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Links from MedGen

Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDPCP
(C216* +1 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 15
GPathogenic
WDPCP
(G108V +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
+1 more
GUncertain significance
WDPCP
(S237I +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
+1 more
GUncertain significance
WDPCP
Single nucleotide variant
(intron variant)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+1 more
GBenign
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GLikely benign
WDPCP
(R101Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
+3 more
GUncertain significance
WDPCP
(I294V +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(I330T +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(Q659K +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(I254V +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(Q25K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(V473M +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(N646K +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(I212L +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(G58R +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(Q288R +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GUncertain significance
WDPCP
(C339G +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+1 more
GUncertain significance
WDPCP
Deletion
(splice donor variant)
Bardet-Biedl syndrome 15
+1 more
GPathogenic
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
WDPCP-related disorder
+3 more
GLikely benign
WDPCP
(G439D +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GLikely benign
WDPCP
(E60D +1 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+3 more
GLikely benign
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
WDPCP-related disorder
+3 more
GLikely benign
WDPCP
(K159* +2 more)
Single nucleotide variant
(nonsense +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GPathogenic/Likely pathogenic
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GConflicting classifications of pathogenicity
WDPCP
(A46V +1 more)
Single nucleotide variant
(missense variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GUncertain significance
WDPCP
(R122C +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GUncertain significance
WDPCP
(E194G +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(A316S +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(H18Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
WDPCP
(R72C +1 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+3 more
GUncertain significance
WDPCP
(V436D +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+4 more
GUncertain significance
WDPCP
(I207V +2 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+4 more
GConflicting classifications of pathogenicity
WDPCP
(R441H +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
WDPCP
(K57N +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
WDPCP
(L242V +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
WDPCP
(R164Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
+1 more
GUncertain significance
WDPCP
(K178N +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 15
GLikely pathogenic
WDPCP
(S16R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(R420C +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(G325E +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
WDPCP
(R164W +2 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+3 more
GUncertain significance
WDPCP
(I404V +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GUncertain significance
WDPCP
(K65E +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
+2 more
GUncertain significance
WDPCP
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 15
GPathogenic
WDPCP
(S229N +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
+2 more
GUncertain significance
WDPCP
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
(A367T +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
WDPCP
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
(N24D +1 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
(Q510K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
WDPCP
(F418L +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
+1 more
GUncertain significance
WDPCP
(S627I +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 15
+1 more
GUncertain significance
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 15
+1 more
GConflicting classifications of pathogenicity
WDPCP
(I221V +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 15
+1 more
GConflicting classifications of pathogenicity
WDPCP
(K739R +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 15
GLikely benign
WDPCP
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
(S114F +1 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+3 more
GUncertain significance
WDPCP
(N627H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
WDPCP
(E202V +2 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+4 more
GUncertain significance
WDPCP
(G195S +2 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+4 more
GConflicting classifications of pathogenicity
WDPCP
(V573I +2 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+4 more
GConflicting classifications of pathogenicity
WDPCP
(I285R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
WDPCP
(Q88E +1 more)
Single nucleotide variant
(missense variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GUncertain significance
WDPCP
(R281H +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+3 more
GUncertain significance
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
WDPCP-related disorder
+2 more
GConflicting classifications of pathogenicity
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+3 more
GConflicting classifications of pathogenicity
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
WDPCP-related disorder
+2 more
GConflicting classifications of pathogenicity
WDPCP
(R290C +2 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+2 more
GConflicting classifications of pathogenicity
WDPCP
(G74R +1 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+3 more
GConflicting classifications of pathogenicity
WDPCP
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 15
+1 more
GConflicting classifications of pathogenicity
WDPCP
(K187fs +2 more)
Microsatellite
(frameshift variant +1 more)
Bardet-Biedl syndrome 15
GUncertain significance
WDPCP
(T293S +2 more)
Single nucleotide variant
(missense variant +1 more)
Heart defect - tongue hamartoma - polysyndactyly syndrome
+3 more
GUncertain significance
WDPCP
Single nucleotide variant
(synonymous variant +1 more)
WDPCP-related disorder
+3 more
GConflicting classifications of pathogenicity
WDPCP
(V480I +2 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+4 more
GUncertain significance
WDPCP
(R483Q +2 more)
Single nucleotide variant
(missense variant +1 more)
WDPCP-related disorder
+3 more
GConflicting classifications of pathogenicity
WDPCP
(L421F +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
WDPCP
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 15
GLikely benign
WDPCP
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 15
GLikely benign
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