"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130056177" - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162596	NM_013382.7(POMT2):c.-47_-44del	LOC130056177, POMT2	Deletion (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 314563	NM_013382.7(POMT2):c.-56G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 314564	NM_013382.7(POMT2):c.-64G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 886738	NM_013382.7(POMT2):c.-113G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314565	NM_013382.7(POMT2):c.-124G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 314566	NM_013382.7(POMT2):c.-128C>T	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 888001	NM_013382.7(POMT2):c.-136G>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314567	NM_013382.7(POMT2):c.-142C>T	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314568	NM_013382.7(POMT2):c.-149C>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 888002	NM_013382.7(POMT2):c.-172C>A	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 888003	NM_013382.7(POMT2):c.-176C>G	POMT2, LOC130056177	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2N	GUncertain significance
Select item 314569	NM_013382.7(POMT2):c.-199C>T	LOC130056177, POMT2	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive	GUncertain significance