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Links from MedGen

Items: 1 to 100 of 148

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFIX
(D479fs +9 more)
Deletion
(frameshift variant)
Marshall-Smith syndrome
GLikely pathogenic
NFIX
(A256V +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(C115* +5 more)
Single nucleotide variant
(nonsense)
Marshall-Smith syndrome
GLikely pathogenic
NFIX
(A317fs +6 more)
Duplication
(frameshift variant)
Marshall-Smith syndrome
GPathogenic
NFIX
Deletion
(splice donor variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Deletion
Marshall-Smith syndrome
+1 more
GLikely pathogenic
CACNA1A, IER2
+5 more
Duplication
Marshall-Smith syndrome
+3 more
GUncertain significance
NFIX
(T19A)
Single nucleotide variant
(missense variant +1 more)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
(A3T)
Single nucleotide variant
(synonymous variant +3 more)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
(E187* +5 more)
Single nucleotide variant
(nonsense)
Malan overgrowth syndrome
+1 more
GPathogenic
NFIX
Single nucleotide variant
(synonymous variant)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
(G431S +4 more)
Single nucleotide variant
(missense variant +1 more)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
(R7L)
Single nucleotide variant
(missense variant +3 more)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
(Q155* +5 more)
Single nucleotide variant
(nonsense)
Malan overgrowth syndrome
+1 more
GPathogenic
NFIX
(A4T)
Single nucleotide variant
(missense variant +1 more)
Malan overgrowth syndrome
+1 more
GBenign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NFIX
(E16K +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GLikely pathogenic
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Microsatellite
(inframe_insertion)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(V230fs +5 more)
Microsatellite
(frameshift variant)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(P149R +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GBenign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GBenign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(A371fs +5 more)
Deletion
(frameshift variant +1 more)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(V23L +4 more)
Single nucleotide variant
(missense variant +1 more)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Deletion
(intron variant)
Marshall-Smith syndrome
+1 more
GBenign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(G8R)
Single nucleotide variant
(synonymous variant +3 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(V134A +5 more)
Single nucleotide variant
(missense variant)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(synonymous variant)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
(H339N +6 more)
Indel
(missense variant)
Malan overgrowth syndrome
+1 more
GLikely pathogenic
NFIX
Duplication
(inframe_insertion +1 more)
Marshall-Smith syndrome
GUncertain significance
NFIX
(L29fs +5 more)
Deletion
(frameshift variant)
Malan overgrowth syndrome
+1 more
GPathogenic
NFIX
(A47fs +5 more)
Deletion
(frameshift variant)
Marshall-Smith syndrome
GPathogenic
NFIX
(Q9P)
Single nucleotide variant
(missense variant)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GBenign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(I210V +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+2 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Malan overgrowth syndrome
+1 more
GBenign
NFIX
(R358fs +5 more)
Deletion
(frameshift variant +1 more)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
(E69fs +5 more)
Duplication
(frameshift variant)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
Deletion
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
Single nucleotide variant
(intron variant)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
Deletion
(inframe_deletion)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
(Q149* +5 more)
Single nucleotide variant
(nonsense)
Malan overgrowth syndrome
+1 more
GPathogenic
NFIX
(Q261fs +5 more)
Duplication
(frameshift variant)
Marshall-Smith syndrome
GLikely pathogenic
NFIX
(K117E +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NFIX
Deletion
(inframe_deletion)
Marshall-Smith syndrome
GLikely pathogenic
NFIX
Single nucleotide variant
(splice donor variant)
Marshall-Smith syndrome
GPathogenic
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GBenign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(T17M)
Single nucleotide variant
(missense variant +1 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(R108Q +5 more)
Single nucleotide variant
(missense variant)
Malan overgrowth syndrome
+1 more
GPathogenic
NFIX
(Y32* +4 more)
Single nucleotide variant
(nonsense +1 more)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
(C102W +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(W119R +5 more)
Single nucleotide variant
(missense variant)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
(R27fs +5 more)
Deletion
(frameshift variant)
Malan overgrowth syndrome
+1 more
GPathogenic/Likely pathogenic
NFIX
(T375S +6 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(intron variant)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
(F25fs +4 more)
Deletion
(frameshift variant +1 more)
Marshall-Smith syndrome
GPathogenic
NFIX
(I475fs +9 more)
Deletion
(frameshift variant)
Marshall-Smith syndrome
GLikely pathogenic
NFIX
(S339L +6 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
GUncertain significance
NFIX
Deletion
(splice acceptor variant +1 more)
Marshall-Smith syndrome
GPathogenic
NFIX
Deletion
(splice acceptor variant +1 more)
Marshall-Smith syndrome
GPathogenic
NFIX
(R485fs +9 more)
Deletion
(frameshift variant)
Marshall-Smith syndrome
GPathogenic
NFIX
(S467P +4 more)
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(R30L +4 more)
Single nucleotide variant
(missense variant +1 more)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
(F18fs +4 more)
Duplication
(frameshift variant +1 more)
Malan overgrowth syndrome
+1 more
GPathogenic
NFIX
(S365L +6 more)
Single nucleotide variant
(missense variant)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
Deletion
Malan overgrowth syndrome
+1 more
GPathogenic
NFIX
(T259fs +5 more)
Deletion
(frameshift variant)
Marshall-Smith syndrome
GPathogenic
NFIX
(Q109fs +5 more)
Deletion
(frameshift variant)
Marshall-Smith syndrome
GPathogenic
NFIX
Duplication
(intron variant)
Marshall-Smith syndrome
+1 more
GBenign/Likely benign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Malan overgrowth syndrome
+1 more
GLikely benign
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