"Clinical Genetics, Academic Medical Center"[submitter] AND "POMGNT1"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284753	NM_017739.4(POMGNT1):c.1896-19T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 167524	NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)	POMGNT1, TSPAN1 (M480V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76 +5 more	GBenign
Select item 281057	NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	POMGNT1, TSPAN1 (V504I +2 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 130004	NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GBenign/Likely benign
Select item 284940	NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)	TSPAN1, POMGNT1	Single nucleotide variant (synonymous variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more	GConflicting classifications of pathogenicity
Select item 95761	NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 76 +7 more	GBenign
Select item 257664	NM_017739.4(POMGNT1):c.120+13C>T	POMGNT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +4 more	GConflicting classifications of pathogenicity

ClinVar