ClinVar Miner

List of variants in gene combination GMPPB, LOC129936764 reported as uncertain significance for muscular dystrophy-dystroglycanopathy, type C

Included ClinVar conditions (26):

Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76
Autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive limb-girdle muscular dystrophy type 2U
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Limb-girdle muscular dystrophy due to POMK deficiency
Muscle eye brain disease; Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
Muscular dystrophy-dystroglycanopathy, type C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_021971.4(GMPPB):c.215G>C (p.Gly72Ala)	rs1245162935	0.00001
NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu)	rs1245162935
NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr)	rs1553692045
NM_021971.4(GMPPB):c.221G>C (p.Arg74Pro)
NM_021971.4(GMPPB):c.244G>A (p.Glu82Lys)
NM_021971.4(GMPPB):c.247C>G (p.Pro83Ala)	rs2080451480

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