ClinVar for MedGen (Select 1794184) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028901	NM_005273.4(GNB2):c.803A>T (p.Asn268Ile)	GNB2 (N268I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GLikely pathogenic
Select item 2429882	NM_005273.4(GNB2):c.284T>C (p.Leu95Pro)	GNB2 (L95P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GLikely pathogenic
Select item 1805976	NM_005273.4(GNB2):c.784C>T (p.Leu262Phe)	GNB2 (L262F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GUncertain significance
Select item 1217307	NM_005273.4(GNB2):c.266A>C (p.Lys89Thr)	GNB2 (K89T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GPathogenic
Select item 1217306	NM_005273.4(GNB2):c.265A>G (p.Lys89Glu)	GNB2 (K89E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GPathogenic
Select item 1217305	NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)	GNB2 (A73T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies	GPathogenic/Likely pathogenic
Select item 1013609	NM_005273.4(GNB2):c.229G>T (p.Gly77Trp)	GNB2 (G77W)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 977754	NM_005273.4(GNB2):c.229G>A (p.Gly77Arg)	GNB2 (G77R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and dysmorphic facies +2 more	GConflicting classifications of pathogenicity