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Links from MedGen

Items: 1 to 100 of 213

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFIX
(T228fs +5 more)
Deletion
(frameshift variant)
Malan overgrowth syndrome
GPathogenic
NFIX
(F107fs +5 more)
Duplication
(frameshift variant)
Malan overgrowth syndrome
GUncertain significance
NFIX
(W22R +4 more)
Single nucleotide variant
(missense variant +1 more)
Malan overgrowth syndrome
GLikely pathogenic
NFIX
Single nucleotide variant
(splice acceptor variant)
Marshall-Smith syndrome
+1 more
Gnot provided
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
(V100fs +5 more)
Deletion
(frameshift variant)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GBenign
NFIX
(A30G +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(N249D +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(S244C +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(I172fs +5 more)
Deletion
(frameshift variant)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(E401* +6 more)
Single nucleotide variant
(nonsense)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
Deletion
(inframe_deletion)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(M149T +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(R217L +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(G309R +5 more)
Single nucleotide variant
(missense variant +1 more)
Marshall-Smith syndrome
+1 more
GUncertain significance
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
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GBenign
NFIX
Deletion
(intron variant)
Marshall-Smith syndrome
+1 more
GBenign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(N247S +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
(P386L +6 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
(T217K +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(G161E +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+2 more
GUncertain significance
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+2 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron 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
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
Single nucleotide variant
(synonymous variant)
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
(G370R +6 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
(intron variant)
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)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(W16fs)
Microsatellite
(intron variant +1 more)
Marshall-Smith syndrome
+1 more
GUncertain significance
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
(synonymous variant)
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
GUncertain significance
NFIX
(L392P +6 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(L163* +5 more)
Single nucleotide variant
(nonsense)
Malan overgrowth syndrome
GLikely pathogenic
NFIX
(V100fs +5 more)
Deletion
(frameshift variant)
Malan overgrowth syndrome
GLikely pathogenic
NFIX
(L120R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NFIX
(A256V +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(R100fs +5 more)
Duplication
(frameshift variant)
Malan overgrowth syndrome
GLikely pathogenic
NFIX
Duplication
Malan overgrowth syndrome
GUncertain significance
NFIX
(L32P +5 more)
Single nucleotide variant
(missense variant)
Malan overgrowth syndrome
GPathogenic
NFIX
(G250R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NFIX
Deletion
(splice donor variant)
Malan overgrowth syndrome
+1 more
GUncertain significance
NFIX
(E19fs +5 more)
Duplication
(frameshift variant)
Malan overgrowth syndrome
GLikely pathogenic
NFIX
Deletion
Marshall-Smith syndrome
+1 more
GLikely pathogenic
CACNA1A, IER2
+5 more
Duplication
Marshall-Smith syndrome
+3 more
GUncertain significance
NFIX
(K130fs +5 more)
Deletion
(frameshift variant)
Malan overgrowth syndrome
GPathogenic
NFIX
(A153V +5 more)
Single nucleotide variant
(missense variant)
Marshall-Smith syndrome
+2 more
GUncertain significance
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+3 more
GLikely benign
NFIX
(T19A)
Single nucleotide variant
(intron variant +1 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(A3T)
Single nucleotide variant
(synonymous variant +3 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(E187* +5 more)
Single nucleotide variant
(nonsense)
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
GBenign
NFIX
(G431S +4 more)
Single nucleotide variant
(missense variant +1 more)
Marshall-Smith syndrome
+1 more
GUncertain significance
NFIX
(R7L)
Single nucleotide variant
(missense variant +3 more)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(Q155* +5 more)
Single nucleotide variant
(nonsense)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
(R128Q +5 more)
Single nucleotide variant
(missense variant)
Malan overgrowth syndrome
+1 more
GLikely pathogenic
NFIX
(A4T)
Single nucleotide variant
(missense variant +1 more)
Malan overgrowth syndrome
+1 more
GBenign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+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)
Malan overgrowth 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
GLikely benign
NFIX
Single nucleotide variant
(intron variant)
Marshall-Smith syndrome
+1 more
GLikely benign
NFIX
(V230fs +5 more)
Microsatellite
(frameshift variant)
Marshall-Smith syndrome
+1 more
GPathogenic
NFIX
Single nucleotide variant
(synonymous variant)
Malan overgrowth 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)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Malan overgrowth syndrome
+1 more
GBenign
NFIX
Single nucleotide variant
(intron variant +1 more)
Malan overgrowth syndrome
+1 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
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant)
Malan overgrowth syndrome
+1 more
GLikely benign
NFIX
Single nucleotide variant
(synonymous variant +1 more)
Marshall-Smith syndrome
+1 more
GLikely benign
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