ClinVar for MedGen (Select 1782253) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065012	NM_152753.4(SCUBE3):c.1252C>T (p.Arg418Trp)	SCUBE3 (R417W +1 more)	Single nucleotide variant (missense variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GUncertain significance
Select item 3065011	NM_152753.4(SCUBE3):c.2795G>A (p.Arg932Gln)	SCUBE3 (R931Q +1 more)	Single nucleotide variant (missense variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GUncertain significance
Select item 2664229	NM_152753.4(SCUBE3):c.799A>C (p.Met267Leu)	SCUBE3 (M266L +1 more)	Single nucleotide variant (missense variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GUncertain significance
Select item 1679305	NM_152753.4(SCUBE3):c.406T>C (p.Cys136Arg)	SCUBE3 (C136R)	Single nucleotide variant (missense variant)	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GUncertain significance
Select item 996761	NG_050574.1:g.29310_309865delins27802_27890inv	SCUBE3	Indel	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2	GPathogenic
Select item 981662	NM_152753.4(SCUBE3):c.2785C>T (p.Arg929Ter)	SCUBE3 (R928* +1 more)	Single nucleotide variant (nonsense)	Short stature +3 more	GPathogenic
Select item 981660	NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr)	SCUBE3 (I814T +1 more)	Single nucleotide variant (missense variant)	Short stature +4 more	GPathogenic/Likely pathogenic
Select item 981659	NM_152753.4(SCUBE3):c.2239+1G>A	LOC126859661, SCUBE3	Single nucleotide variant (splice donor variant)	Abnormal facial shape +3 more	GPathogenic
Select item 981658	NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter)	SCUBE3 (R572* +1 more)	Single nucleotide variant (nonsense)	Short stature +3 more	GPathogenic
Select item 981655	NM_152753.4(SCUBE3):c.291C>G (p.Cys97Trp)	SCUBE3 (C97W)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic