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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX37
(P610L)
Single nucleotide variant
(missense variant)
46,XY sex reversal 11
GUncertain significance
LHCGR, STON1-GTF2A1L
(L16Q)
Single nucleotide variant
(missense variant +1 more)
46,XY sex reversal 11
GUncertain significance
DHX37
(S626L)
Single nucleotide variant
(missense variant)
46,XY sex reversal 11
GLikely pathogenic
DHX37
(M96I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+3 more
GBenign
DHX37
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+2 more
GBenign
DHX37
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+1 more
GBenign
DHX37
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+2 more
GBenign
DHX37
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 11
+3 more
GBenign
DHX37
Single nucleotide variant
(intron variant)
46,XY sex reversal 11
+2 more
GBenign
DHX37
Single nucleotide variant
(intron variant)
46,XY sex reversal 11
+2 more
GBenign
DHX37
Single nucleotide variant
(synonymous variant)
46,XY sex reversal 11
+2 more
GBenign
DHX37
(S869G)
Single nucleotide variant
(missense variant)
46,XY sex reversal 11
+2 more
GBenign
DHX37
Single nucleotide variant
(intron variant)
46,XY sex reversal 11
+2 more
GBenign
DHX37
Single nucleotide variant
(intron variant)
46,XY sex reversal 11
+1 more
GBenign
DHX37
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+1 more
GBenign
DHX37
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+2 more
GBenign
DHX37
(R1081Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+2 more
GBenign
DHX37
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+2 more
GBenign
DHX37
(V329I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+2 more
GConflicting classifications of pathogenicity
DHX37
(V986M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+2 more
GUncertain significance
DHX37
(R674Q)
Single nucleotide variant
(missense variant)
46,XY sex reversal 11
GPathogenic
DHX37
(S595F)
Single nucleotide variant
(missense variant)
46,XY sex reversal 11
GPathogenic
DHX37
(R674W)
Single nucleotide variant
(missense variant)
46,XY sex reversal 11
+1 more
GLikely pathogenic
DHX37
(R308Q)
Single nucleotide variant
(missense variant)
46,XY sex reversal 11
+1 more
GPathogenic
DHX37
(T304M)
Single nucleotide variant
(missense variant)
46,XY sex reversal 11
GPathogenic
DHX37
Inversion
(missense variant)
46,XY sex reversal 11
GUncertain significance
DHX37
(R487H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
+2 more
GConflicting classifications of pathogenicity
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