ClinVar for MedGen (Select 1684830) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362456	NM_024867.4(SPEF2):c.3063G>C (p.Glu1021Asp)	SPEF2 (E1021D)	Single nucleotide variant (missense variant)	Spermatogenic failure 43	GUncertain significance
Select item 2582765	NM_024867.4(SPEF2):c.1379A>G (p.His460Arg)	SPEF2 (H460R)	Single nucleotide variant (missense variant)	Spermatogenic failure 43	GUncertain significance
Select item 1273350	NM_024867.4(SPEF2):c.2914+19T>G	SPEF2	Single nucleotide variant (intron variant)	Spermatogenic failure 43 +1 more	GBenign
Select item 1262331	NM_024867.4(SPEF2):c.1167+46T>C	SPEF2	Single nucleotide variant (intron variant)	Spermatogenic failure 43 +1 more	GBenign
Select item 805992	NM_024867.4(SPEF2):c.3240del (p.Phe1080fs)	SPEF2 (F1080fs)	Deletion (frameshift variant)	Spermatogenic failure 43	GPathogenic
Select item 805991	NM_024867.4(SPEF2):c.4952del (p.Val1651fs)	SPEF2 (V1651fs)	Deletion (frameshift variant)	Spermatogenic failure 43	GPathogenic
Select item 805990	NM_024867.4(SPEF2):c.2735del (p.Pro912fs)	SPEF2 (P912fs)	Deletion (frameshift variant)	Spermatogenic failure 43	GPathogenic
Select item 805989	NM_024867.4(SPEF2):c.4326dup (p.Val1443fs)	SPEF2 (V1443fs)	Duplication (frameshift variant)	Spermatogenic failure 43	GPathogenic
Select item 805988	NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter)	SPEF2 (E1368*)	Single nucleotide variant (nonsense)	Spermatogenic failure 43	GPathogenic
Select item 805987	NM_024867.4(SPEF2):c.1745-2A>G	SPEF2	Single nucleotide variant (splice acceptor variant)	Spermatogenic failure 43	GPathogenic
Select item 805986	NM_024867.4(SPEF2):c.13del (p.Leu5fs)	SPEF2 (L5fs)	Deletion (frameshift variant)	Spermatogenic failure 43	GPathogenic
Select item 769650	NM_024867.4(SPEF2):c.1633C>T (p.Pro545Ser)	SPEF2 (P545S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 727928	NM_024867.4(SPEF2):c.398G>A (p.Ser133Asn)	SPEF2 (S133N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 403481	NM_024867.4(SPEF2):c.3331-11T>C	SPEF2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 403479	NM_024867.4(SPEF2):c.2800G>C (p.Ala934Pro)	SPEF2 (A934P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 403478	NM_024867.4(SPEF2):c.2711C>T (p.Ala904Val)	SPEF2 (A904V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 403477	NM_024867.4(SPEF2):c.2142T>C (p.Asn714=)	SPEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 403473	NM_024867.4(SPEF2):c.861C>T (p.Asp287=)	SPEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 403472	NM_024867.4(SPEF2):c.579T>C (p.Ile193=)	SPEF2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 403471	NM_024867.4(SPEF2):c.211A>C (p.Asn71His)	SPEF2 (N71H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign

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Links from MedGen

Items: 20