C3150418[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3221	NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	POMT2	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1207232	NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser)	POMT2 (G646S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +4 more	GUncertain significance
Select item 3218	NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	POMT2 (R638*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +5 more	GPathogenic
Select item 194965	NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)	POMT2 (V635I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GConflicting classifications of pathogenicity
Select item 448118	NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp)	POMT2 (R624W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GUncertain significance
Select item 582117	NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp)	POMT2 (R434W)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 663918	NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr)	POMT2 (S425T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 162597	NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)	POMT2 (R421W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +5 more	GConflicting classifications of pathogenicity
Select item 162595	NM_013382.7(POMT2):c.1183+14A>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more	GBenign/Likely benign
Select item 95532	NM_013382.7(POMT2):c.1106G>A (p.Arg369His)	POMT2	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 501800	NM_013382.7(POMT2):c.856C>T (p.Leu286Phe)	POMT2 (L286F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GUncertain significance
Select item 285619	NM_013382.7(POMT2):c.844C>T (p.Arg282Cys)	POMT2 (R282C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +5 more	GUncertain significance
Select item 285067	NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)	POMT2 (R99C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +5 more	GConflicting classifications of pathogenicity
Select item 95541	NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)	POMT2	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 497671	NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)	POMT2 (D77N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more	GConflicting classifications of pathogenicity
Select item 1393055	NM_013382.7(POMT2):c.118C>G (p.Arg40Gly)	POMT2 (R40G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N +3 more	GUncertain significance