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Links from MedGen

Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1L1, PKD1L1-AS1
(K2699fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 8, autosomal
GPathogenic
PKD1L1, PKD1L1-AS1
(W2337*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 8, autosomal
GLikely pathogenic
PKD1L1
(R2250*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 8, autosomal
GLikely pathogenic
PKD1L1
(H2042fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 8, autosomal
GLikely pathogenic
PKD1L1
(H358fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 8, autosomal
GLikely pathogenic
PKD1L1
Single nucleotide variant
(splice donor variant)
Heterotaxy, visceral, 8, autosomal
GLikely pathogenic
PKD1L1
(R1332C)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GUncertain significance
PKD1L1
(Q463*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 8, autosomal
GPathogenic
PKD1L1
(Q1600fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 8, autosomal
GPathogenic
PKD1L1
(R1347*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 8, autosomal
GPathogenic
PKD1L1
(G1273V)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
(A2283V)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
(R776G)
Indel
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1, PKD1L1-AS1
(P2687S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
(A104T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GLikely benign
PKD1L1
(P1793L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PKD1L1, PKD1L1-AS1
(Y2573C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PKD1L1
(I669V)
Single nucleotide variant
(missense variant)
PKD1L1-related disorder
+2 more
GConflicting classifications of pathogenicity
PKD1L1
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
(P676L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1, PKD1L1-AS1
(R2669*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PKD1L1
(W2132*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 8, autosomal
GLikely pathogenic
PKD1L1
Single nucleotide variant
(5 prime UTR variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
(K1696fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 8, autosomal
GLikely pathogenic
PKD1L1
(Y1646*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 8, autosomal
GLikely pathogenic
PKD1L1
(P1278Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PKD1L1
(R1053P)
Single nucleotide variant
(missense variant)
PKD1L1-related disorder
+2 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
Single nucleotide variant
(synonymous variant)
PKD1L1-related disorder
+2 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
PKD1L1-related disorder
+2 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PKD1L1
(K1272E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PKD1L1
Duplication
(intron variant)
not provided
+1 more
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PKD1L1, PKD1L1-AS1
(A2685T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PKD1L1
Single nucleotide variant
(synonymous variant)
PKD1L1-related disorder
+2 more
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PKD1L1
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
(P2021L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PKD1L1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
(P305S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GUncertain significance
PKD1L1, PKD1L1-AS1
(S2473F)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+2 more
GLikely benign
PKD1L1
(P1853S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
(P2813L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1, PKD1L1-AS1
(P2432S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GConflicting classifications of pathogenicity
PKD1L1
(C193Y)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
(H1720Y)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
(Q1201*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PKD1L1
Deletion
(intron variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
Single nucleotide variant
(splice donor variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GPathogenic
PKD1L1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
PKD1L1
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
(T2038S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1
(R990Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PKD1L1
(V2300I)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+2 more
GBenign/Likely benign
PKD1L1
(R1347Q)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign/Likely benign
PKD1L1
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 8, autosomal
+2 more
GBenign/Likely benign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKD1L1
Deletion
(splice donor variant)
PKD1L1-related disorder
+2 more
GPathogenic
PKD1L1
(C1691S)
Single nucleotide variant
(missense variant)
Situs inversus
GLikely pathogenic
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