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Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129996415, LOC129996416
+435 more
Copy number loss
See cases
GPathogenic
LOC132089395, LOC132089396
+324 more
Copy number loss
See cases
GPathogenic
AARS2, ABCC10
+221 more
Copy number loss
See cases
GPathogenic
PTK7
(A3P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(R5L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(A9V)
Single nucleotide variant
(missense variant +1 more)
PTK7-related disorder
GUncertain significance
PTK7
(P11R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(5 prime UTR variant +1 more)
PTK7-related disorder
GBenign
PTK7
(G7R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
PTK7
(P29H)
Single nucleotide variant
(missense variant +1 more)
PTK7-related disorder
GBenign
PTK7
(V61I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(D68N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PTK7
(A80T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PTK7
(R112W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(N116I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(N124S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PTK7
(L195F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(synonymous variant +1 more)
PTK7-related disorder
GLikely benign
PTK7
(R277K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(A304T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(P309L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(A328T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(intron variant)
not provided
GBenign
PTK7
(R339Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(P345L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PTK7
(P346R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PTK7
(R362Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(A393T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PTK7
(A401V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(A394V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(R400Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(A409P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(T450A +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTK7
(T485S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(synonymous variant +2 more)
PTK7-related disorder
GBenign
PTK7
(K531E +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(synonymous variant +1 more)
PTK7-related disorder
GLikely benign
PTK7
(P536L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PTK7
(R541H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PTK7
Single nucleotide variant
(synonymous variant +1 more)
PTK7-related disorder
GBenign
PTK7
(I591M +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTK7
(T505S +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
PTK7
(R661H +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
PTK7
(T545M +3 more)
Single nucleotide variant
(missense variant +2 more)
PTK7-related disorder
GLikely benign
LOC129996493, PTK7
(P687L +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC129996493, PTK7
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
LOC129996493, PTK7
(I665V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(A631G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(A647V +4 more)
Single nucleotide variant
(missense variant +1 more)
PTK7-related disorder
GBenign
PTK7
(S786N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(L696P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(R804Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(T774I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(intron variant)
not provided
GBenign
PTK7
(R869C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(D898N +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
PTK7
(E1038G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(C902R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(Y1037C +4 more)
Single nucleotide variant
(missense variant +1 more)
PTK7-related disorder
GUncertain significance
PTK7
(R1042C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(R1042H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTK7
(V1010M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCC10, BICRAL
+43 more
Deletion
not provided
GUncertain significance
ABCC10, BICRAL
+57 more
Duplication
PRPH2-related disorder
GUncertain significance
ABCC10, BICRAL
+58 more
Deletion
Peroxisome biogenesis disorder
GPathogenic
BICRAL, C6orf226
+16 more
Copy number gain
not provided
GUncertain significance
DLK2, ABCC10
+27 more
Deletion
not provided
GPathogenic
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
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