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Links from MedGen

Items: 1 to 100 of 282

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKS6
(K520T)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(T387P)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
(Q366*)
Single nucleotide variant
(nonsense)
Nephronophthisis 16
GPathogenic
ANKS6
(G454E)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
+1 more
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(F567fs)
Duplication
(frameshift variant)
Nephronophthisis 16
GPathogenic
ANKS6
(A64fs)
Deletion
(frameshift variant)
Nephronophthisis 16
GPathogenic
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(T726I)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
(R222Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Duplication
(intron variant)
Nephronophthisis 16
GBenign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(S444N)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(P698A)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
(P694S)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GBenign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
ANKS6-related disorder
+1 more
GLikely benign
ANKS6
(M539I)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(N218fs)
Duplication
(frameshift variant)
Nephronophthisis 16
GPathogenic
ANKS6
(I296T)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(K714N)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GLikely pathogenic
ANKS6
(R412Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(S757C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANKS6
(P279L)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
+1 more
GUncertain significance
ANKS6
(L434P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ANKS6
Microsatellite
(inframe_insertion)
Nephronophthisis 16
GUncertain significance
ANKS6
Deletion
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(W213*)
Single nucleotide variant
(nonsense)
Nephronophthisis 16
GPathogenic
ANKS6, LOC124310614
(S647N)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6, LOC124310614
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
(T24M)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(R686Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(N250K)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(P503R)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(E777D)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(E814fs)
Deletion
(frameshift variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(S719R)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(E212D)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(L190V)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(L332V)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
(R578H)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(T328M)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(R477C)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(V245L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6, LOC124310614
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
+1 more
GLikely benign
LOC124310614, ANKS6
(G640S)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(E775V)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(S860G)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
+1 more
GUncertain significance
ANKS6
(P564A)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
+1 more
GUncertain significance
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
(A350T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANKS6
(D450N)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(T607I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
(R467Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(H128N)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
(H203Y)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(intron variant)
Nephronophthisis 16
GLikely benign
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GLikely benign
ANKS6
(L434fs)
Deletion
(frameshift variant)
Nephronophthisis 16
GPathogenic
ANKS6
(S742L)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
+2 more
GUncertain significance
ANKS6
(Q797R)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
Single nucleotide variant
(synonymous variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(Q845P)
Single nucleotide variant
(missense variant)
Nephronophthisis 16
GUncertain significance
ANKS6
(A589E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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