ClinVar for MedGen (Select 1648302) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709524	NM_052961.4(SLC26A8):c.2031T>G (p.Tyr677Ter)	SLC26A8 (Y572* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 3	GUncertain significance
Select item 1686930	NM_052961.4(SLC26A8):c.212G>T (p.Arg71Leu)	SLC26A8 (R71L)	Single nucleotide variant (missense variant)	Spermatogenic failure 3	GPathogenic
Select item 1686929	NM_052961.4(SLC26A8):c.1664del (p.Ile555fs)	SLC26A8 (I450fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 3	GPathogenic
Select item 1686928	NM_052961.4(SLC26A8):c.290T>C (p.Leu97Pro)	SLC26A8 (L97P)	Single nucleotide variant (missense variant)	Spermatogenic failure 3	GPathogenic
Select item 50911	NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys)	SLC26A8 (R954C +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 3	GPathogenic
Select item 50910	NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys)	SLC26A8 (E812K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 50909	NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln)	SLC26A8 (R87Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 3	GPathogenic

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