"SPEF2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036780	NM_024867.4(SPEF2):c.277G>A (p.Ala93Thr)	SPEF2 (A93T)	Single nucleotide variant (missense variant)	SPEF2-related condition	GLikely benign
Select item 769650	NM_024867.4(SPEF2):c.1633C>T (p.Pro545Ser)	SPEF2 (P545S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 3034024	NM_024867.4(SPEF2):c.1795C>T (p.Gln599Ter)	SPEF2 (Q599*)	Single nucleotide variant (nonsense)	SPEF2-related condition	GLikely pathogenic
Select item 2588286	NM_024867.4(SPEF2):c.3611G>T (p.Ser1204Ile)	SPEF2 (S1204I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3055617	NM_024867.4(SPEF2):c.3799A>T (p.Met1267Leu)	SPEF2 (M1267L)	Single nucleotide variant (missense variant)	SPEF2-related condition	GLikely benign
Select item 724729	NM_024867.4(SPEF2):c.3829A>G (p.Met1277Val)	SPEF2 (M1277V)	Single nucleotide variant (missense variant)	SPEF2-related condition +1 more	GLikely benign
Select item 2633110	NM_024867.4(SPEF2):c.3949+1G>T	SPEF2	Single nucleotide variant (splice donor variant)	SPEF2-related condition	GLikely pathogenic
Select item 2655402	NM_024867.4(SPEF2):c.4247A>G (p.Tyr1416Cys)	SPEF2 (Y1416C)	Single nucleotide variant (missense variant)	SPEF2-related condition +1 more	GLikely benign
Select item 3037048	NM_024867.4(SPEF2):c.4513A>G (p.Asn1505Asp)	SPEF2 (N1505D)	Single nucleotide variant (missense variant)	SPEF2-related condition	GLikely benign