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Links from MedGen

Items: 1 to 100 of 8377

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP3, NPHP3-ACAD11
(N386fs)
Deletion
(non-coding transcript variant +1 more)
Nephronophthisis
GLikely pathogenic
INVS
(E115fs +1 more)
Duplication
(frameshift variant +2 more)
Nephronophthisis
GPathogenic
INVS
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
(N182fs +1 more)
Deletion
(frameshift variant +2 more)
Nephronophthisis
GPathogenic
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GUncertain significance
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
INVS
(R576* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+1 more
GPathogenic
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP3, NPHP3-ACAD11
(Y1242*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
GPathogenic
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP4
(P164fs +2 more)
Deletion
(frameshift variant +1 more)
Nephronophthisis
GPathogenic
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(5 prime UTR variant +3 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
(R126* +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Nephronophthisis
GPathogenic
INVS
Single nucleotide variant
(non-coding transcript variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
+1 more
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
INVS
(L101fs +1 more)
Microsatellite
(frameshift variant +2 more)
Nephronophthisis
GPathogenic
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP3, NPHP3-ACAD11
(Q1040*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
GPathogenic
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP4
(L1271P +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
GLikely pathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
LOC129937586, NPHP3
+2 more
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
(K647fs +2 more)
Duplication
(frameshift variant +1 more)
Nephronophthisis
GPathogenic
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
INVS
(S548fs +2 more)
Duplication
(non-coding transcript variant +1 more)
Nephronophthisis
GPathogenic
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(5 prime UTR variant +3 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
GLIS2
Single nucleotide variant
(synonymous variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP4
Deletion
(intron variant)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
GLikely benign
IQCB1
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP1
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
LOC129937586, NPHP3
+2 more
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
GLikely benign
NPHP3, NPHP3-ACAD11
Single nucleotide variant
(non-coding transcript variant +1 more)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
GLikely benign
NPHP4
Deletion
(intron variant)
Nephronophthisis
GLikely benign
INVS
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+1 more
GLikely benign
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