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Links from MedGen

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHGDH
(A257fs)
Deletion
(frameshift variant)
Neu-Laxova syndrome 1
GPathogenic
PHGDH
(V404I)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GConflicting classifications of pathogenicity
PHGDH
(M1L)
Single nucleotide variant
(missense variant +1 more)
PHGDH deficiency
GPathogenic
PHGDH
(G131S)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GUncertain significance
PHGDH
(L465fs)
Deletion
(frameshift variant)
Neu-Laxova syndrome 1
+1 more
GPathogenic/Likely pathogenic
PHGDH
(S37G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PHGDH
(Q29H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PHGDH
Single nucleotide variant
(intron variant)
PHGDH deficiency
+1 more
GUncertain significance
PHGDH
(S512A)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GUncertain significance
PHGDH
(S311F)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+3 more
GUncertain significance
PHGDH
(M1T)
Single nucleotide variant
(missense variant +1 more)
Neu-Laxova syndrome 1
+1 more
GPathogenic/Likely pathogenic
PHGDH
(R469Q)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+2 more
GUncertain significance
PHGDH
(E40G)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GUncertain significance
PHGDH
(R230H)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GUncertain significance
PHGDH
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PHGDH
Single nucleotide variant
(intron variant)
PHGDH deficiency
+1 more
GBenign
PHGDH
(V72M)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GUncertain significance
PHGDH
(A61T)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+3 more
GUncertain significance
PHGDH
Single nucleotide variant
(splice acceptor variant)
PHGDH deficiency
+2 more
GPathogenic/Likely pathogenic
PHGDH
(N449S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PHGDH
(V304M)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+1 more
GUncertain significance
PHGDH
(R268W)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+1 more
GUncertain significance
PHGDH
(A88T)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+1 more
GUncertain significance
PHGDH
(T141I)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+2 more
GUncertain significance
PHGDH
(Q189P)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+2 more
GUncertain significance
PHGDH
Single nucleotide variant
(splice acceptor variant)
Neu-Laxova syndrome 1
+1 more
GLikely pathogenic
PHGDH
(E159G)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+1 more
GUncertain significance
PHGDH
(E134K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PHGDH
(R270Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PHGDH
Single nucleotide variant
(splice donor variant)
Neu-Laxova syndrome 1
+1 more
GLikely pathogenic
PHGDH
(V301fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
PHGDH
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
PHGDH
Single nucleotide variant
(synonymous variant)
PHGDH deficiency
+2 more
GBenign
PHGDH
(A248V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PHGDH
(T329S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PHGDH
(P99R)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+1 more
GLikely benign
PHGDH
(V316M)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+1 more
GUncertain significance
PHGDH
(A366S)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GConflicting classifications of pathogenicity
PHGDH
(A373T)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+1 more
GUncertain significance
PHGDH
(E420K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
PHGDH
(R236C)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+2 more
GUncertain significance
PHGDH
(G228W)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+2 more
GConflicting classifications of pathogenicity
PHGDH
(L199V)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+2 more
GBenign/Likely benign
PHGDH
(A248D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PHGDH
(R344*)
Single nucleotide variant
(nonsense)
PHGDH deficiency
+2 more
GPathogenic/Likely pathogenic
PHGDH
(R491W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PHGDH
(S14G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PHGDH
(G419R)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+3 more
GUncertain significance
PHGDH
Single nucleotide variant
(intron variant)
PHGDH deficiency
+2 more
GBenign/Likely benign
PHGDH
Single nucleotide variant
(intron variant)
PHGDH deficiency
+2 more
GBenign/Likely benign
PHGDH
(R163W)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GUncertain significance
PHGDH
Single nucleotide variant
(synonymous variant)
PHGDH deficiency
+2 more
GBenign
PHGDH
(G429R)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GUncertain significance
PHGDH
(M306V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PHGDH
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PHGDH
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PHGDH
Single nucleotide variant
(intron variant)
PHGDH deficiency
+2 more
GBenign
PHGDH
Single nucleotide variant
not provided
+2 more
GBenign
PHGDH
Single nucleotide variant
not provided
+2 more
GBenign
PHGDH
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PHGDH
(A286P)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
GPathogenic
PHGDH
(E265K)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
GPathogenic
PHGDH
(R163Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PHGDH
(G140R)
Single nucleotide variant
(missense variant)
PHGDH deficiency
GConflicting classifications of pathogenicity
PHGDH
(V261M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PHGDH
(G377S)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+2 more
GPathogenic/Likely pathogenic
PHGDH
(R135W)
Single nucleotide variant
(missense variant)
PHGDH deficiency
+1 more
GPathogenic/Likely pathogenic
PHGDH
(V425M)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+1 more
GConflicting classifications of pathogenicity
PHGDH
(V490M)
Single nucleotide variant
(missense variant)
Neu-Laxova syndrome 1
+2 more
GPathogenic/Likely pathogenic
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