ClinVar for MedGen (Select 1794269) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065745	NM_006979.3(SLC39A7):c.868C>T (p.Arg290Ter)	SLC39A7 (R165* +1 more)	Single nucleotide variant (nonsense)	Agammaglobulinemia 9, autosomal recessive	GLikely pathogenic
Select item 2584820	NM_006979.3(SLC39A7):c.1291G>A (p.Ala431Thr)	SLC39A7 (A431T +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 9, autosomal recessive	GUncertain significance
Select item 1507871	NM_006979.3(SLC39A7):c.568C>G (p.Pro190Ala)	SLC39A7 (P65A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1333092	NM_006979.3(SLC39A7):c.1184C>T (p.Thr395Ile)	SLC39A7 (T270I)	Single nucleotide variant (missense variant)	Agammaglobulinemia 9, autosomal recessive	GPathogenic
Select item 1333091	NM_006979.3(SLC39A7):c.1114C>T (p.Gln372Ter)	SLC39A7 (Q247*)	Single nucleotide variant (nonsense)	Agammaglobulinemia 9, autosomal recessive	GPathogenic
Select item 1333090	NM_006979.3(SLC39A7):c.650T>C (p.Leu217Pro)	SLC39A7 (L92P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1333089	NM_006979.3(SLC39A7):c.1087G>A (p.Glu363Lys)	SLC39A7 (E238K)	Single nucleotide variant (missense variant)	Agammaglobulinemia 9, autosomal recessive	GPathogenic

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