"PreventionGenetics, part of Exact Sciences"[submitter] AND "POMK"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262020	NM_032237.5(POMK):c.114C>T (p.Leu38=)	POMK	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2149218	NM_032237.5(POMK):c.283-6T>C	POMK	Single nucleotide variant (intron variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GLikely benign
Select item 436703	NM_032237.5(POMK):c.373A>T (p.Met125Leu)	POMK (M125L)	Single nucleotide variant (missense variant)	POMK-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2634888	NM_032237.5(POMK):c.398_399del (p.His133fs)	POMK (H133fs)	Deletion (frameshift variant)	POMK-related disorder	GLikely pathogenic
Select item 436700	NM_032237.5(POMK):c.565A>G (p.Ile189Val)	POMK (I189V)	Single nucleotide variant (missense variant)	POMK-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 761753	NM_032237.5(POMK):c.588T>C (p.Pro196=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +2 more	GLikely benign
Select item 2635081	NM_032237.5(POMK):c.615dup (p.Asn206fs)	POMK (N206fs)	Duplication (frameshift variant)	POMK-related disorder	GLikely pathogenic
Select item 262021	NM_032237.5(POMK):c.624G>C (p.Leu208=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +3 more	GBenign
Select item 1131798	NM_032237.5(POMK):c.633A>C (p.Thr211=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GLikely benign
Select item 509336	NM_032237.5(POMK):c.687C>T (p.Asp229=)	POMK	Single nucleotide variant (synonymous variant)	POMK-related disorder +4 more	GLikely benign
Select item 389688	NM_032237.5(POMK):c.886A>G (p.Ile296Val)	POMK (I296V)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +3 more	GLikely benign
Select item 474187	NM_032237.5(POMK):c.1006G>A (p.Asp336Asn)	POMK (D336N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign