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Links from MedGen

Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD17B10
(A4G)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GUncertain significance
HSD17B10
(T108I)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
+2 more
GUncertain significance
HSD17B10
(G21V)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GUncertain significance
HSD17B10
(L227F +1 more)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GLikely pathogenic
HSD17B10
(V38A)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GUncertain significance
HSD17B10
(R116Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSD17B10
(Q211H +1 more)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GUncertain significance
HSD17B10
(R29G)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GLikely pathogenic
HSD17B10
(C5Y)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GUncertain significance
HSD17B10
(G55E)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GLikely pathogenic
HSD17B10
(I251M +1 more)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GLikely pathogenic
HSD17B10
(G173R)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GLikely pathogenic
HSD17B10
(V85M)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GUncertain significance
HSD17B10
(R217Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HSD17B10
(V87I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HSD17B10
(R147C)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
+3 more
GPathogenic/Likely pathogenic
HSD17B10
(K212E +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
HSD17B10
(P198T)
Single nucleotide variant
(missense variant +1 more)
HSD10 mitochondrial disease
GLikely pathogenic
HSD17B10
(T73R)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GUncertain significance
HSD17B10
(D86G)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GPathogenic
HSD17B10
(V65A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HSD17B10
(E249Q +1 more)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GPathogenic
HSD17B10
Single nucleotide variant
(synonymous variant +1 more)
HSD10 mitochondrial disease
GPathogenic
HSD17B10
(N247S +1 more)
Single nucleotide variant
(missense variant)
HSD10 mitochondrial disease
GPathogenic
HSD17B10
(L122V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HSD17B10
(R130C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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