29925[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 2396480	NM_022064.5(RNF123):c.3550C>T (p.Arg1184Cys)	GMPPB, RNF123 (R1184C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 712458	NM_022064.5(RNF123):c.3596G>C (p.Gly1199Ala)	GMPPB, RNF123 (G1199A)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3257646	NM_022064.5(RNF123):c.3620G>A (p.Arg1207Gln)	GMPPB, RNF123 (R1207Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2540710	NM_022064.5(RNF123):c.3626G>A (p.Arg1209His)	GMPPB, RNF123 (R1209H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2372041	NM_022064.5(RNF123):c.3679G>C (p.Val1227Leu)	GMPPB, RNF123 (V1227L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2317018	NM_022064.5(RNF123):c.3695C>G (p.Ala1232Gly)	GMPPB, RNF123 (A1232G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371276	NM_022064.5(RNF123):c.3699C>A (p.His1233Gln)	GMPPB, RNF123 (H1233Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2621081	NM_022064.5(RNF123):c.3704C>T (p.Thr1235Ile)	GMPPB, RNF123 (T1235I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1013476	NM_022064.5(RNF123):c.3720G>A (p.Gln1240=)	GMPPB, RNF123	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2409763	NM_022064.5(RNF123):c.3742A>G (p.Thr1248Ala)	GMPPB, RNF123 (T1248A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3314709	NM_022064.5(RNF123):c.3815A>T (p.Lys1272Met)	GMPPB, RNF123 (K1272M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
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 brain and eye anomalies), type A14 +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1134065	NM_021971.4(GMPPB):c.1065G>A (p.Glu355=)	GMPPB	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2314769	NM_021971.4(GMPPB):c.1058T>C (p.Val353Ala)	GMPPB (V380A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061179	NM_021971.4(GMPPB):c.1057G>A (p.Val353Met)	GMPPB (V353M +1 more)	Single nucleotide variant (missense variant)	GMPPB-related disorder	GUncertain significance
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)	not provided +3 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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 424531	NM_021971.4(GMPPB):c.1041_1043dup (p.Ser348dup)	GMPPB	Duplication (inframe_insertion)	not provided	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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GUncertain significance
Select item 3253403	NM_021971.4(GMPPB):c.1037A>C (p.His346Pro)	GMPPB (H346P +1 more)	Single nucleotide variant (missense variant)	not provided	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 brain and eye anomalies), type A14 +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 brain and eye anomalies), type A14 +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)	Inborn genetic diseases +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 424164	NM_021971.4(GMPPB):c.1018G>A (p.Gly340Arg)	GMPPB (G367R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 1324488	NM_021971.4(GMPPB):c.1008_1009del (p.Tyr337fs)	GMPPB (Y337fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
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 intellectual disability), type B14 +2 more	GUncertain significance
Select item 992821	NM_021971.4(GMPPB):c.1004A>T (p.Glu335Val)	GMPPB (E335V +1 more)	Single nucleotide variant (missense variant)	Elevated circulating creatine kinase concentration	GUncertain significance
Select item 60540	NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn)	GMPPB (D334N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +6 more	GPathogenic/Likely pathogenic
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 2491119	NM_021971.4(GMPPB):c.989T>C (p.Val330Ala)	GMPPB (V357A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 60547	NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)	GMPPB (V330I +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +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 +3 more	GLikely benign
Select item 1537371	NM_021971.4(GMPPB):c.984G>A (p.Glu328=)	GMPPB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2T +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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +3 more	GUncertain significance
Select item 986241	NM_021971.4(GMPPB):c.966C>G (p.Asn322Lys)	GMPPB (N322K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Autosomal recessive limb-girdle muscular dystrophy type 2T +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 intellectual disability), type B14 +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 (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2431558	NM_021971.4(GMPPB):c.952-21_952-17dup	GMPPB (Y340fs)	Duplication (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	GUncertain significance
Select item 2432184	NM_021971.4(GMPPB):c.952-18_952-17delinsTT	GMPPB (A339F)	Indel (missense variant +1 more)	not provided	GUncertain significance
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 brain and eye anomalies), type A14 +2 more	GLikely benign
Select item 2432192	NM_021971.4(GMPPB):c.952-22C>G	GMPPB (D337E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2410066	NM_021971.4(GMPPB):c.952-22C>A	GMPPB (D337E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2653846	NM_021971.4(GMPPB):c.952-25T>C	GMPPB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2432179	NM_021971.4(GMPPB):c.952-38G>C	GMPPB (C332S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 915398	NM_021971.4(GMPPB):c.951+28_951+29insGGGGGGGGGC	GMPPB (E327fs)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2228645	NM_021971.4(GMPPB):c.951+28G>A	GMPPB (E327K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432194	NM_021971.4(GMPPB):c.951+26G>A	GMPPB (G326E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1206270	NM_021971.4(GMPPB):c.951+20T>G	GMPPB (L324R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1206172	NM_021971.4(GMPPB):c.951+19C>G	GMPPB (L324V)	Single nucleotide variant (missense variant +1 more)	not provided	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 2335280	NM_021971.4(GMPPB):c.951+16G>A	GMPPB (G323R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 +3 more	GConflicting classifications of pathogenicity
Select item 1722981	NM_021971.4(GMPPB):c.951+5G>A	GMPPB (S319N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 267280	NM_021971.2:c.951+1G>A	GMPPB (V318I)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 1709578	NM_021971.4(GMPPB):c.948G>C (p.Gln316His)	GMPPB (Q316H)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14	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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 +2 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 brain and eye anomalies), type A14 +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 intellectual disability), type B14 +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 intellectual disability), type B14 +2 more	GUncertain significance
Select item 3033721	NM_021971.4(GMPPB):c.933C>T (p.Arg311=)	GMPPB	Single nucleotide variant (synonymous variant)	GMPPB-related disorder	GLikely benign
Select item 451704	NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)	GMPPB (R311C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 intellectual disability), type B14 +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

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