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Links from MedGen

Items: 1 to 100 of 405

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NPHP4
(Q265*)
Single nucleotide variant
(5 prime UTR variant +3 more)
Nephronophthisis 4
GPathogenic
NPHP4
(E120K +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
GUncertain significance
NPHP4
(G225C)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis 4
GUncertain significance
NPHP4
(Q446*)
Single nucleotide variant
(non-coding transcript variant +2 more)
Nephronophthisis 4
GPathogenic
NPHP4
(R383fs +2 more)
Deletion
(frameshift variant +1 more)
Nephronophthisis 4
GLikely pathogenic
NPHP4
Duplication
(intron variant +1 more)
Nephronophthisis 4
GUncertain significance
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Duplication
(intron variant)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis 4
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis 4
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Senior-Loken syndrome 4
+2 more
GLikely benign
NPHP4
Deletion
(intron variant)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(5 prime UTR variant +2 more)
NPHP4-related disorder
+3 more
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis 4
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GLikely benign
NPHP4
(V377I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(P1222A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
NPHP4
(T157I +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(K809R +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(H454Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(R383W +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+2 more
GUncertain significance
NPHP4
(R814C +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(A1104T +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(A1159V +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(Y625C +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(G1299S +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(S480L +1 more)
Single nucleotide variant
(nonsense +2 more)
Nephronophthisis 4
+3 more
GUncertain significance
NPHP4
(A729T +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(F697L +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(E608K +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(Q235K +2 more)
Indel
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(R1373W +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+2 more
GUncertain significance
NPHP4
(Q269P)
Single nucleotide variant
(5 prime UTR variant +3 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(G1112D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
NPHP4
(N572K +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(A508V)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(A1090T +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP4
(F158fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Nephronophthisis
+2 more
GPathogenic/Likely pathogenic
NPHP4
(C272Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(R288H)
Single nucleotide variant
(5 prime UTR variant +2 more)
NPHP4-related disorder
+3 more
GUncertain significance
NPHP4
(R390C)
Single nucleotide variant
(5 prime UTR variant +2 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(T352M +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+4 more
GUncertain significance
NPHP4
(V304I)
Single nucleotide variant
(5 prime UTR variant +2 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(N1000D +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(E57G +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(S302L +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(V745fs +2 more)
Deletion
(frameshift variant +1 more)
Senior-Loken syndrome 4
+2 more
GPathogenic
NPHP4
(W640* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nephronophthisis
+1 more
GPathogenic/Likely pathogenic
NPHP4
(A827T +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(G474R +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(R433H +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(L1307Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
GUncertain significance
NPHP4
Single nucleotide variant
(splice donor variant)
Nephronophthisis 4
+2 more
GPathogenic/Likely pathogenic
NPHP4
Single nucleotide variant
(intron variant +1 more)
Nephronophthisis 4
+1 more
GLikely pathogenic
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GBenign/Likely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GBenign/Likely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(5 prime UTR variant +3 more)
NPHP4-related disorder
+3 more
GLikely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Deletion
(intron variant)
Nephronophthisis 4
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
Nephronophthisis
+2 more
GLikely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
NPHP4-related disorder
+3 more
GLikely benign
NPHP4
(K424fs)
Deletion
(5 prime UTR variant +2 more)
Nephronophthisis
+2 more
GPathogenic
NPHP4
(L457fs +2 more)
Duplication
(frameshift variant +1 more)
Senior-Loken syndrome 4
+2 more
GPathogenic/Likely pathogenic
NPHP4
(G1028fs +2 more)
Deletion
(frameshift variant +1 more)
Nephronophthisis
+2 more
GPathogenic/Likely pathogenic
NPHP4
(F1068C +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP4
(P483R)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(V1236M +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(A444T +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(N1011S +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(P193L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP4
(G197D +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(P165L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(Q410H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP4
(V605M +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(L48P)
Single nucleotide variant
(5 prime UTR variant +3 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(V275del +2 more)
Deletion
(inframe_deletion +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(R1247C +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(W37R)
Single nucleotide variant
(5 prime UTR variant +3 more)
Nephronophthisis 4
+3 more
GUncertain significance
NPHP4
(R227C +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+3 more
GUncertain significance
NPHP4
(P1177L +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
+2 more
GUncertain significance
NPHP4
(N1185K +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(V1421M +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+3 more
GUncertain significance
NPHP4
(I504S)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
(T233S +2 more)
Single nucleotide variant
(missense variant +1 more)
Senior-Loken syndrome 4
+2 more
GUncertain significance
NPHP4
(R259C +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+2 more
GUncertain significance
NPHP4
Single nucleotide variant
(splice acceptor variant)
Nephronophthisis 4
GPathogenic
NPHP4
Single nucleotide variant
(splice donor variant)
Nephronophthisis 4
GPathogenic
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