U.S. flag

An official website of the United States government

Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination

Search results

Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
BRIP1, EFCAB3
+39 more
Copy number loss
See cases
GLikely pathogenic
EFCAB3, LOC105371855
+27 more
Copy number gain
See cases
GLikely pathogenic
MARCHF10
(S803A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF10
(I802V +1 more)
Single nucleotide variant
(missense variant)
MARCHF10-related disorder
GLikely benign
MARCHF10
Single nucleotide variant
(intron variant)
MARCHF10-related disorder
GLikely benign
MARCHF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARCHF10
Single nucleotide variant
(intron variant)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(M765V +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC105371855, MARCHF10
(G706S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, LOC130061377
+1 more
(I737M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, MARCHF10
Single nucleotide variant
(synonymous variant)
MARCHF10-related disorder
GLikely benign
LOC105371855, MARCHF10
(E675D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, MARCHF10
(P671S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, MARCHF10
(S706P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, MARCHF10
(C661Y +2 more)
Single nucleotide variant
(missense variant)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(R659H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, MARCHF10
(E653K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, MARCHF10
(Q643P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, MARCHF10
(F600L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, MARCHF10
(P599S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC105371855, MARCHF10
(G586S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(G606S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC105371855, MARCHF10
(T559I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GLikely benign
LOC105371855, MARCHF10
(A578V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(E537K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(E525K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(I554T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(S492L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(M476T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(S456Y +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GLikely benign
LOC105371855, MARCHF10
(H428Y +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(E428K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(V427L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(D422N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(N415S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(R382G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC105371855, MARCHF10
(R365W +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC105371855, MARCHF10
(N358K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(H351R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(S350G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(K330Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(A365P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(F318S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(C308Y +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(P346S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(R344C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(D289N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(L279F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(V260I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(K241T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(F238S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(P226H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GBenign
LOC105371855, MARCHF10
(P222L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
LOC105371855, MARCHF10
(S205L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
MARCHF10-related disorder
GLikely benign
LOC105371855, MARCHF10
(T191S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC105371855, MARCHF10
(N189K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
MARCHF10
(P155L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF10
(S151L +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MARCHF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARCHF10
Single nucleotide variant
(intron variant +1 more)
MARCHF10-related disorder
GBenign
MARCHF10
(E124K)
Single nucleotide variant
(missense variant)
MARCHF10-related disorder
GLikely benign
MARCHF10
(P122L)
Single nucleotide variant
(missense variant)
MARCHF10-related disorder
GLikely benign
MARCHF10
(K116I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF10
Single nucleotide variant
(synonymous variant)
MARCHF10-related disorder
GBenign
MARCHF10
(L96H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF10
(S88A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF10
(I87M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF10
(P81S)
Single nucleotide variant
(missense variant)
MARCHF10-related disorder
GBenign
MARCHF10
(R61Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MARCHF10
Microsatellite
(intron variant)
MARCHF10-related disorder
GLikely benign
ACE, APPBP2
+43 more
Copy number gain
See cases
GUncertain significance
MARCHF10, MRC2
+1 more
Copy number loss
Intellectual developmental disorder with autistic features and language delay, with or without seizures
GUncertain significance
MARCHF10, MRC2
Copy number loss
not provided
GUncertain significance
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
TANC2, DDX42
+66 more
Copy number gain
See cases
GPathogenic
ACE, APOH
+48 more
Copy number gain
See cases
GPathogenic
Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination