"GeneDx"[submitter] AND "POMK"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 59807	GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3	CHRNA6, CHRNB3 +34 more	Copy number gain	See cases	GBenign
Select item 387812	NM_032237.5(POMK):c.-222G>T	POMK	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 420190	NM_032237.5(POMK):c.-209-1_-207del	POMK	Deletion (splice acceptor variant)	not provided	GBenign
Select item 1186478	NM_032237.5(POMK):c.-21-298T>G	POMK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 152192	GRCh38/hg38 8p11.21-11.1(chr8:43103284-43533090)x3	HGSNAT, LOC121740716 +8 more	Copy number gain	See cases	GBenign/Likely benign
Select item 1215652	NM_032237.5(POMK):c.-21-69A>G	POMK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 849427	NM_032237.5(POMK):c.10C>T (p.Gln4Ter)	POMK (Q4*)	Single nucleotide variant (nonsense)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GPathogenic/Likely pathogenic
Select item 432418	NM_032237.5(POMK):c.20A>G (p.Asn7Ser)	POMK (N7S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +2 more	GConflicting classifications of pathogenicity
Select item 817678	NM_032237.5(POMK):c.43dup (p.Arg15fs)	POMK (R15fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1312754	NM_032237.5(POMK):c.38C>T (p.Ala13Val)	POMK (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 705716	NM_032237.5(POMK):c.44G>A (p.Arg15Gln)	POMK (R15Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 508002	NM_032237.5(POMK):c.54G>A (p.Pro18=)	POMK	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1041532	NM_032237.5(POMK):c.82G>T (p.Ala28Ser)	POMK (A28S)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GUncertain significance
Select item 1306267	NM_032237.5(POMK):c.127A>G (p.Ile43Val)	POMK (I43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 474189	NM_032237.5(POMK):c.142T>C (p.Ser48Pro)	POMK (S48P)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GLikely benign
Select item 474190	NM_032237.5(POMK):c.254A>G (p.Lys85Arg)	POMK (K85R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1312144	NM_032237.5(POMK):c.256C>T (p.Arg86Cys)	POMK (R86C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1295449	NM_032237.5(POMK):c.282+34C>A	POMK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1296105	NM_032237.5(POMK):c.282+83G>A	POMK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2080362	NM_032237.5(POMK):c.419A>G (p.Tyr140Cys)	POMK (Y140C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1305121	NM_032237.5(POMK):c.432C>A (p.Asp144Glu)	POMK (D144E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 706643	NM_032237.5(POMK):c.541C>T (p.Leu181=)	POMK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 474193	NM_032237.5(POMK):c.564C>T (p.Ile188=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GLikely benign
Select item 436700	NM_032237.5(POMK):c.565A>G (p.Ile189Val)	POMK (I189V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 845543	NM_032237.5(POMK):c.599G>T (p.Arg200Leu)	POMK (R200L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 389687	NM_032237.5(POMK):c.618C>T (p.Asn206=)	POMK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 262021	NM_032237.5(POMK):c.624G>C (p.Leu208=)	POMK	Single nucleotide variant (synonymous variant)	Limb-girdle muscular dystrophy due to POMK deficiency +3 more	GBenign
Select item 509336	NM_032237.5(POMK):c.687C>T (p.Asp229=)	POMK	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 474196	NM_032237.5(POMK):c.704A>G (p.Asn235Ser)	POMK (N235S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 436701	NM_032237.5(POMK):c.714C>T (p.Ser238=)	POMK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1806636	NM_032237.5(POMK):c.721C>G (p.Leu241Val)	POMK (L241V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 541241	NM_032237.5(POMK):c.760G>A (p.Val254Met)	POMK (V254M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 382926	NM_032237.5(POMK):c.795C>T (p.Asp265=)	POMK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 474197	NM_032237.5(POMK):c.882G>A (p.Gly294=)	POMK	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +2 more	GLikely benign
Select item 389688	NM_032237.5(POMK):c.886A>G (p.Ile296Val)	POMK (I296V)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 474198	NM_032237.5(POMK):c.902T>C (p.Met301Thr)	POMK (M301T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 474199	NM_032237.5(POMK):c.910T>C (p.Phe304Leu)	POMK (F304L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 280444	NM_032237.5(POMK):c.917dup (p.Leu306fs)	POMK (L306fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 474187	NM_032237.5(POMK):c.1006G>A (p.Asp336Asn)	POMK (D336N)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +3 more	GBenign/Likely benign
Select item 474188	NM_032237.5(POMK):c.1013T>G (p.Leu338Arg)	POMK (L338R)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy due to POMK deficiency +2 more	GLikely benign
Select item 508003	NM_032237.5(POMK):c.1023C>T (p.Ala341=)	POMK	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1289760	NM_032237.5(POMK):c.*193del	POMK	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1280655	NM_032237.5(POMK):c.*237dup	POMK	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1246562	NM_032237.5(POMK):c.*260G>A	POMK	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 49