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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B9D2
(G162C)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 10
+4 more
GUncertain significance
B9D2
Insertion
(intron variant)
Meckel syndrome, type 10
+1 more
GBenign
B9D2
Single nucleotide variant
(intron variant)
Meckel syndrome, type 10
+1 more
GBenign
B9D2
Single nucleotide variant
(intron variant)
Meckel syndrome, type 10
+1 more
GBenign
B9D2
(Y56*)
Single nucleotide variant
(nonsense)
Meckel syndrome, type 10
GLikely pathogenic
B9D2
(H5Q)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 10
GLikely pathogenic
B9D2
(R166C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
B9D2
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+4 more
GBenign/Likely benign
B9D2
(I11M)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
B9D2
Single nucleotide variant
(3 prime UTR variant)
not specified
+4 more
GBenign
B9D2
(S101R)
Single nucleotide variant
(missense variant)
Joubert syndrome and related disorders
GPathogenic
TGFB1
(P10L)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
+4 more
GBenign
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