ClinVar for MedGen (Select 18162) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445465	NM_005634.3(SOX3):c.64C>G (p.Arg22Gly)	LOC108281134, SOX3 (R22G)	Single nucleotide variant (missense variant)	See cases +2 more	GUncertain significance
Select item 2391262	NM_138435.4(FAM83F):c.671G>A (p.Arg224His)	FAM83F (R224H)	Single nucleotide variant (missense variant)	Abnormal sperm morphology +3 more	GUncertain significance
Select item 1330303	NM_001271862.2(PNLDC1):c.743G>A (p.Gly248Asp)	PNLDC1 (G237D +1 more)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +1 more	GLikely pathogenic
Select item 869115	NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu)	MSH4 (S754L)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +2 more	GPathogenic/Likely pathogenic
Select item 830043	NM_004798.4(KIF3B):c.1032A>T (p.Pro344=)	KIF3B	Single nucleotide variant (synonymous variant)	Oligospermia	Gassociation
Select item 816940	NM_002536.4(TBC1D25):c.4609C>T	TBC1D25	Single nucleotide variant	Oligospermia	GLikely pathogenic
Select item 374019	NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	HOXD13 (R274*)	Single nucleotide variant (nonsense)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 267936	46;XY;t(12;14)(q15;q13)mat		Translocation	Aphasia +14 more	GUncertain significance
Select item 267893	46;XY;t(20;22)(q13.3;q11.2)		Translocation	Decreased testicular size +5 more	GUncertain significance

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