U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX40
(K40E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(S504F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(I343V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(L126F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHX40
(A139T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(E118D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(T663A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(Y550C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(G490E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(A681G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLTC, DHX40
+8 more
Duplication
not provided
GUncertain significance
DHX40
(K742E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(M122I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHX40
(M100T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHX40
(R636C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(V206M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(H417R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(R171Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(R588C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(T478S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(L189W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(F483Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(Y91C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DHX40
(T231I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DHX40
(P154S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLTC, DHX40
+2 more
Copy number loss
not specified
GUncertain significance
AKAP1, APPBP2
+54 more
Duplication
Meckel-Gruber syndrome
+1 more
GUncertain significance
APPBP2, BCAS3
+13 more
Copy number loss
not provided
GPathogenic
DHX40
Copy number loss
See cases
GUncertain significance
TUBD1, VMP1
+5 more
Copy number loss
not provided
GLikely pathogenic
DHX40
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
APPBP2, BCAS3
+29 more
Copy number loss
See cases
GPathogenic
DHX40, GDPD1
+5 more
Copy number gain
See cases
GUncertain significance
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
CLTC, DHX40
+6 more
Copy number gain
See cases
GUncertain significance
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
AKAP1, ANKFN1
+65 more
Copy number gain
See cases
GPathogenic
TANC2, DDX42
+66 more
Copy number gain
See cases
GPathogenic
C17orf47, CCDC182
+168 more
Copy number loss
See cases
GPathogenic
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
CLTC, DHX40
+10 more
Copy number loss
See cases
GUncertain significance
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination