ClinVar (all) for Orgtrack (Select 507896) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1727243	NM_001031748.4(REDIC1):c.233_234insTT (p.Met78fs)	REDIC1 (M78fs)	Insertion (frameshift variant +1 more)	Spermatogenic Failure	GPathogenic
Select item 1343822	NM_006687.4(ACTL7A):c.149_150del (p.Glu50fs)	ACTL7A (E50fs)	Microsatellite (frameshift variant)	Male infertility with normal semen parameters	GPathogenic
Select item 1332898	NM_001017975.6(HFM1):c.[2487_2491del;3490C>T]	HFM1 (K829fs +1 more)	Microsatellite (frameshift variant +2 more)	Spermatogenic failure 4	GPathogenic
Select item 1332897	NM_001017975.6(HFM1):c.[2562_2563del;4126del]	HFM1 (E856fs +1 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1332896	NM_001017975.6(HFM1):c.1472T>C (p.Leu491Pro)	HFM1 (L491P)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1332895	NM_001017975.6(HFM1):c.1355G>A (p.Arg452Gln)	HFM1 (R452Q)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1013608	NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs)	ZSWIM7 (C78fs)	Deletion (frameshift variant)	Ovarian dysgenesis 10	GLikely pathogenic
Select item 992824	NM_174978.3(C14orf39):c.1180-3C>G	C14orf39	Single nucleotide variant (intron variant)	Spermatogenic failure 52 +1 more	GPathogenic
Select item 992823	NM_174978.3(C14orf39):c.958G>T (p.Glu320Ter)	C14orf39 (E320*)	Single nucleotide variant (nonsense)	Spermatogenic failure 52 +1 more	GPathogenic
Select item 992822	NM_174978.3(C14orf39):c.204_205del (p.His68fs)	C14orf39 (H68fs)	Deletion (frameshift variant)	Spermatogenic failure 52 +3 more	GPathogenic