"OMIM"[submitter] AND "SUN5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 268048	NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys)	SUN5 (R356C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 268052	NM_080675.4(SUN5):c.851C>G (p.Ser284Ter)	SUN5 (S284*)	Single nucleotide variant (nonsense)	Spermatogenic failure 16	GPathogenic
Select item 268047	NM_080675.4(SUN5):c.824C>T (p.Thr275Met)	SUN5 (T275M)	Single nucleotide variant (missense variant)	Spermatogenic failure 16	GPathogenic
Select item 268051	NM_080675.4(SUN5):c.781G>A (p.Val261Met)	SUN5 (V261M)	Single nucleotide variant (missense variant)	Spermatogenic failure 16	GPathogenic
Select item 268049	NM_080675.4(SUN5):c.485T>A (p.Met162Lys)	SUN5 (M162K)	Single nucleotide variant (missense variant)	Spermatogenic failure 16	GPathogenic
Select item 268050	NM_080675.4(SUN5):c.381del (p.Val128fs)	SUN5 (V128fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar