ClinVar for MedGen (Select 815551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953265	NM_021971.4(GMPPB):c.618dup (p.Leu207fs)	GMPPB (L207fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GPathogenic
Select item 2952767	NM_021971.4(GMPPB):c.1046T>C (p.Ile349Thr)	GMPPB (I376T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2943156	NM_021971.4(GMPPB):c.221G>C (p.Arg74Pro)	GMPPB, LOC129936764 (R74P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2938036	NM_021971.4(GMPPB):c.260-13C>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2937875	NM_021971.4(GMPPB):c.654C>T (p.Asp218=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2936436	NM_021971.4(GMPPB):c.132_141del (p.Gly45fs)	GMPPB (G45fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GPathogenic
Select item 2936227	NM_021971.4(GMPPB):c.288A>G (p.Leu96=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 2933920	NM_021971.4(GMPPB):c.612G>A (p.Glu204=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2933314	NM_021971.4(GMPPB):c.211-13CT[3]	GMPPB, LOC129936764	Microsatellite (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2932266	NM_021971.4(GMPPB):c.21G>T (p.Val7=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2931587	NM_021971.4(GMPPB):c.561+18G>A	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2930007	NM_021971.4(GMPPB):c.150C>T (p.Ile50=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2929842	NM_021971.4(GMPPB):c.927C>A (p.Gly309=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2929720	NM_021971.4(GMPPB):c.586G>C (p.Glu196Gln)	GMPPB (E196Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
Select item 2928720	NM_021971.4(GMPPB):c.972A>G (p.Thr324=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 2924826	NM_021971.4(GMPPB):c.1071T>A (p.Arg357=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2923477	NM_021971.4(GMPPB):c.841G>A (p.Glu281Lys)	GMPPB (E281K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2922847	NM_021971.4(GMPPB):c.291C>T (p.Leu97=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2922019	NM_021971.4(GMPPB):c.211-20G>A	GMPPB, LOC129936764	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2432182	NM_021971.4(GMPPB):c.952-12C>T	GMPPB (P341S)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +3 more	GConflicting classifications of pathogenicity
Select item 2203395	NM_021971.4(GMPPB):c.338G>A (p.Cys113Tyr)	GMPPB (C113Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2200990	NM_021971.4(GMPPB):c.183G>C (p.Glu61Asp)	GMPPB (E61D)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
Select item 2200226	NM_021971.4(GMPPB):c.699G>A (p.Leu233=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2199452	NM_021971.4(GMPPB):c.561+13C>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2197144	NM_021971.4(GMPPB):c.768+13C>T	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2174419	NM_021971.4(GMPPB):c.614G>A (p.Gly205Glu)	GMPPB (G205E)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2171940	NM_021971.4(GMPPB):c.340G>T (p.Asp114Tyr)	GMPPB (D114Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2167048	NM_021971.4(GMPPB):c.840C>T (p.Val280=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2155659	NM_021971.4(GMPPB):c.402+16T>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2151975	NM_021971.4(GMPPB):c.854_855del (p.Cys285fs)	GMPPB (C285fs)	Microsatellite (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
Select item 2150147	NM_021971.4(GMPPB):c.1082G>A (p.Ter361=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2149997	NM_021971.4(GMPPB):c.191T>G (p.Met64Arg)	GMPPB (M64R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2142474	NM_021971.4(GMPPB):c.244G>A (p.Glu82Lys)	GMPPB, LOC129936764 (E82K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2125713	NM_021971.4(GMPPB):c.951G>A (p.Trp317Ter)	GMPPB (W317*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
Select item 2124435	NM_021971.4(GMPPB):c.640+15C>T	GMPPB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 2118188	NM_021971.4(GMPPB):c.584A>G (p.Lys195Arg)	GMPPB (K195R)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2112171	NM_021971.4(GMPPB):c.312C>A (p.Phe104Leu)	GMPPB (F104L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2110706	NM_021971.4(GMPPB):c.641-11C>T	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2106071	NM_021971.4(GMPPB):c.805G>T (p.Gly269Cys)	GMPPB (G269C)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2104833	NM_021971.4(GMPPB):c.68A>G (p.Lys23Arg)	GMPPB (K23R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 2099219	NM_021971.4(GMPPB):c.714G>T (p.Gln238His)	GMPPB (Q238H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +3 more	GUncertain significance
Select item 2092307	NM_021971.4(GMPPB):c.106C>T (p.His36Tyr)	GMPPB (H36Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2090803	NM_021971.4(GMPPB):c.259+19G>A	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2088256	NM_021971.4(GMPPB):c.260-7C>T	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2077534	NM_021971.4(GMPPB):c.952-17C>T	GMPPB (A339V)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2070938	NM_021971.4(GMPPB):c.972dup (p.Val325fs)	GMPPB (V325fs +1 more)	Duplication (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
Select item 2064081	NM_021971.4(GMPPB):c.503C>A (p.Ser168Tyr)	GMPPB (S168Y)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2061544	NM_021971.4(GMPPB):c.1026C>T (p.Ser342=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2059385	NM_021971.4(GMPPB):c.506A>G (p.Asn169Ser)	GMPPB (N169S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2052918	NM_021971.4(GMPPB):c.615G>A (p.Gly205=)	GMPPB	Single nucleotide variant (synonymous variant)	GMPPB-related disorder +3 more	GLikely benign
