"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260149	NM_001077365.2(POMT1):c.428-21T>C	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign
Select item 95466	NM_001077365.2(POMT1):c.699+52C>T	POMT1 (Q197* +3 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more	GBenign/Likely benign
Select item 288794	NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe)	POMT1 (L285F +9 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +5 more	GUncertain significance
Select item 167519	NM_001077365.2(POMT1):c.876T>C (p.Thr292=)	POMT1 (S287P)	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign
Select item 95471	NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)	POMT1 (V327I +9 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +5 more	GBenign/Likely benign
Select item 211944	NM_001077365.2(POMT1):c.986+9A>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GConflicting classifications of pathogenicity
Select item 167520	NM_001077365.2(POMT1):c.1047T>C (p.Asp349=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign
Select item 95451	NM_001077365.2(POMT1):c.1082+16G>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more	GBenign
Select item 281283	NM_001077365.2(POMT1):c.1149C>T (p.His383=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 95455	NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)	POMT1 (D433E +9 more)	Single nucleotide variant (missense variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign
Select item 95459	NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)	POMT1 (R522K +9 more)	Single nucleotide variant (missense variant +2 more)	Walker-Warburg congenital muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 130008	NM_001077365.2(POMT1):c.1692G>A (p.Arg564=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +4 more	GBenign
Select item 284058	NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	FAM157B-related condition +5 more	GBenign/Likely benign
Select item 95460	NM_001077365.2(POMT1):c.2003+13C>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more	GBenign