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Items: 1 to 100 of 751

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
ABCA13, ADCY1
+380 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+317 more
Copy number loss
See cases
GPathogenic
LOC126860033, LOC126860034
+426 more
Copy number loss
See cases
GPathogenic
LOC113748397, LOC113748398
+200 more
Copy number loss
See cases
GPathogenic
PKD1L1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PKD1L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1
(V2833M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1
(S2830N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
+1 more
GLikely benign
PKD1L1
(T2818fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
PKD1L1
(P2813L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PKD1L1
(L2810R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKD1L1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
GLikely benign
PKD1L1
(G2805R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKD1L1
(F2792L)
Single nucleotide variant
(missense variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PKD1L1, PKD1L1-AS1
(M2781T)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
GUncertain significance
PKD1L1, PKD1L1-AS1
(K2775N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1-AS1, PKD1L1
(K2749T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
(M2737V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
(C2715F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
(M2713T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
(R2711Q)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
GUncertain significance
PKD1L1, PKD1L1-AS1
(R2711W)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
+1 more
GConflicting classifications of pathogenicity
PKD1L1-AS1, PKD1L1
(Q2710H)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
+1 more
GBenign
PKD1L1, PKD1L1-AS1
(S2708C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
(C2701*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
+1 more
GBenign/Likely benign
PKD1L1, PKD1L1-AS1
(P2687S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
GUncertain significance
PKD1L1, PKD1L1-AS1
(A2685T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
(T2683R)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
(W2675C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
(S2673F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
(R2669Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
(R2669*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PKD1L1, PKD1L1-AS1
(L2664V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PKD1L1, PKD1L1-AS1
(V2656L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
Insertion
(intron variant)
not provided
GBenign
PKD1L1-AS1, PKD1L1
(S2646*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
GLikely benign
PKD1L1-AS1, PKD1L1
(C2639S)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
GUncertain significance
PKD1L1-AS1, PKD1L1
(I2632V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
(C2626R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PKD1L1, PKD1L1-AS1
(R2615Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PKD1L1, PKD1L1-AS1
(W2613*)
Single nucleotide variant
(nonsense)
PKD1L1-related condition
GLikely pathogenic
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PKD1L1, PKD1L1-AS1
(L2603F)
Single nucleotide variant
(missense variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
(M2599V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
PKD1L1, PKD1L1-AS1
(R2596L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PKD1L1, PKD1L1-AS1
(G2577D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1-AS1, PKD1L1
(G2577S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
(Y2573C)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GUncertain significance
PKD1L1, PKD1L1-AS1
(S2569T)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
(V2565M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(splice acceptor variant)
PKD1L1-related condition
GLikely pathogenic
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PKD1L1, PKD1L1-AS1
(R2555*)
Single nucleotide variant
(nonsense)
PKD1L1-related condition
+1 more
GPathogenic
PKD1L1, PKD1L1-AS1
(V2550I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PKD1L1, PKD1L1-AS1
(M2546T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
+1 more
GLikely benign
PKD1L1, PKD1L1-AS1
(S2515R)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
GUncertain significance
PKD1L1, PKD1L1-AS1
(R2514H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PKD1L1-AS1, PKD1L1
(I2512N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
(V2507M)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
GUncertain significance
PKD1L1, PKD1L1-AS1
(P2503L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
GLikely benign
PKD1L1-AS1, PKD1L1
(H2475Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKD1L1, PKD1L1-AS1
(S2473F)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
+2 more
GLikely benign
PKD1L1, PKD1L1-AS1
(S2473P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKD1L1, PKD1L1-AS1
(R2470T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
(S2462R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKD1L1-AS1, PKD1L1
(A2461T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PKD1L1, PKD1L1-AS1
(R2458Q)
Single nucleotide variant
(missense variant)
PKD1L1-related condition
+1 more
GBenign
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(synonymous variant)
PKD1L1-related condition
GLikely benign
PKD1L1, PKD1L1-AS1
(T2454I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PKD1L1, PKD1L1-AS1
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 8, autosomal
+1 more
GBenign
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