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Links from MedGen

Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RIPK4
(H156P)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(R241H)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GLikely pathogenic
RIPK4
Single nucleotide variant
(intron variant)
Bartsocas-Papas syndrome 1
+1 more
GBenign
RIPK4
Single nucleotide variant
(intron variant)
Bartsocas-Papas syndrome 1
+1 more
GBenign
RIPK4
(Q504R)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GBenign
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(P252L)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(R271Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RIPK4
(R521W)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(L565R)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(R621H)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GBenign
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(D300V)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(V347I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
RIPK4
(S360F)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(K369R)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(G681R)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(G20D)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(intron variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GBenign
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(G93S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RIPK4
(A126V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RIPK4
Single nucleotide variant
(intron variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(G485S)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(R493W)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GBenign
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(V561M)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RIPK4
(L766V)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
+1 more
GLikely benign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RIPK4
(S367I)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
+1 more
GLikely benign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RIPK4
(A775T)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
+2 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
+1 more
GConflicting classifications of pathogenicity
RIPK4
Single nucleotide variant
(synonymous variant)
Curly hair, ankyloblepharon, nail dysplasia syndrome
+2 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
+1 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(splice donor variant)
Bartsocas-Papas syndrome 1
+1 more
GConflicting classifications of pathogenicity
RIPK4
(E359*)
Duplication
(nonsense)
Bartsocas-Papas syndrome 1
GPathogenic
RIPK4
(G163D)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(G3S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
RIPK4
(A12G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
+2 more
GConflicting classifications of pathogenicity
RIPK4
(P91T)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(T101M)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RIPK4
(R260H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(intron variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(R320Q)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
+1 more
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(S398I)
Single nucleotide variant
(missense variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
(V415M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RIPK4
(G670S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RIPK4
Single nucleotide variant
(synonymous variant)
Bartsocas-Papas syndrome 1
+1 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
+1 more
GBenign
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
RIPK4
Single nucleotide variant
(3 prime UTR variant)
Bartsocas-Papas syndrome 1
GUncertain significance
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