"Athena Diagnostics Inc"[submitter] AND "POMGNT1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586373	NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe)	POMGNT1, TSPAN1 (I642F +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 448109	NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val)	POMGNT1, TSPAN1 (I642V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 471403	NM_017739.4(POMGNT1):c.1867= (p.Met623=)	POMGNT1, TSPAN1 (V623M)	Single nucleotide variant (no sequence alteration)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GBenign
Select item 497582	NM_017739.4(POMGNT1):c.1786-6C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GConflicting classifications of pathogenicity
Select item 3997	NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)	POMGNT1, TSPAN1 (D556N +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 76 +7 more	GConflicting classifications of pathogenicity
Select item 502236	NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +5 more	GConflicting classifications of pathogenicity
Select item 281057	NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	POMGNT1, TSPAN1 (V504I +2 more)	Single nucleotide variant (missense variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +5 more	GConflicting classifications of pathogenicity
Select item 288113	NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)	POMGNT1, TSPAN1 (R485H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3992	NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	POMGNT1, TSPAN1 (R442C +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 162586	NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)	TSPAN1, POMGNT1 (T433M +2 more)	Single nucleotide variant (missense variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +5 more	GBenign/Likely benign
Select item 130004	NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more	GBenign/Likely benign
Select item 1106262	NM_017739.4(POMGNT1):c.1005T>A (p.Val335=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GLikely benign
Select item 56610	NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	POMGNT1, TSPAN1 (R311* +2 more)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GPathogenic
Select item 162588	NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)	POMGNT1, TSPAN1 (S280N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 774047	NM_017739.4(POMGNT1):c.735A>G (p.Pro245=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GLikely benign
Select item 95761	NM_017739.4(POMGNT1):c.681A>G (p.Lys227=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +7 more	GBenign
Select item 283314	NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more	GConflicting classifications of pathogenicity
Select item 507502	NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)	TSPAN1, POMGNT1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GConflicting classifications of pathogenicity
Select item 198222	NM_017739.4(POMGNT1):c.421-7C>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	POMGNT1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 448110	NM_017739.4(POMGNT1):c.415G>C (p.Ala139Pro)	POMGNT1, TSPAN1 (A139P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 501934	NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val)	POMGNT1, TSPAN1 (L120V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 423754	NM_017739.4(POMGNT1):c.355G>A (p.Val119Met)	POMGNT1, TSPAN1 (V119M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 76 +5 more	GUncertain significance
Select item 95759	NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)	POMGNT1 (V101I +1 more)	Single nucleotide variant (missense variant +1 more)	POMGNT1-related condition +7 more	GConflicting classifications of pathogenicity
Select item 290280	NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)	POMGNT1 (R90H +1 more)	Single nucleotide variant (missense variant +1 more)	Muscle eye brain disease +5 more	GConflicting classifications of pathogenicity

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Items: 24