U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ6, ENTPD5
(R190L +6 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GUncertain significance
COQ6, ENTPD5
(P348L +8 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
+1 more
GUncertain significance
COQ6, ENTPD5
(V268I +6 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
+1 more
GUncertain significance
COQ6, ENTPD5
(R117* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
COQ6
Single nucleotide variant
(synonymous variant)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
+1 more
GBenign/Likely benign
ENTPD5, COQ6
(S185C +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
COQ6, ENTPD5
(D260E +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
COQ6, ENTPD5
(V118L +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
COQ6, ENTPD5
(T446M +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
+1 more
GUncertain significance
COQ6, ENTPD5
(R335W +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COQ6, ENTPD5
(R190W +6 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GUncertain significance
COQ6, ENTPD5
(R318* +8 more)
Single nucleotide variant
(nonsense +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
+1 more
GPathogenic/Likely pathogenic
COQ6, ENTPD5
Deletion
(frameshift variant +3 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(Q229P +6 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6
(K39del +1 more)
Deletion
(inframe_deletion)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GLikely pathogenic
COQ6
(R13C)
Single nucleotide variant
(missense variant +1 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GUncertain significance
COQ6, ENTPD5
(Q119H +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GUncertain significance
COQ6, ENTPD5
(E413* +8 more)
Single nucleotide variant
(nonsense +1 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(R360L +8 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GLikely pathogenic
COQ6, ENTPD5
(P261L +6 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
+1 more
GPathogenic/Likely pathogenic
COQ6, ENTPD5
(P415Q +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
+2 more
GBenign/Likely benign
COQ6, ENTPD5
(H394P +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GUncertain significance
COQ6, ENTPD5
Single nucleotide variant
(synonymous variant +2 more)
COQ6-related condition
+2 more
GLikely benign
COQ6, ENTPD5
(R304H +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
COQ6, ENTPD5
(V357fs +1 more)
Deletion
(frameshift variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(I437fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
ENTPD5, COQ6
(W422* +8 more)
Single nucleotide variant
(nonsense +1 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(Y387C +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COQ6, ENTPD5
(G230R +6 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(W163* +4 more)
Single nucleotide variant
(nonsense +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6
Duplication
(intron variant)
not provided
+1 more
GBenign/Likely benign
COQ6, ENTPD5
(F281S +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
COQ6, ENTPD5
(D121Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
COQ6, ENTPD5
(T370M +9 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
COQ6
(W14* +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
COQ6, ENTPD5
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
COQ6, ENTPD5
Single nucleotide variant
(synonymous variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
+2 more
GBenign
COQ6, ENTPD5
(V381M +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
COQ6, ENTPD5
(R162* +4 more)
Single nucleotide variant
(nonsense +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
COQ6, ENTPD5
(A353D +8 more)
Single nucleotide variant
(missense variant +2 more)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
GPathogenic
Format
Items per page
Sort by
Choose Destination