
GPathogenic
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ORC6
Single nucleotide variant
(intron variant)
not provided
GBenign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
Deletion
(intron variant)
not provided
GLikely benign
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6
(F105L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ORC6
(M59I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(Q127H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(A10S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(K155R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(D187N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(S3L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYLK3, ORC6
+1 more
Duplication
not provided
GUncertain significance
ORC6
(S31F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ORC6
(Q129L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(A244G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(R8H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYLK3, ORC6
+1 more
Duplication
Parkinson disease 17
GUncertain significance
ORC6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ORC6
(S47T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(K214E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C16orf87, DNAJA2
+5 more
Copy number gain
not provided
GUncertain significance
ORC6
Duplication
(intron variant)
not provided
GBenign
ORC6
Single nucleotide variant
not provided
GBenign
ORC6
Single nucleotide variant
(intron variant)
not provided
GBenign
ORC6
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC38A7, SLC6A2
+519 more
Duplication
not provided
GPathogenic
ORC6
(R22K)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
GPathogenic
ORC6
(A24V)
Single nucleotide variant
(missense variant +1 more)
Meier-Gorlin syndrome 3
GPathogenic
ORC6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ORC6, VPS35
Duplication
not provided
GUncertain significance
ORC6
(R65K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ORC6
(R174Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ITFG1, SHCBP1
+7 more
Copy number gain
not provided
GUncertain significance
VPS35, GPT2
+5 more
Copy number gain
not provided
GUncertain significance
ORC6
Single nucleotide variant
(splice acceptor variant)
Meier-Gorlin syndrome 3
GLikely pathogenic
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