Select item 2052273	NM_021971.4(GMPPB):c.524T>C (p.Met175Thr)	GMPPB (M175T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2046969	NM_021971.4(GMPPB):c.129+3A>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2044436	NM_021971.4(GMPPB):c.36G>A (p.Thr12=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2041001	NM_021971.4(GMPPB):c.472C>T (p.Arg158Trp)	GMPPB (R158W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2038026	NM_021971.4(GMPPB):c.264G>A (p.Gly88=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 2034950	NM_021971.4(GMPPB):c.641-14A>C	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 2020319	NM_021971.4(GMPPB):c.600T>C (p.Ile200=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2017362	NM_021971.4(GMPPB):c.65C>T (p.Pro22Leu)	GMPPB (P22L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely pathogenic
Select item 2005724	NM_021971.4(GMPPB):c.952-15T>C	GMPPB (Y340H)	Single nucleotide variant (intron variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2005071	NM_021971.4(GMPPB):c.951G>T (p.Trp317Cys)	GMPPB (W317C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 2001208	NM_021971.4(GMPPB):c.225del (p.Ser76fs)	GMPPB, LOC129936764 (S76fs)	Deletion (frameshift variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GPathogenic
Select item 1995229	NM_021971.4(GMPPB):c.1036C>T (p.His346Tyr)	GMPPB (H373Y +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
Select item 1993137	NM_021971.4(GMPPB):c.259+3C>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1986737	NM_021971.4(GMPPB):c.832G>A (p.Val278Met)	GMPPB (V278M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1984539	NM_021971.4(GMPPB):c.952-5del	GMPPB (L343fs)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1974984	NM_021971.4(GMPPB):c.935G>C (p.Cys312Ser)	GMPPB (C312S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1951016	NM_021971.4(GMPPB):c.211-17G>T	GMPPB, LOC129936764	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1948644	NM_021971.4(GMPPB):c.1051_1054dup (p.Ser352Ter)	GMPPB (S352* +1 more)	Duplication (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
Select item 1934571	NM_021971.4(GMPPB):c.188A>C (p.Glu63Ala)	GMPPB (E63A)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1933245	NM_021971.4(GMPPB):c.584AGG[1] (p.Glu196del)	GMPPB (E196del)	Microsatellite (inframe_deletion)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
Select item 1920781	NM_021971.4(GMPPB):c.862C>T (p.Arg288Trp)	GMPPB (R288W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +3 more	GConflicting classifications of pathogenicity
Select item 1918668	NM_021971.4(GMPPB):c.1027G>A (p.Val343Met)	GMPPB (V370M +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
Select item 1913907	NM_021971.4(GMPPB):c.129+6A>C	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1896248	NM_021971.4(GMPPB):c.813T>C (p.Asn271=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1717376	NM_021971.4(GMPPB):c.296A>G (p.Glu99Gly)	GMPPB (E99G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1715757	NM_021971.4(GMPPB):c.170_171delinsTC (p.Ser57Phe)	GMPPB (S57F)	Indel (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1714775	NM_021971.4(GMPPB):c.271G>A (p.Ala91Thr)	GMPPB (A91T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1713815	NM_021971.4(GMPPB):c.929G>T (p.Trp310Leu)	GMPPB (W310L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1665747	NM_021971.4(GMPPB):c.130-13T>C	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1659854	NM_021971.4(GMPPB):c.619C>T (p.Leu207=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1652600	NM_021971.4(GMPPB):c.769-20_769-17dup	GMPPB	Duplication (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1648764	NM_021971.4(GMPPB):c.210+20C>A	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1642849	NM_021971.4(GMPPB):c.594C>T (p.Phe198=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 1637096	NM_021971.4(GMPPB):c.130-16G>T	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1636123	NM_021971.4(GMPPB):c.1050C>A (p.Gly350=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1633158	NM_021971.4(GMPPB):c.672C>T (p.Asp224=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1628045	NM_021971.4(GMPPB):c.828T>C (p.Pro276=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1624857	NM_021971.4(GMPPB):c.403-10T>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1617878	NM_021971.4(GMPPB):c.903C>G (p.Ser301=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 1606642	NM_021971.4(GMPPB):c.465C>T (p.Arg155=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1606139	NM_021971.4(GMPPB):c.697C>T (p.Leu233=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 1604928	NM_021971.4(GMPPB):c.786C>T (p.Ile262=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 1599566	NM_021971.4(GMPPB):c.211-15dup	LOC129936764, GMPPB	Duplication (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GBenign
Select item 1581519	NM_021971.4(GMPPB):c.640+10G>C	GMPPB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 1580773	NM_021971.4(GMPPB):c.30T>C (p.Tyr10=)	GMPPB	Single nucleotide variant (synonymous variant)	GMPPB-related disorder +4 more	GLikely benign
Select item 1579678	NM_021971.4(GMPPB):c.618G>A (p.Gln206=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1578892	NM_021971.4(GMPPB):c.211-20G>C	GMPPB, LOC129936764	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1578238	NM_021971.4(GMPPB):c.129+17G>A	GMPPB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 1573566	NM_021971.4(GMPPB):c.561+14A>G	GMPPB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GLikely benign
Select item 1570903	NM_021971.4(GMPPB):c.801C>T (p.Ser267=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign

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