U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 154

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD4, ANG
+312 more
Copy number loss
See cases
GPathogenic
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+399 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
LOC124958010, LOC124958011
+529 more
Copy number gain
See cases
GLikely pathogenic
ANG, ARHGEF40
+108 more
Copy number loss
See cases
GPathogenic
ARHGEF40, CHD8
+48 more
Copy number loss
See cases
GPathogenic
ABHD4, ARHGEF40
+242 more
Copy number gain
See cases
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant +2 more)
SALL2-related disorder
GLikely benign
SALL2
(M841L +1 more)
Single nucleotide variant
(missense variant +2 more)
SALL2-related disorder
GLikely benign
SALL2
(P997H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SALL2
(I988V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SALL2
(S987P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SALL2
(P982L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SALL2
(H970Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant +1 more)
SALL2-related disorder
GLikely benign
SALL2
(V964E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SALL2
(A816D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
(R952W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(P938L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(E779G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
(E769D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(E769D +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SALL2
(A741V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(P838R +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SALL2
(P701L +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SALL2
(S692G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SALL2
(A814V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(G678R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(E632G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
Microsatellite
(inframe_deletion)
Coloboma, ocular, autosomal recessive
GUncertain significance
SALL2
(P621R +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SALL2
(S757L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(S620P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
Variation
(no sequence alteration)
not provided
GBenign
SALL2
(R611G +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SALL2
(G609A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
(G607R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
SALL2-related disorder
GLikely benign
SALL2
(E601K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SALL2
(A587V +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SALL2
(G585V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(R709Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SALL2
(T568I +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SALL2
(F676S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(R538H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
(R540C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(R534W +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
(R647C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(R509W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(R636Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(S486L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(T479I +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
SALL2-related disorder
GLikely benign
SALL2
(A469V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(Q602R +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SALL2
(R601Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(R601W +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SALL2
(T435A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(M548I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(R410H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(T411I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(T544M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SALL2
(S354G +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SALL2
(E486D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SALL2
(V341G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(E328K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(E325K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(K424N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
(R287Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SALL2
(V268I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(R239H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(P363S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
(P208R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
(L331F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
SALL2-related disorder
GLikely benign
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SALL2
(P302L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
(H296Y +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SALL2
(S158T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SALL2
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
SALL2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SALL2
(P245S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SALL2
(T229S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SALL2
(P221L +1 more)
Single nucleotide variant
(missense variant +1 more)
Coloboma, ocular, autosomal recessive
GUncertain significance
Format
Items per page
Sort by
Choose Destination