25902[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1182260	NM_032806.6(POMGNT2):c.*152G>T	POMGNT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1222363	NM_032806.6(POMGNT2):c.*115C>A	POMGNT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 540499	NC_000003.11:g.(?_43121161)_(43122943_?)dup	POMGNT2	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 385243	NM_032806.6(POMGNT2):c.*2G>A	POMGNT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 473276	NM_032806.6(POMGNT2):c.1740G>A (p.Thr580=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 946818	NM_032806.6(POMGNT2):c.1739C>T (p.Thr580Met)	POMGNT2 (T580M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +2 more	GUncertain significance
Select item 2091473	NM_032806.6(POMGNT2):c.1729G>T (p.Val577Leu)	POMGNT2 (V577L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1107251	NM_032806.6(POMGNT2):c.1725G>A (p.Val575=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 951970	NM_032806.6(POMGNT2):c.1716_1717dup (p.Ala573fs)	POMGNT2 (A573fs)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 655021	NM_032806.6(POMGNT2):c.1716T>G (p.Phe572Leu)	POMGNT2 (F572L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 3216731	NM_032806.6(POMGNT2):c.1712C>T (p.Pro571Leu)	POMGNT2 (P571L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1059022	NM_032806.6(POMGNT2):c.1701CCT[1] (p.Leu569del)	POMGNT2 (L569del)	Microsatellite (inframe_deletion)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 2880044	NM_032806.6(POMGNT2):c.1705C>T (p.Leu569=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1986782	NM_032806.6(POMGNT2):c.1697A>G (p.Lys566Arg)	POMGNT2 (K566R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 655459	NM_032806.6(POMGNT2):c.1687A>G (p.Ile563Val)	POMGNT2 (I563V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 2161912	NM_032806.6(POMGNT2):c.1682G>A (p.Arg561His)	POMGNT2 (R561H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1010449	NM_032806.6(POMGNT2):c.1681C>T (p.Arg561Cys)	POMGNT2 (R561C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 +3 more	GUncertain significance
Select item 473275	NM_032806.6(POMGNT2):c.1669C>T (p.Leu557=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 540491	NM_032806.6(POMGNT2):c.1660A>G (p.Thr554Ala)	POMGNT2 (T554A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1104444	NM_032806.6(POMGNT2):c.1653G>A (p.Lys551=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 2102059	NM_032806.6(POMGNT2):c.1643A>G (p.Glu548Gly)	POMGNT2 (E548G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1462561	NM_032806.6(POMGNT2):c.1630C>G (p.His544Asp)	POMGNT2 (H544D)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1652487	NM_032806.6(POMGNT2):c.1621C>T (p.Leu541=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1425903	NM_032806.6(POMGNT2):c.1603G>A (p.Val535Met)	POMGNT2 (V535M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 262106	NM_032806.6(POMGNT2):c.1602C>T (p.Tyr534=)	POMGNT2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1121990	NM_032806.6(POMGNT2):c.1593G>A (p.Glu531=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1441775	NM_032806.6(POMGNT2):c.1591del (p.Glu531fs)	POMGNT2 (E531fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 2055345	NM_032806.6(POMGNT2):c.1587G>A (p.Gln529=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 2541158	NM_032806.6(POMGNT2):c.1580A>G (p.Gln527Arg)	POMGNT2 (Q527R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2856922	NM_032806.6(POMGNT2):c.1572G>A (p.Val524=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 2014747	NM_032806.6(POMGNT2):c.1570G>A (p.Val524Met)	POMGNT2 (V524M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1468814	NM_032806.6(POMGNT2):c.1568A>T (p.Glu523Val)	POMGNT2 (E523V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 834474	NM_032806.6(POMGNT2):c.1567G>A (p.Glu523Lys)	POMGNT2 (E523K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1058894	NM_032806.6(POMGNT2):c.1555G>T (p.Glu519Ter)	POMGNT2 (E519*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely pathogenic
Select item 1030056	NM_032806.6(POMGNT2):c.1555G>A (p.Glu519Lys)	POMGNT2 (E519K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 967077	NM_032806.6(POMGNT2):c.1553G>A (p.Arg518Lys)	POMGNT2 (R518K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1644185	NM_032806.6(POMGNT2):c.1551G>A (p.Val517=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 436371	NM_032806.6(POMGNT2):c.1540T>C (p.Tyr514His)	POMGNT2 (Y514H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241866	NM_032806.6(POMGNT2):c.1523T>G (p.Ile508Ser)	POMGNT2 (I508S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579783	NM_032806.6(POMGNT2):c.1514C>G (p.Ser505Cys)	POMGNT2 (S505C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2055124	NM_032806.6(POMGNT2):c.1510del (p.Val504fs)	POMGNT2 (V504fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GPathogenic
Select item 946809	NM_032806.6(POMGNT2):c.1507A>G (p.Thr503Ala)	POMGNT2 (T503A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1024264	NM_032806.6(POMGNT2):c.1504C>G (p.Leu502Val)	POMGNT2 (L502V)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1350906	NM_032806.6(POMGNT2):c.1502G>A (p.Arg501His)	POMGNT2 (R501H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1439584	NM_032806.6(POMGNT2):c.1501C>T (p.Arg501Cys)	POMGNT2 (R501C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1350919	NM_032806.6(POMGNT2):c.1495G>A (p.Glu499Lys)	POMGNT2 (E499K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1597826	NM_032806.6(POMGNT2):c.1494C>T (p.Ser498=)	POMGNT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2030167	NM_032806.6(POMGNT2):c.1489G>A (p.Ala497Thr)	POMGNT2 (A497T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 262105	NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +3 more	GBenign/Likely benign
Select item 2957171	NM_032806.6(POMGNT2):c.1479A>G (p.Ser493=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1529199	NM_032806.6(POMGNT2):c.1476G>A (p.Ala492=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1366680	NM_032806.6(POMGNT2):c.1466G>A (p.Arg489Gln)	POMGNT2 (R489Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 965908	NM_032806.6(POMGNT2):c.1465C>T (p.Arg489Trp)	POMGNT2 (R489W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1008414	NM_032806.6(POMGNT2):c.1459G>A (p.Glu487Lys)	POMGNT2 (E487K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 647775	NM_032806.6(POMGNT2):c.1457G>A (p.Arg486Gln)	POMGNT2 (R486Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 714078	NM_032806.6(POMGNT2):c.1455G>A (p.Val485=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 3216730	NM_032806.6(POMGNT2):c.1451A>C (p.Lys484Thr)	POMGNT2 (K484T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2038445	NM_032806.6(POMGNT2):c.1446A>C (p.Pro482=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 3308900	NM_032806.6(POMGNT2):c.1435G>A (p.Gly479Ser)	POMGNT2 (G479S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1593049	NM_032806.6(POMGNT2):c.1434C>T (p.Val478=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 2157921	NM_032806.6(POMGNT2):c.1419G>A (p.Lys473=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1145149	NM_032806.6(POMGNT2):c.1416G>A (p.Arg472=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 656115	NM_032806.6(POMGNT2):c.1415G>A (p.Arg472Gln)	POMGNT2 (R472Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1390646	NM_032806.6(POMGNT2):c.1414C>T (p.Arg472Trp)	POMGNT2 (R472W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1914429	NM_032806.6(POMGNT2):c.1409G>A (p.Gly470Glu)	POMGNT2 (G470E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1025516	NM_032806.6(POMGNT2):c.1406C>T (p.Pro469Leu)	POMGNT2 (P469L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 2984419	NM_032806.6(POMGNT2):c.1404G>A (p.Arg468=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 2158140	NM_032806.6(POMGNT2):c.1403G>A (p.Arg468Gln)	POMGNT2 (R468Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 473274	NM_032806.6(POMGNT2):c.1402C>T (p.Arg468Trp)	POMGNT2 (R468W)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 749046	NM_032806.6(POMGNT2):c.1392G>C (p.Val464=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 641229	NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met)	POMGNT2 (V464M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 509570	NM_032806.6(POMGNT2):c.1389C>T (p.Arg463=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +2 more	GLikely benign
Select item 432963	NM_032806.6(POMGNT2):c.1388G>A (p.Arg463His)	POMGNT2 (R463H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 654869	NM_032806.6(POMGNT2):c.1387C>T (p.Arg463Cys)	POMGNT2 (R463C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 1450409	NM_032806.6(POMGNT2):c.1385G>A (p.Arg462Gln)	POMGNT2 (R462Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 377356	NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu)	POMGNT2 (R462L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 386897	NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp)	POMGNT2 (R462W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +2 more	GBenign/Likely benign
Select item 1112208	NM_032806.6(POMGNT2):c.1380C>T (p.Thr460=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1092510	NM_032806.6(POMGNT2):c.1380C>A (p.Thr460=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1989285	NM_032806.6(POMGNT2):c.1368C>T (p.Ser456=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 2739984	NM_032806.6(POMGNT2):c.1365G>T (p.Pro455=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 262104	NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=)	POMGNT2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1916877	NM_032806.6(POMGNT2):c.1353G>C (p.Lys451Asn)	POMGNT2 (K451N)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1540646	NM_032806.6(POMGNT2):c.1350C>A (p.Thr450=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 664371	NM_032806.6(POMGNT2):c.1349C>G (p.Thr450Ser)	POMGNT2 (T450S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1506520	NM_032806.6(POMGNT2):c.1344G>A (p.Gln448=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1390754	NM_032806.6(POMGNT2):c.1334G>A (p.Arg445Gln)	POMGNT2 (R445Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1433161	NM_032806.6(POMGNT2):c.1333C>A (p.Arg445=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 37207	NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter)	POMGNT2 (R445*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GPathogenic
Select item 1102111	NM_032806.6(POMGNT2):c.1329C>T (p.Leu443=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 1055376	NM_032806.6(POMGNT2):c.1326G>A (p.Trp442Ter)	POMGNT2 (W442*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GPathogenic
Select item 964568	NM_032806.6(POMGNT2):c.1321G>A (p.Glu441Lys)	POMGNT2 (E441K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 1627268	NM_032806.6(POMGNT2):c.1320C>T (p.Pro440=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign
Select item 3216729	NM_032806.6(POMGNT2):c.1316A>C (p.Asn439Thr)	POMGNT2 (N439T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1015540	NM_032806.6(POMGNT2):c.1313G>T (p.Arg438Leu)	POMGNT2 (R438L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 580862	NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln)	POMGNT2 (R438Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 1011899	NM_032806.6(POMGNT2):c.1312C>G (p.Arg438Gly)	POMGNT2 (R438G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 937621	NM_032806.6(POMGNT2):c.1312C>T (p.Arg438Trp)	POMGNT2 (R438W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 951596	NM_032806.6(POMGNT2):c.1304T>C (p.Leu435Pro)	POMGNT2 (L435P)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 +1 more	GUncertain significance
Select item 1091687	NM_032806.6(POMGNT2):c.1296A>G (p.Pro432=)	POMGNT2	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GLikely benign

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