ClinVar for MedGen (Select 1805977) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575046	NM_002184.4(IL6ST):c.1614G>T (p.Glu538Asp)	IL6ST (E206D +6 more)	Single nucleotide variant (missense variant +2 more)	Stuve-Wiedemann syndrome 2 +1 more	GUncertain significance
Select item 1432476	NM_025114.4(CEP290):c.5413C>T (p.Leu1805Phe)	CEP290 (L1805F)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome 2 +3 more	GUncertain significance
Select item 1357226	NM_014806.5(RUSC2):c.3983G>A (p.Cys1328Tyr)	CIMIP2B, RUSC2 (C1328Y +1 more)	Single nucleotide variant (missense variant +1 more)	Stuve-Wiedemann syndrome 2 +1 more	GUncertain significance
Select item 1341692	NM_002184.4(IL6ST):c.1699+4A>G	IL6ST	Single nucleotide variant (intron variant)	Stuve-Wiedemann syndrome 2	GPathogenic
Select item 635407	NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter)	IL6ST (R281* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 281250	NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	CEP290 (I364M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +14 more	GConflicting classifications of pathogenicity

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