ClinVar for MedGen (Select 332193) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245240	NC_000009.11:g.(?_134385419)_(134386714_?)del	POMT1	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GPathogenic
Select item 3245239	NC_000009.11:g.(?_134390793)_(134398493_?)del	POMT1	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GPathogenic
Select item 3245238	NC_000009.11:g.(?_134398299)_(134398493_?)del	POMT1	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GPathogenic
Select item 2954542	NM_001077365.2(POMT1):c.987-5C>T	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2954391	NM_001077365.2(POMT1):c.2115G>C (p.Ser705=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2953857	NM_001077365.2(POMT1):c.888A>G (p.Pro296=)	POMT1 (T291A)	Single nucleotide variant (synonymous variant +3 more)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2953568	NM_001077365.2(POMT1):c.427+17T>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2953333	NM_001077365.2(POMT1):c.1392G>C (p.Trp464Cys)	POMT1 (W347C +10 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely pathogenic
Select item 2953111	NM_001077365.2(POMT1):c.972_973insCT (p.Thr325fs)	POMT1 (T173fs +9 more)	Insertion (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2952965	NM_001077365.2(POMT1):c.1539C>T (p.Asp513=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2952789	NM_001077365.2(POMT1):c.2118A>T (p.Pro706=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2952640	NM_001077365.2(POMT1):c.432del (p.Asn144fs)	POMT1 (N114fs +3 more)	Deletion (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2952486	NM_001077365.2(POMT1):c.123-17G>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2952126	NM_001077365.2(POMT1):c.122+13_122+20dup	POMT1	Duplication (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2952003	NM_001077365.2(POMT1):c.122+15T>C	POMT1	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951679	NM_001077365.2(POMT1):c.280+20T>C	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951648	NM_001077365.2(POMT1):c.986+10T>C	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951641	NM_001077365.2(POMT1):c.1136_1137dup (p.Gln380fs)	POMT1 (Q326fs +10 more)	Duplication (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2951556	NM_001077365.2(POMT1):c.123-7T>C	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951530	NM_001077365.2(POMT1):c.699+76G>T	POMT1 (E205*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951491	NM_001077365.2(POMT1):c.1602G>C (p.Leu534=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951436	NM_001077365.2(POMT1):c.675G>A (p.Leu225=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951373	NM_001077365.2(POMT1):c.427+20C>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951312	NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)	POMT1 (P392fs +10 more)	Duplication (frameshift variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2951161	NM_001077365.2(POMT1):c.1847_1865dup (p.Gly624fs)	POMT1 (G529fs +11 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2951117	NM_001077365.2(POMT1):c.699+45G>T	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951107	NM_001077365.2(POMT1):c.105C>A (p.Thr35=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2950938	NM_001077365.2(POMT1):c.1206T>C (p.His402=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2950583	NM_001077365.2(POMT1):c.195G>A (p.Gly65=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2950514	NM_001077365.2(POMT1):c.1486+9G>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2950444	NM_001077365.2(POMT1):c.1176-19C>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2950281	NM_001077365.2(POMT1):c.428-11C>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2950063	NM_001077365.2(POMT1):c.1871_1872del (p.Gly624fs)	POMT1 (G247fs +11 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2949972	NM_001077365.2(POMT1):c.93del (p.Trp32fs)	POMT1 (W32fs)	Deletion (frameshift variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2949951	NM_001077365.2(POMT1):c.539+2T>C	POMT1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely pathogenic
Select item 2949697	NM_001077365.2(POMT1):c.1211dup (p.Glu405fs)	POMT1 (E373fs +10 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2949391	NM_001077365.2(POMT1):c.1699-20C>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2949356	NM_001077365.2(POMT1):c.428-7G>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2949046	NM_001077365.2(POMT1):c.1869T>C (p.Gly623=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2948855	NM_001077365.2(POMT1):c.428-8T>C	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2948623	NM_001077365.2(POMT1):c.412C>T (p.Leu138=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2948465	NM_001077365.2(POMT1):c.2022C>T (p.Ser674=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2948174	NM_001077365.2(POMT1):c.2028C>T (p.Phe676=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2948069	NM_001077365.2(POMT1):c.1977del (p.Gln660fs)	POMT1 (Q606fs +11 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 2947919	NM_001077365.2(POMT1):c.260dup (p.Leu87fs)	POMT1 (L87fs +2 more)	Duplication (frameshift variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2947892	NM_001077365.2(POMT1):c.229+8T>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2947888	NM_001077365.2(POMT1):c.855+12G>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2947887	NM_001077365.2(POMT1):c.280+16C>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2947783	NM_001077365.2(POMT1):c.1510C>A (p.Arg504=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2947751	NM_001077365.2(POMT1):c.1826-13C>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2947323	NM_001077365.2(POMT1):c.281-8T>C	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2947080	NM_001077365.2(POMT1):c.2003+12_2003+13delinsAT	POMT1	Indel (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GUncertain significance
Select item 2947073	NM_001077365.2(POMT1):c.856-17T>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2946606	NM_001077365.2(POMT1):c.744G>A (p.Leu248=)	POMT1 (G243S)	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2946532	NM_001077365.2(POMT1):c.357C>T (p.Ala119=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2946505	NM_001077365.2(POMT1):c.2003+20A>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2946459	NM_001077365.2(POMT1):c.1667del (p.Asn556fs)	POMT1 (N426fs +11 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2946365	NM_001077365.2(POMT1):c.699+74G>T	POMT1 (G204V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2946349	NM_001077365.2(POMT1):c.435T>A (p.Ala145=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2946235	NM_001077365.2(POMT1):c.1699-10del	POMT1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2946187	NM_001077365.2(POMT1):c.673C>T (p.Leu225=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2946034	NM_001077365.2(POMT1):c.123-11T>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2945924	NM_001077365.2(POMT1):c.885G>A (p.Gln295=)	POMT1 (A290T)	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2945835	NM_001077365.2(POMT1):c.252C>G (p.Gly84=)	POMT1 (Q49E)	Single nucleotide variant (synonymous variant +4 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2945725	NM_001077365.2(POMT1):c.2046C>G (p.Ala682=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2945647	NM_001077365.2(POMT1):c.1767C>G (p.Ala589=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2945436	NM_001077365.2(POMT1):c.1082+14_1082+33del	POMT1	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2945309	NM_001077365.2(POMT1):c.333G>A (p.Ala111=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2945212	NM_001077365.2(POMT1):c.1273-2A>G	POMT1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely pathogenic
Select item 2945189	NM_001077365.2(POMT1):c.856-6T>C	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2945105	NM_001077365.2(POMT1):c.540-4C>G	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2944584	NM_001077365.2(POMT1):c.281-16G>A	POMT1 (V59M)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2944473	NM_001077365.2(POMT1):c.230-17T>C	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2944469	NM_001077365.2(POMT1):c.559del (p.Trp187fs)	POMT1 (W187fs +4 more)	Deletion (frameshift variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GPathogenic
Select item 2944437	NM_001077365.2(POMT1):c.1740G>C (p.Ser580=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2944399	NM_001077365.2(POMT1):c.229+7G>T	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2943816	NM_001077365.2(POMT1):c.1458G>A (p.Trp486Ter)	POMT1 (W508* +10 more)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GPathogenic
Select item 2943717	NM_001077365.2(POMT1):c.606-14T>C	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2943607	NM_001077365.2(POMT1):c.2103C>T (p.Asp701=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2943325	NM_001077365.2(POMT1):c.1683G>A (p.Leu561=)	POMT1	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2943090	NM_001077365.2(POMT1):c.280+7G>A	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2942855	NM_001077365.2(POMT1):c.1825+11C>G	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2942845	NM_001077365.2(POMT1):c.1486+18C>T	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2942813	NM_001077365.2(POMT1):c.2004-10A>G	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2942762	NM_001077365.2(POMT1):c.1825+9C>A	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2942761	NM_001077365.2(POMT1):c.987-4A>G	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2942487	NM_001077365.2(POMT1):c.699+81G>A	POMT1	Single nucleotide variant (synonymous variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2942394	NM_001077365.2(POMT1):c.1366-12_1366-11dup	POMT1	Duplication (non-coding transcript variant +1 more)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2942262	NM_001077365.2(POMT1):c.2004-5T>G	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2941976	NM_001077365.2(POMT1):c.240A>G (p.Gly80=)	POMT1 (R45G)	Single nucleotide variant (synonymous variant +4 more)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2941784	NM_001077365.2(POMT1):c.1365+11T>C	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2941065	NM_001077365.2(POMT1):c.1044A>G (p.Lys348=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2940618	NM_001077365.2(POMT1):c.1020A>G (p.Gln340=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2940119	NM_001077365.2(POMT1):c.897G>A (p.Val299=)	POMT1 (G294S)	Single nucleotide variant (synonymous variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2940102	NM_001077365.2(POMT1):c.423T>C (p.Leu141=)	POMT1	Single nucleotide variant (synonymous variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2940032	NM_001077365.2(POMT1):c.539+20T>G	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2939763	NM_001077365.2(POMT1):c.699+39T>C	POMT1	Single nucleotide variant (synonymous variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2939702	NM_001077365.2(POMT1):c.936G>A (p.Gly312=)	POMT1 (E307K)	Single nucleotide variant (synonymous variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2939700	NM_001077365.2(POMT1):c.1585-16C>T	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2939282	NM_001077365.2(POMT1):c.1487-18C>T	POMT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign

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