Related gene-specific medical variations for Gene (Select 222663) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342701	NM_152753.4(SCUBE3):c.2186dup (p.Leu730fs)	LOC126859661, SCUBE3 (L729fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3316745	NM_152753.4(SCUBE3):c.2094C>A (p.His698Gln)	LOC126859661, SCUBE3 (H697Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316743	NM_152753.4(SCUBE3):c.1939G>A (p.Gly647Ser)	LOC126859661, SCUBE3 (G646S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2591586	NM_152753.4(SCUBE3):c.2063C>T (p.Thr688Met)	LOC126859661, SCUBE3 (T688M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494988	NM_152753.4(SCUBE3):c.1976C>A (p.Thr659Asn)	LOC126859661, SCUBE3 (T658N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306930	NM_152753.4(SCUBE3):c.2159G>A (p.Arg720Gln)	LOC126859661, SCUBE3 (R719Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996779	NM_152753.4(SCUBE3):c.1557C>A (p.Cys519Ter)	SCUBE3 (C518* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 981659	NM_152753.4(SCUBE3):c.2239+1G>A	LOC126859661, SCUBE3	Single nucleotide variant (splice donor variant)	Abnormality of the dentition +3 more	GPathogenic
Select item 161817	NM_152753.4(SCUBE3):c.2462C>T (p.Pro821Leu)	SCUBE3 (P821L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance