19139[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 471397	NC_000001.10:g.(?_46654371)_(46663513_?)dup	POMGNT1, TSPAN1	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 3028708	NM_017739.4(POMGNT1):c.*551A>G	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GLikely benign
Select item 553241	NM_017739.4(POMGNT1):c.*531C>T	POMGNT1, TSPAN1 (Q743*)	Single nucleotide variant (nonsense +1 more)	Muscle eye brain disease	GUncertain significance
Select item 554543	NM_017739.4(POMGNT1):c.*513del	TSPAN1, POMGNT1 (L737fs)	Deletion (frameshift variant +1 more)	Muscle eye brain disease	GUncertain significance
Select item 1704770	NM_017739.4(POMGNT1):c.*502C>T	TSPAN1, POMGNT1 (T703I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 550470	NM_017739.4(POMGNT1):c.*500G>A	POMGNT1, TSPAN1 (W732*)	Single nucleotide variant (nonsense +1 more)	Muscle eye brain disease	GUncertain significance
Select item 554758	NM_017739.4(POMGNT1):c.*499G>A	POMGNT1, TSPAN1 (W732*)	Single nucleotide variant (nonsense +1 more)	Muscle eye brain disease	GUncertain significance
Select item 1209779	NM_017739.4(POMGNT1):c.*457C>T	POMGNT1, TSPAN1 (A718V)	Single nucleotide variant (3 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +3 more	GUncertain significance
Select item 297532	NM_017739.4(POMGNT1):c.*451C>T	TSPAN1, POMGNT1 (A716V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 555405	NM_017739.4(POMGNT1):c.404_405dup	POMGNT1, TSPAN1 (A701fs)	Duplication (frameshift variant +1 more)	Muscle eye brain disease	GUncertain significance
Select item 558144	NM_017739.4(POMGNT1):c.335_361del	POMGNT1, TSPAN1	Deletion (inframe_deletion +1 more)	Muscle eye brain disease	GUncertain significance
Select item 1701106	NM_017739.4(POMGNT1):c.*347G>A	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3033701	NM_017739.4(POMGNT1):c.*302A>G	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	POMGNT1-related disorder	GLikely benign
Select item 3028713	NM_017739.4(POMGNT1):c.*295G>A	POMGNT1, TSPAN1 (G634D +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 876536	NM_017739.4(POMGNT1):c.*221G>A	POMGNT1, TSPAN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876537	NM_017739.4(POMGNT1):c.*207G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +1 more	GUncertain significance
Select item 873654	NM_017739.4(POMGNT1):c.*34G>A	TSPAN1, POMGNT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +2 more	GConflicting classifications of pathogenicity
Select item 557754	NM_017739.4(POMGNT1):c.30_33del	POMGNT1, TSPAN1	Deletion (3 prime UTR variant +1 more)	Muscle eye brain disease	GUncertain significance
Select item 978968	NM_017739.4(POMGNT1):c.*11del	POMGNT1, TSPAN1 (G657fs)	Deletion (frameshift variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 554892	NM_017739.4(POMGNT1):c.*5TCC[1]	POMGNT1, TSPAN1 (P656del)	Microsatellite (inframe_deletion +1 more)	Muscle eye brain disease	GUncertain significance
Select item 989704	NM_017739.4(POMGNT1):c.*2A>T	POMGNT1, TSPAN1 (R653S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1620917	NM_017739.4(POMGNT1):c.1980A>C (p.Thr660=)	POMGNT1, TSPAN1 (M652L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 285069	NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile)	POMGNT1, TSPAN1 (T660I +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GUncertain significance
Select item 2945329	NM_017739.4(POMGNT1):c.1977G>A (p.Gln659=)	POMGNT1, TSPAN1 (D651N)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1339913	NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter)	TSPAN1, POMGNT1 (Q516* +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 557715	NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup)	POMGNT1, TSPAN1	Duplication (inframe_insertion)	Muscle eye brain disease	GUncertain significance
Select item 1986610	NM_017739.4(POMGNT1):c.1970C>T (p.Pro657Leu)	POMGNT1, TSPAN1 (P635L +2 more)	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1318491	NM_017739.4(POMGNT1):c.1961C>T (p.Pro654Leu)	POMGNT1, TSPAN1 (P511L +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1084678	NM_017739.4(POMGNT1):c.1959C>T (p.Ala653=)	POMGNT1, TSPAN1 (P645S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1542853	NM_017739.4(POMGNT1):c.1956A>G (p.Gly652=)	TSPAN1, POMGNT1 (S644G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1100990	NM_017739.4(POMGNT1):c.1953G>A (p.Glu651=)	POMGNT1, TSPAN1 (G643R)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 3308898	NM_017739.4(POMGNT1):c.1950G>T (p.Glu650Asp)	POMGNT1, TSPAN1 (G642* +3 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1347160	NM_017739.4(POMGNT1):c.1950G>C (p.Glu650Asp)	POMGNT1, TSPAN1 (E507D +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 1086648	NM_017739.4(POMGNT1):c.1950G>A (p.Glu650=)	TSPAN1, POMGNT1 (G642R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1320927	NM_017739.4(POMGNT1):c.1948G>A (p.Glu650Lys)	POMGNT1, TSPAN1 (E507K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 554700	NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn)	POMGNT1, TSPAN1 (K649N +3 more)	Single nucleotide variant (nonsense +1 more)	Muscle eye brain disease	GUncertain significance
Select item 1498997	NM_017739.4(POMGNT1):c.1945A>C (p.Lys649Gln)	POMGNT1, TSPAN1 (K506Q +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 1329043	NM_017739.4(POMGNT1):c.1943dup (p.Glu650fs)	POMGNT1, TSPAN1 (E507fs +3 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2005306	NM_017739.4(POMGNT1):c.1939C>T (p.Pro647Ser)	POMGNT1, TSPAN1 (P504S +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 1357663	NM_017739.4(POMGNT1):c.1939C>G (p.Pro647Ala)	POMGNT1, TSPAN1 (P625A +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1385265	NM_017739.4(POMGNT1):c.1936C>T (p.Pro646Ser)	POMGNT1, TSPAN1 (P503S +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 1653174	NM_017739.4(POMGNT1):c.1935G>A (p.Glu645=)	POMGNT1, TSPAN1 (A637T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 289586	NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln)	POMGNT1, TSPAN1 (G636A +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GUncertain significance
Select item 2934077	NM_017739.4(POMGNT1):c.1932G>A (p.Leu644=)	POMGNT1, TSPAN1 (G636R)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1118132	NM_017739.4(POMGNT1):c.1930C>T (p.Leu644=)	TSPAN1, POMGNT1 (P635L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1093257	NM_017739.4(POMGNT1):c.1929C>T (p.Phe643=)	POMGNT1, TSPAN1 (P635S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 56596	NM_017739.4(POMGNT1):c.1928del (p.Phe643fs)	POMGNT1, TSPAN1 (F500fs +3 more)	Deletion (frameshift variant)	Muscle eye brain disease	GLikely pathogenic
Select item 289590	NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)	POMGNT1, TSPAN1 (F643V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more	GUncertain significance
Select item 2945791	NM_017739.4(POMGNT1):c.1926T>A (p.Ile642=)	POMGNT1, TSPAN1 (F634I)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 586373	NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe)	POMGNT1, TSPAN1 (I642F +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +3 more	GUncertain significance
Select item 448109	NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val)	POMGNT1, TSPAN1 (I642V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1091496	NM_017739.4(POMGNT1):c.1923A>G (p.Pro641=)	POMGNT1, TSPAN1 (N633D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 288627	NM_017739.4(POMGNT1):c.1923A>C (p.Pro641=)	POMGNT1, TSPAN1 (N633H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 661391	NM_017739.4(POMGNT1):c.1919C>T (p.Thr640Ile)	POMGNT1, TSPAN1 (T497I +2 more)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 2924652	NM_017739.4(POMGNT1):c.1917C>T (p.Val639=)	POMGNT1, TSPAN1 (H631Y)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1131917	NM_017739.4(POMGNT1):c.1914A>C (p.Ser638=)	POMGNT1, TSPAN1 (S630R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1122246	NM_017739.4(POMGNT1):c.1914A>T (p.Ser638=)	POMGNT1, TSPAN1 (S630C)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 1398313	NM_017739.4(POMGNT1):c.1913C>T (p.Ser638Leu)	POMGNT1, TSPAN1 (S616L +2 more)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 856846	NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=)	TSPAN1, POMGNT1 (L629V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 283761	NM_017739.4(POMGNT1):c.1911C>T (p.Pro637=)	TSPAN1, POMGNT1 (L629F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 652677	NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu)	POMGNT1, TSPAN1 (P615L +2 more)	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 1519300	NM_017739.4(POMGNT1):c.1906C>T (p.Pro636Ser)	POMGNT1, TSPAN1 (P636S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 556807	NM_017739.4(POMGNT1):c.1905del (p.Lys635fs)	POMGNT1, TSPAN1 (K492fs +3 more)	Deletion (frameshift variant)	Muscle eye brain disease	GLikely pathogenic
Select item 1391978	NM_017739.4(POMGNT1):c.1898T>A (p.Val633Glu)	POMGNT1, TSPAN1 (S624R +3 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 1042568	NM_017739.4(POMGNT1):c.1897G>A (p.Val633Met)	POMGNT1, TSPAN1 (V633M +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 56595	NM_017739.4(POMGNT1):c.1896-1G>C	POMGNT1, TSPAN1	Single nucleotide variant (splice acceptor variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	GLikely pathogenic
Select item 1655524	NM_017739.4(POMGNT1):c.1896-4C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2946666	NM_017739.4(POMGNT1):c.1896-5C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1654809	NM_017739.4(POMGNT1):c.1896-10A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1117169	NM_017739.4(POMGNT1):c.1896-10A>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2150012	NM_017739.4(POMGNT1):c.1896-11T>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 2150013	NM_017739.4(POMGNT1):c.1896-13A>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GLikely benign
Select item 1943823	NM_017739.4(POMGNT1):c.1896-18C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1661451	NM_017739.4(POMGNT1):c.1896-18C>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1284753	NM_017739.4(POMGNT1):c.1896-19T>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1614746	NM_017739.4(POMGNT1):c.1896-20T>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 257665	NM_017739.4(POMGNT1):c.1895+30A>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 554192	NM_017739.4(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT	POMGNT1, TSPAN1	Insertion (intron variant)	Muscle eye brain disease	GLikely benign
Select item 2950947	NM_017739.4(POMGNT1):c.1895+19C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2936384	NM_017739.4(POMGNT1):c.1895+11C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 2953956	NM_017739.4(POMGNT1):c.1895+9C>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 1652707	NM_017739.4(POMGNT1):c.1895+9C>G	POMGNT1, TSPAN1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 56594	NM_017739.4(POMGNT1):c.1895+5_1895+8del	POMGNT1, TSPAN1	Microsatellite (intron variant +1 more)	Muscle eye brain disease	GLikely pathogenic
Select item 557018	NM_017739.4(POMGNT1):c.1895+1G>C	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more	GPathogenic/Likely pathogenic
Select item 56593	NM_017739.4(POMGNT1):c.1895+1G>T	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Myopathy caused by variation in POMGNT1 +7 more	GPathogenic/Likely pathogenic
Select item 56592	NM_017739.4(POMGNT1):c.1895+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (intron variant +1 more)	Muscular dystrophy-dystroglycanopathy +4 more	GPathogenic/Likely pathogenic
Select item 280928	NM_017739.4(POMGNT1):c.1895C>G (p.Ser632Ter)	POMGNT1, TSPAN1 (S632* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +2 more	GConflicting classifications of pathogenicity
Select item 2921369	NM_017739.4(POMGNT1):c.1890C>T (p.Pro630=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 873655	NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)	POMGNT1, TSPAN1 (P487R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2199024	NM_017739.4(POMGNT1):c.1888C>T (p.Pro630Ser)	POMGNT1, TSPAN1 (P487S +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 2022298	NM_017739.4(POMGNT1):c.1887C>G (p.Ser629=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 471404	NM_017739.4(POMGNT1):c.1880C>T (p.Pro627Leu)	POMGNT1, TSPAN1 (P627L +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GUncertain significance
Select item 873656	NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +2 more	GConflicting classifications of pathogenicity
Select item 643942	NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile)	POMGNT1, TSPAN1 (V483I +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GUncertain significance
Select item 56591	NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	POMGNT1, TSPAN1 (V483fs +2 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 76 +4 more	GPathogenic/Likely pathogenic
Select item 1139152	NM_017739.4(POMGNT1):c.1872G>C (p.Val624=)	POMGNT1, TSPAN1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2O +1 more	GLikely benign
Select item 969691	NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu)	POMGNT1, TSPAN1 (M623L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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