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 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
ACP1, ADAM17
+498 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
ACP1, ADAM17
+413 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
ADAM17, ADI1
+546 more
Copy number gain
See cases
GPathogenic
ADAM17, ASAP2
+297 more
Copy number loss
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
C2orf50, E2F6
+98 more
Copy number gain
See cases
GPathogenic
MYCNUT, NBAS
+100 more
Deletion
Schizophrenia
GLikely pathogenic
ROCK2
(R1291Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(K1339Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(K1221R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(C1188R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(C1171G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(Q1242* +1 more)
Single nucleotide variant
(nonsense)
Dextrocardia
GUncertain significance
ROCK2
Single nucleotide variant
(intron variant)
ROCK2-related disorder
GLikely benign
ROCK2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ROCK2
Single nucleotide variant
(synonymous variant)
ROCK2-related disorder
GBenign
ROCK2
(H1041P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(R1044* +1 more)
Single nucleotide variant
(nonsense)
Non-immune hydrops fetalis
GUncertain significance
ROCK2
(A932T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(A1013T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(N889* +1 more)
Duplication
(nonsense)
not provided
GUncertain significance
ROCK2
(T876M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(E960Q +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ROCK2
(I858F +1 more)
Single nucleotide variant
(missense variant)
ROCK2-related disorder
GUncertain significance
ROCK2
(S851P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(R795T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
Single nucleotide variant
(intron variant)
ROCK2-related disorder
GBenign
ROCK2
(Q777P +1 more)
Single nucleotide variant
(missense variant)
ROCK2-related disorder
GUncertain significance
ROCK2
Single nucleotide variant
(synonymous variant)
ROCK2-related disorder
GLikely benign
ROCK2
Single nucleotide variant
(intron variant)
ROCK2-related disorder
GLikely benign
ROCK2
Single nucleotide variant
(synonymous variant)
ROCK2-related disorder
GBenign
ROCK2
(T707I +1 more)
Single nucleotide variant
(missense variant)
ROCK2-related disorder
GUncertain significance
ROCK2
(E665D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(V750L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(K648R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
Single nucleotide variant
(synonymous variant)
ROCK2-related disorder
GLikely benign
ROCK2
(Y722C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ROCK2
(R714* +1 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
ROCK2
(S614G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(A663V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(A577T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(L661S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(S629C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
Single nucleotide variant
(synonymous variant)
ROCK2-related disorder
GLikely benign
ROCK2
(L616I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(D515V +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
ROCK2
Single nucleotide variant
(intron variant)
ROCK2-related disorder
GLikely benign
ROCK2
(Q561R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(R441* +1 more)
Single nucleotide variant
(nonsense)
Non-immune hydrops fetalis
GUncertain significance
ROCK2
(E428G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(R476S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(R390C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(H455R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
Single nucleotide variant
(intron variant)
ROCK2-related disorder
GLikely benign
ROCK2
(E440K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(D346E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(T431N +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ROCK2
(I399V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(K391R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(K323E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(S226T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(R187Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(M244I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(D154H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(I119V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(V82I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(N62S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
Single nucleotide variant
(synonymous variant)
ROCK2-related disorder
GBenign
ROCK2
(F50C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ROCK2
(I129M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(K30T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ROCK2
(R110C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
E2F6, GREB1
+39 more
Copy number gain
See cases
GUncertain significance
ROCK2
(K80E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
(I41V)
Single nucleotide variant
(missense variant +1 more)
ROCK2-related disorder
GLikely benign
LOC129933119, ROCK2
(P40S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
(P37S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
(R35G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
(R26L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
(G21W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
(P18L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
Single nucleotide variant
(synonymous variant +1 more)
ROCK2-related disorder
GLikely benign
LOC129933119, ROCK2
(A17V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC129933119, ROCK2
(A13V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
(G12R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
(P6L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129933119, ROCK2
Single nucleotide variant
(synonymous variant +1 more)
ROCK2-related disorder
GLikely benign
LOC129933119, ROCK2
(M1R)
Single nucleotide variant
(missense variant +2 more)
ROCK2-related disorder
GUncertain significance
ABHD1, ACP1
+182 more
Copy number gain
See cases
GPathogenic
APOB, ASAP2
+59 more
Copy number gain
not specified
GPathogenic
ABHD1, ADAM17
+177 more
Copy number gain
not provided
GPathogenic
E2F6, GREB1
+4 more
Copy number gain
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
E2F6, GREB1
+4 more
Copy number gain
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination