ClinVar for Gene (Select 29954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370298	NM_013382.7(POMT2):c.1253+5G>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3366717	NM_013382.7(POMT2):c.1057G>T (p.Gly353Cys)	POMT2 (G353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3363105	NM_013382.7(POMT2):c.884C>A (p.Thr295Lys)	POMT2 (T295K)	Single nucleotide variant (missense variant)	POMT2-related disorder	GUncertain significance
Select item 3356434	NM_013382.7(POMT2):c.1682A>G (p.Asn561Ser)	POMT2 (N561S)	Single nucleotide variant (missense variant)	POMT2-related disorder	GUncertain significance
Select item 3347897	NM_013382.7(POMT2):c.567G>C (p.Leu189=)	POMT2	Single nucleotide variant (synonymous variant)	POMT2-related disorder	GLikely benign
Select item 3308905	NM_013382.7(POMT2):c.149G>A (p.Arg50Gln)	POMT2 (R50Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257442	NM_013382.7(POMT2):c.579C>T (p.Ile193=)	POMT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257441	NM_013382.7(POMT2):c.632T>A (p.Val211Asp)	POMT2 (V211D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257440	NM_013382.7(POMT2):c.1117-1G>C	POMT2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3251663	NM_013382.7(POMT2):c.1274G>A (p.Ser425Asn)	POMT2 (S425N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 3244013	NC_000014.8:g.(?_77757660)_(77763722_?)del	POMT2	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely pathogenic
Select item 3244012	NC_000014.8:g.(?_77743719)_(77772804_?)del	POMT2	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 3244011	NC_000014.8:g.(?_77757637)_(77757743_?)del	POMT2	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 3240199	NM_013382.7(POMT2):c.1958del (p.Pro653fs)	POMT2 (P653fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240198	NM_013382.7(POMT2):c.53_78dup (p.Arg27fs)	POMT2 (R27fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240196	NM_013382.7(POMT2):c.2144_2147+9delinsT	POMT2	Indel (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240195	NM_013382.7(POMT2):c.50_59del (p.Arg17fs)	POMT2 (R17fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240194	NM_013382.7(POMT2):c.436G>T (p.Gly146Ter)	POMT2 (G146*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3240193	NM_013382.7(POMT2):c.1819dup (p.Leu607fs)	POMT2 (L607fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2	GLikely pathogenic
Select item 3236446	NM_013382.7(POMT2):c.247T>A (p.Cys83Ser)	POMT2 (C83S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2	GUncertain significance
Select item 3216747	NM_013382.7(POMT2):c.641A>G (p.Asn214Ser)	POMT2 (N214S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216746	NM_013382.7(POMT2):c.364G>A (p.Gly122Arg)	POMT2 (G122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216745	NM_013382.7(POMT2):c.244A>G (p.Ile82Val)	POMT2 (I82V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3056622	NM_013382.7(POMT2):c.2038C>T (p.Leu680=)	POMT2	Single nucleotide variant (synonymous variant)	POMT2-related disorder	GLikely benign
Select item 3027339	NM_013382.7(POMT2):c.762G>A (p.Gly254=)	POMT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025197	NM_013382.7(POMT2):c.1891+220C>T	POMT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954561	NM_013382.7(POMT2):c.435_438dup (p.Phe147fs)	POMT2 (F147fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic/Likely pathogenic
Select item 2954487	NM_013382.7(POMT2):c.1332+10del	POMT2	Deletion (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2954317	NM_013382.7(POMT2):c.817-14G>C	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953990	NM_013382.7(POMT2):c.2130C>T (p.Leu710=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953928	NM_013382.7(POMT2):c.1767C>G (p.Val589=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953878	NM_013382.7(POMT2):c.1740A>C (p.Ser580=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953841	NM_013382.7(POMT2):c.923+8C>T	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953728	NM_013382.7(POMT2):c.1239A>C (p.Arg413=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953649	NM_013382.7(POMT2):c.923+12G>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953513	NM_013382.7(POMT2):c.2166T>C (p.Pro722=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953272	NM_013382.7(POMT2):c.1311T>G (p.Tyr437Ter)	POMT2 (Y437*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 2953260	NM_013382.7(POMT2):c.1785+17T>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953255	NM_013382.7(POMT2):c.1786-7T>C	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953211	NM_013382.7(POMT2):c.1184-12T>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2953039	NM_013382.7(POMT2):c.369T>C (p.Tyr123=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2952904	NM_013382.7(POMT2):c.903C>T (p.His301=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2952683	NM_013382.7(POMT2):c.639C>T (p.Tyr213=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2952617	NM_013382.7(POMT2):c.1007-11C>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2951899	NM_013382.7(POMT2):c.2032+14A>C	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2951659	NM_013382.7(POMT2):c.894T>C (p.Phe298=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2951642	NM_013382.7(POMT2):c.297T>C (p.Arg99=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2951635	