ClinVar for MedGen (Select 1804291) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693569	NM_001378211.1(SHOC1):c.4466G>A (p.Arg1489His)	SHOC1 (R1351H +2 more)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 75	GPathogenic
Select item 1693568	NM_001378211.1(SHOC1):c.2170G>A (p.Ala724Thr)	SHOC1 (A621T +1 more)	Single nucleotide variant (missense variant +2 more)	Spermatogenic failure 75	GPathogenic
Select item 1693567	NM_001378211.1(SHOC1):c.1656del (p.Asp553fs)	SHOC1 (D450fs +2 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 75	GPathogenic
Select item 1693566	NM_001378211.1(SHOC1):c.1386del (p.Leu464fs)	SHOC1 (L361fs +2 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 75	GPathogenic
Select item 1693565	NM_001378211.1(SHOC1):c.423_424del (p.Leu142fs)	SHOC1 (L142fs +1 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 75	GPathogenic
Select item 1693564	NM_001378211.1(SHOC1):c.1774C>T (p.Arg592Ter)	SHOC1 (R489* +1 more)	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 75	GPathogenic
Select item 1693563	NM_001378211.1(SHOC1):c.989del (p.Leu330fs)	SHOC1 (L227fs +2 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 75	GPathogenic

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