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Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
KIF9, KIF9-AS1
(H775N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(F689S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(I750T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(R652P +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIF9, KIF9-AS1
(M576L +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIF9, KIF9-AS1
(D640H +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
KIF9, KIF9-AS1
(R531C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(L598P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(L586I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(L497P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(K570N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(Q494H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(E548D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(R547Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(N478S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(K533N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(R466Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(V504A +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(P434L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KIF9-AS1
(R492C +3 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
KIF9, KIF9-AS1
(S559L +3 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
KIF9, KIF9-AS1
(R547W +3 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
KIF9
(K426R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(F514L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(K528N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(I472V +3 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KIF9
(R426W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(N348Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(F347L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(I335N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(Q391H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(H298N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(A296T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(A322T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(G244E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(I331T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(S229T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(I279V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(I129T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(F150Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIF9
(S148G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KIF9
(R132H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(G147R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(D81N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(Q64R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
(V60G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF9
(R12H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF9, KLHL18
+3 more
Copy number gain
not provided
GUncertain significance
KIF9, KLHL18
+2 more
Duplication
Luscan-Lumish syndrome
GUncertain significance
ALS2CL, ARIH2
+66 more
Duplication
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
GUncertain significance
KIF9, KLHL18
+1 more
Copy number gain
not provided
GUncertain significance
KIF9, KLHL18
+1 more
Copy number gain
not provided
GUncertain significance
NCKIPSD, NDUFAF3
+71 more
Copy number loss
not provided
GPathogenic
KIF9, KLHL18
+3 more
Copy number gain
not provided
GUncertain significance
APEH, HEMK1
+177 more
Copy number gain
not provided
GPathogenic
PTPN23, SCAP
+3 more
Copy number gain
See cases
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABHD5, ACAA1
+177 more
Copy number gain
See cases
GLikely pathogenic
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