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Links from Gene

Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELAPOR1
(L192R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(T64M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(D857Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(L511R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(R115H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(T180M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(N442S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(E3A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(A195G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(T180S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(R237Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(R24W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(E132V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(I22K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(R21L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(G50R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(D145V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(R21Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(S15C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(R115C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(C9R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(S642L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(S92C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(S92Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(T581I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(G787E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(S750R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(S499L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(T497M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(P740S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(V731L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(R817H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(R730C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(S81R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1, LOC126805820
(V457M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1, LOC126805820
(V667L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1, LOC126805820
(C401Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(P73R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1, LOC126805820
(T377I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(Y593F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(H549Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(D62G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(R251H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(Y471C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(L387V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(T373A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(Y321H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(G312A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(P398S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(N53S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(H291P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(Q37R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(E27D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(E263K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(L277P +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(N345S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(D343N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(T238M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADORA3, AHCYL1
+48 more
Copy number loss
not specified
GUncertain significance
CELSR2, CFAP276
+7 more
Copy number gain
not specified
GUncertain significance
AKNAD1, CELSR2
+10 more
Copy number gain
not specified
GUncertain significance
CLCC1, ELAPOR1
+6 more
Copy number gain
not provided
GUncertain significance
ADORA3, AHCYL1
+54 more
Copy number loss
not provided
GPathogenic
ELAPOR1
(P139A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(S224R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(T64A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(H309Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(H527R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(S97N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(A180V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(V823I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(S316Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(H237P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(D1012E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1
(R21G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ELAPOR1, LOC126805820
(R620Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ELAPOR1
(K158R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AHCYL1, AKNAD1
+52 more
Deletion
Hereditary spastic paraplegia 63
+1 more
GPathogenic
CELSR2, CFAP276
+7 more
Duplication
not provided
GUncertain significance
AKNAD1, CELSR2
+11 more
Copy number gain
not provided
GUncertain significance
AKNAD1, CELSR2
+8 more
Copy number gain
not provided
GUncertain significance
AKNAD1, CELSR2
+11 more
Copy number gain
not provided
GUncertain significance
AKNAD1, CELSR2
+8 more
Copy number gain
not specified
GUncertain significance
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
AKNAD1, AMIGO1
+30 more
Copy number loss
not provided
GUncertain significance
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
CELSR2, CFAP276
+7 more
Duplication
not provided
GUncertain significance
GPSM2, CFAP276
+8 more
Copy number loss
not provided
GUncertain significance
ELAPOR1, LOC126805820
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ELAPOR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CELSR2, CFAP276
+7 more
Copy number gain
not provided
GUncertain significance
CFAP276, CLCC1
+5 more
Copy number gain
not provided
GUncertain significance
AHCYL1, AKNAD1
+47 more
Deletion
not provided
Gnot provided
KCNC4, LAMTOR5
+50 more
Deletion
1p13.3 deletion syndrome
GLikely pathogenic
ELAPOR1, GPSM2
+6 more
Copy number gain
not provided
Gnot provided
SARS1, ELAPOR1
Copy number loss
not provided
GUncertain significance
AHCYL1, AKNAD1
+242 more
Deletion
Autism
GLikely pathogenic
AKNAD1, CELSR2
+12 more
Copy number gain
See cases
GUncertain significance
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
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