C4518000[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 282

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 474013	NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met)	GMPPB (I386M +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
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 581597	NM_021971.4(GMPPB):c.1070G>A (p.Arg357His)	GMPPB (R384H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
Select item 1134065	NM_021971.4(GMPPB):c.1065G>A (p.Glu355=)	GMPPB	Single nucleotide variant (synonymous variant)	GMPPB-related condition +3 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 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 288746	NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)	GMPPB (G350S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +4 more	GConflicting classifications of pathogenicity
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 1508556	NM_021971.4(GMPPB):c.1039_1042dup (p.Ser348Ter)	GMPPB (S348* +1 more)	Duplication (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
Select item 847720	NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg)	GMPPB (K347R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
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 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 985743	NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu)	GMPPB (V343L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +4 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 391583	NM_021971.4(GMPPB):c.1017C>T (p.Asn339=)	GMPPB	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 835826	NM_021971.4(GMPPB):c.1016A>G (p.Asn339Ser)	GMPPB (N339S +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1087137	NM_021971.4(GMPPB):c.1014C>T (p.Leu338=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GLikely benign
Select item 541074	NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His)	GMPPB (Y337H +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 60540	NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)	GMPPB (D334N +1 more)	Single nucleotide variant (missense variant)	GMPPB-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 935158	NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr)	GMPPB (N333Y +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 60547	NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)	GMPPB (V330I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +5 more	GPathogenic/Likely pathogenic
Select item 1125891	NM_021971.4(GMPPB):c.987C>T (p.Asp329=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1537371	NM_021971.4(GMPPB):c.984G>A (p.Glu328=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1399587	NM_021971.4(GMPPB):c.982G>A (p.Glu328Lys)	GMPPB (E355K +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1568160	NM_021971.4(GMPPB):c.981T>C (p.Gly327=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +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 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 1497213	NM_021971.4(GMPPB):c.967G>T (p.Val323Leu)	GMPPB (V323L +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 429279	NM_021971.4(GMPPB):c.967G>A (p.Val323Met)	GMPPB (V350M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 737892	NM_021971.4(GMPPB):c.966C>T (p.Asn322=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 541079	NM_021971.4(GMPPB):c.956G>A (p.Arg319His)	GMPPB (R319H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 569923	NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys)	GMPPB (R319C +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely pathogenic
Select item 1155602	NM_021971.4(GMPPB):c.954A>G (p.Val318=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 570522	NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)	GMPPB (V318A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1366262	NM_021971.4(GMPPB):c.952-2A>G	GMPPB (E344G)	Single nucleotide variant (missense variant +1 more)	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 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 373160	NM_021971.4(GMPPB):c.952-14A>G	GMPPB (Y340C)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
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 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 1382479	NM_021971.4(GMPPB):c.951+18G>T	GMPPB	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 759627	NM_021971.4(GMPPB):c.951+9G>T	GMPPB	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 389060	NM_021971.4(GMPPB):c.951+9G>A	GMPPB	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +3 more	GLikely benign
Select item 1091172	NM_021971.4(GMPPB):c.951+7C>A	GMPPB (L320M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 1393828	NM_021971.4(GMPPB):c.940G>A (p.Val314Met)	GMPPB (V314M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 864638	NM_021971.4(GMPPB):c.940G>T (p.Val314Leu)	GMPPB (V314L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 715300	NM_021971.4(GMPPB):c.939C>T (p.Arg313=)	GMPPB	Single nucleotide variant (synonymous variant)	GMPPB-related condition +3 more	GLikely benign
Select item 1416512	NM_021971.4(GMPPB):c.938G>T (p.Arg313Leu)	GMPPB (R313L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
Select item 1017920	NM_021971.4(GMPPB):c.938G>A (p.Arg313His)	GMPPB (R313H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 643311	NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys)	GMPPB (R313C)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +2 more	GUncertain significance
Select item 1127519	NM_021971.4(GMPPB):c.936C>T (p.Cys312=)	GMPPB	Single nucleotide variant (synonymous variant)	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 451704	NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)	GMPPB (R311C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 1417485	NM_021971.4(GMPPB):c.923T>G (p.Val308Gly)	GMPPB (V308G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1006309	NM_021971.4(GMPPB):c.918C>G (p.Cys306Trp)	GMPPB (C306W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 743221	NM_021971.4(GMPPB):c.918C>T (p.Cys306=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1349947	NM_021971.4(GMPPB):c.910G>A (p.Glu304Lys)	GMPPB (E304K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1374516	NM_021971.4(GMPPB):c.907C>T (p.Leu303Phe)	GMPPB (L303F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 1378528	NM_021971.4(GMPPB):c.893G>A (p.Arg298His)	GMPPB (R298H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 852301	NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln)	GMPPB (R296Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +3 more	GUncertain significance
Select item 541077	NM_021971.4(GMPPB):c.878G>A (p.Arg293Gln)	GMPPB (R293Q)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 541075	NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp)	GMPPB (R293W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +3 more	GUncertain significance
Select item 969712	NM_021971.4(GMPPB):c.870G>A (p.Thr290=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 1010126	NM_021971.4(GMPPB):c.869C>T (p.Thr290Met)	GMPPB (T290M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +3 more	GUncertain significance
Select item 660239	NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro)	GMPPB (R288P)	Single nucleotide variant (missense variant)	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 60545	NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)	GMPPB (R287Q)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +7 more	GConflicting classifications of pathogenicity
Select item 1367536	NM_021971.4(GMPPB):c.859C>A (p.Arg287=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 225925	NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)	GMPPB (R287W)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +4 more	GPathogenic
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 1398207	NM_021971.4(GMPPB):c.854G>T (p.Cys285Phe)	GMPPB (C285F)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 1371179	NM_021971.4(GMPPB):c.850G>A (p.Val284Met)	GMPPB (V284M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
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 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 1134767	NM_021971.4(GMPPB):c.840C>G (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 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 474021	NM_021971.4(GMPPB):c.831C>T (p.Gly277=)	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 1084114	NM_021971.4(GMPPB):c.819C>T (p.Ser273=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
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 645452	NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser)	GMPPB (N271S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 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
Select item 573725	NM_021971.4(GMPPB):c.792G>C (p.Gln264His)	GMPPB (Q264H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 571713	NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)	GMPPB (Q264*)	Single nucleotide variant (nonsense)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GPathogenic
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 1522210	NM_021971.4(GMPPB):c.786C>G (p.Ile262Met)	GMPPB (I262M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +2 more	GUncertain significance
Select item 850712	NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)	GMPPB (R261C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1066587	NM_021971.4(GMPPB):c.769-2A>G	GMPPB	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely pathogenic
Select item 725364	NM_021971.4(GMPPB):c.769-9C>T	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1391407	NM_021971.4(GMPPB):c.769-10C>G	GMPPB	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
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 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 225926	NM_021971.4(GMPPB):c.760G>A (p.Val254Met)	GMPPB (V254M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +3 more	GLikely pathogenic

<< First< Prev

Page of 3