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Items: 1 to 100 of 194

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3C2B, PKP1
+1147 more
Copy number gain
See cases
GPathogenic
AVPR1B, AVPR1B-DT
+278 more
Deletion
Autism
GLikely pathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
NFASC
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
(P7L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(P8S)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
+2 more
GConflicting classifications of pathogenicity
NFASC
(G23R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NFASC
(M29V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NFASC
(V47M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(S66G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GBenign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
(P88L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R104H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(P103T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(E111G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(T126A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(T120M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
(P134S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(T159M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related condition
+1 more
GBenign
NFASC
Single nucleotide variant
(intron variant)
NFASC-related condition
GLikely benign
NFASC
(R182H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFASC
(M207I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related condition
+1 more
GLikely benign
NFASC
(S239T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(A253T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R254C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R254H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(M262I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related condition
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related condition
GLikely benign
NFASC
(L281F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
(L281P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
(K287T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
(T328M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(S324L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related condition
+1 more
GBenign
NFASC
(R370P +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GPathogenic
NFASC
(D402G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R407W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(N406S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related condition
+1 more
GBenign/Likely benign
NFASC
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GBenign
NFASC
(V422L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
(R425W +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(S445L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R447Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related condition
GBenign
NFASC
(R447W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R447Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R443W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(R443Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
(V474I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related condition
+1 more
GBenign
NFASC
(R509C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NFASC
Single nucleotide variant
(synonymous variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GBenign
NFASC
(T516A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
(R520Q +2 more)
Single nucleotide variant
(missense variant +1 more)
NFASC-related condition
GLikely benign
NFASC
(E523K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(V543L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
NFASC
(R545K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
NFASC
(L552Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(P557L +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(I560V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
NFASC
Single nucleotide variant
(synonymous variant +1 more)
NFASC-related condition
+1 more
GBenign
NFASC
(E608K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NFASC
(D595V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFASC
(V620M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant +2 more)
NFASC-related condition
GBenign
NFASC
(R623W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NFASC
(L632V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(D634N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NFASC
Single nucleotide variant
(synonymous variant)
NFASC-related condition
GLikely benign
NFASC
(N651D +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GUncertain significance
NFASC
(V674I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NFASC
(Q667R +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFASC
(P693S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(V681I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFASC
Single nucleotide variant
(synonymous variant)
NFASC-related condition
+1 more
GBenign
NFASC
Single nucleotide variant
(synonymous variant)
NFASC-related condition
GLikely benign
NFASC
(E741A +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GUncertain significance
NFASC
(M747I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(T754P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(S751L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NFASC
(R769Q +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with central and peripheral motor dysfunction
+1 more
GConflicting classifications of pathogenicity
NFASC
(V806M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NFASC
(R800* +2 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with central and peripheral motor dysfunction
GLikely pathogenic
NFASC
(R796Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NFASC
(G804R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NFASC
(V812I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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