NM_013382.7(POMT2):c.249-11G>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2951414	NM_013382.7(POMT2):c.1484+7C>T	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2951335	NM_013382.7(POMT2):c.383del (p.Leu128fs)	POMT2 (L128fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 2951289	NM_013382.7(POMT2):c.1635C>T (p.Ser545=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2951210	NM_013382.7(POMT2):c.249-19C>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2951206	NM_013382.7(POMT2):c.2082A>C (p.Ser694=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2950684	NM_013382.7(POMT2):c.2148-14G>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2950357	NM_013382.7(POMT2):c.1184-5G>T	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2950140	NM_013382.7(POMT2):c.923+20A>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2950119	NM_013382.7(POMT2):c.1539C>T (p.Asn513=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2950093	NM_013382.7(POMT2):c.657-4T>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2950035	NM_013382.7(POMT2):c.248+15G>T	LOC130056176, POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949834	NM_013382.7(POMT2):c.1668C>G (p.Leu556=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949661	NM_013382.7(POMT2):c.1967del (p.Leu656fs)	POMT2 (L656fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 2949522	NM_013382.7(POMT2):c.2074T>C (p.Leu692=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949358	NM_013382.7(POMT2):c.1116+17T>C	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949190	NM_013382.7(POMT2):c.2151C>T (p.Phe717=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949165	NM_013382.7(POMT2):c.2021dup (p.Ser674fs)	POMT2 (S674fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 2949112	NM_013382.7(POMT2):c.2121G>A (p.Leu707=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949101	NM_013382.7(POMT2):c.1206A>G (p.Pro402=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949092	NM_013382.7(POMT2):c.1007-17G>C	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949088	NM_013382.7(POMT2):c.547+10C>T	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949069	NM_013382.7(POMT2):c.717T>G (p.Ala239=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2949005	NM_013382.7(POMT2):c.249-16T>C	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2948798	NM_013382.7(POMT2):c.768C>T (p.Asn256=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2948648	NM_013382.7(POMT2):c.1261C>A (p.Arg421=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2948647	NM_013382.7(POMT2):c.2121G>C (p.Leu707=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2948144	NM_013382.7(POMT2):c.1231A>T (p.Ile411Phe)	POMT2 (I411F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 2948025	NM_013382.7(POMT2):c.2001C>G (p.Phe667Leu)	POMT2 (F667L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 2947915	NM_013382.7(POMT2):c.2033-11C>T	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2947689	NM_013382.7(POMT2):c.1119C>T (p.Val373=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2947674	NM_013382.7(POMT2):c.450C>T (p.Phe150=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2947612	NM_013382.7(POMT2):c.1891+12T>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2947607	NM_013382.7(POMT2):c.1577-19C>T	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2947470	NM_013382.7(POMT2):c.1746C>A (p.Val582=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2947297	NM_013382.7(POMT2):c.1654-15G>C	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2947244	NM_013382.7(POMT2):c.270A>C (p.Gly90=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2946996	NM_013382.7(POMT2):c.1926G>A (p.Gln642=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2946947	NM_013382.7(POMT2):c.6G>C (p.Pro2=)	LOC130056177, POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2946711	NM_013382.7(POMT2):c.1413_1414del (p.Arg473fs)	POMT2 (R473fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 2945843	NM_013382.7(POMT2):c.1117-17C>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2945745	NM_013382.7(POMT2):c.1108C>A (p.Gln370Lys)	POMT2 (Q370K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance
Select item 2945093	NM_013382.7(POMT2):c.1412_1413dup (p.Ser472fs)	POMT2 (S472fs)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GPathogenic
Select item 2944833	NM_013382.7(POMT2):c.219C>T (p.Phe73=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2944653	NM_013382.7(POMT2):c.1485-20G>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2944389	NM_013382.7(POMT2):c.1485-14T>C	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2944323	NM_013382.7(POMT2):c.411G>A (p.Glu137=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2944140	NM_013382.7(POMT2):c.2079C>T (p.Ala693=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2944048	NM_013382.7(POMT2):c.656+10T>A	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2943809	NM_013382.7(POMT2):c.1007-9T>G	POMT2	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2943798	NM_013382.7(POMT2):c.627C>T (p.Ser209=)	POMT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GLikely benign
Select item 2943696	NM_013382.7(POMT2):c.1117G>C (p.Val373Leu)	POMT2 (V373L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more	GUncertain significance

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