"PreventionGenetics, part of Exact Sciences"[submitter] AND "KYAT1-SPO - ClinVar - NCBI

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Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059891	NM_016390.4(SPOUT1):c.1106T>C (p.Ile369Thr)	KYAT1-SPOUT1, SPOUT1 (I369T +1 more)	Single nucleotide variant (missense variant +1 more)	SPOUT1-related disorder	GBenign
Select item 3041881	NM_016390.4(SPOUT1):c.1089C>G (p.Ala363=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant +1 more)	SPOUT1-related disorder	GBenign
Select item 3034153	NM_016390.4(SPOUT1):c.1062+8C>T	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (intron variant)	SPOUT1-related disorder	GLikely benign
Select item 3059826	NM_016390.4(SPOUT1):c.891C>T (p.Ala297=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant +1 more)	SPOUT1-related disorder	GBenign
Select item 3039768	NM_016390.4(SPOUT1):c.534C>T (p.Pro178=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant +1 more)	SPOUT1-related disorder	GLikely benign
Select item 3043525	NM_016390.4(SPOUT1):c.508+5C>T	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (intron variant)	SPOUT1-related disorder	GLikely benign
Select item 3059446	NM_016390.4(SPOUT1):c.458+6G>C	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (intron variant)	SPOUT1-related disorder	GBenign
Select item 3053485	NM_016390.4(SPOUT1):c.418G>A (p.Val140Ile)	KYAT1-SPOUT1, SPOUT1 (V140I +1 more)	Single nucleotide variant (missense variant +1 more)	SPOUT1-related disorder	GBenign
Select item 3059239	NM_016390.4(SPOUT1):c.389C>G (p.Thr130Arg)	KYAT1-SPOUT1, SPOUT1 (T130R +1 more)	Single nucleotide variant (missense variant +1 more)	SPOUT1-related disorder	GBenign
Select item 3038672	NM_016390.4(SPOUT1):c.369-15TC[5]	KYAT1-SPOUT1, SPOUT1	Microsatellite (intron variant)	SPOUT1-related disorder	GLikely benign
Select item 3041960	NM_016390.4(SPOUT1):c.270G>A (p.Pro90=)	KYAT1-SPOUT1, SPOUT1	Single nucleotide variant (synonymous variant +1 more)	SPOUT1-related disorder	GBenign
Select item 547052	NM_016390.3(SPOUT1):c.102dup (p.Trp35Metfs)	KYAT1-SPOUT1, SPOUT1 (W35fs)	Duplication (frameshift variant)	SPOUT1-related disorder +1 more	GConflicting classifications of pathogenicity