ClinVar for MedGen (Select 418943) - ClinVar

Links from MedGen

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 902986	NM_000232.5(SGCB):c.*545T>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902985	NM_000232.5(SGCB):c.*774C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902984	NM_000232.5(SGCB):c.*800A>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902983	NM_000232.5(SGCB):c.*827A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902982	NM_000232.5(SGCB):c.*976T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902934	NM_000232.5(SGCB):c.*2387A>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902933	NM_000232.5(SGCB):c.*2423C>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902932	NM_000232.5(SGCB):c.*2444G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902931	NM_000232.5(SGCB):c.*2494G>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902046	NM_000232.5(SGCB):c.*2814A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902045	NM_000232.5(SGCB):c.*2970A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 902044	NM_000232.5(SGCB):c.*3043A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GLikely benign
Select item 902043	NM_000232.5(SGCB):c.*3056T>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 901532	NM_000232.5(SGCB):c.*1238G>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 901531	NM_000232.5(SGCB):c.*1302A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 901530	NM_000232.5(SGCB):c.*1370A>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 901529	NM_000232.5(SGCB):c.*1379T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GBenign
Select item 901528	NM_000232.5(SGCB):c.*1513G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 901527	NM_000232.5(SGCB):c.*1553T>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 901526	NM_000232.5(SGCB):c.*1567G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 901471	NM_000232.5(SGCB):c.*3136T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 901470	NM_000232.5(SGCB):c.*3213G>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 900490	NM_000232.5(SGCB):c.558T>G (p.Thr186=)	SGCB	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GConflicting classifications of pathogenicity
Select item 900489	NM_000232.5(SGCB):c.780T>A (p.Ser260=)	SGCB	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 900434	NM_000232.5(SGCB):c.*119G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 900433	NM_000232.5(SGCB):c.*265G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 900432	NM_000232.5(SGCB):c.*359G>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 900431	NM_000232.5(SGCB):c.*401G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 900379	NM_000232.5(SGCB):c.*1678C>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 900378	NM_000232.5(SGCB):c.*2021A>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 900377	NM_000232.5(SGCB):c.*2147C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GUncertain significance
Select item 900376	NM_000232.5(SGCB):c.*2282A>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan	GLikely benign
Select item 767636	NM_000232.5(SGCB):c.939C>T (p.Pro313=)	SGCB	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 746533	NM_000232.5(SGCB):c.519G>A (p.Pro173=)	SGCB	Single nucleotide variant (synonymous variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GConflicting classifications of pathogenicity
Select item 577280	NM_000232.5(SGCB):c.29A>G (p.Glu10Gly)	LOC129992585, SGCB (E10G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GUncertain significance
Select item 516368	NM_000232.5(SGCB):c.243+6T>A	SGCB	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 498982	NM_000232.5(SGCB):c.752C>T (p.Ala251Val)	SGCB (A251V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 381511	NM_000232.5(SGCB):c.-16C>G	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GConflicting classifications of pathogenicity
Select item 348888	NM_000232.4(SGCB):c.-59C>G	LOC129992585, SGCB	Single nucleotide variant	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348887	NM_000232.5(SGCB):c.-30G>C	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348886	NM_000232.5(SGCB):c.-25G>A	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GBenign/Likely benign
Select item 348885	NM_000232.5(SGCB):c.-18G>A	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348884	NM_000232.5(SGCB):c.-5G>T	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348883	NM_000232.5(SGCB):c.34-9C>A	SGCB	Single nucleotide variant (intron variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 348882	NM_000232.5(SGCB):c.798C>A (p.Thr266=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more	GConflicting classifications of pathogenicity
Select item 348881	NM_000232.5(SGCB):c.*23A>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348880	NM_000232.5(SGCB):c.*175A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348879	NM_000232.5(SGCB):c.*375G>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348878	NM_000232.5(SGCB):c.*507A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348877	NM_000232.5(SGCB):c.*521A>T	SGCB	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348876	NM_000232.5(SGCB):c.*669T>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348875	NM_000232.5(SGCB):c.*724C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 348874	NM_000232.5(SGCB):c.*847T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348873	NM_000232.5(SGCB):c.*1002G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348872	NM_000232.5(SGCB):c.*1105A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 348871	NM_000232.5(SGCB):c.*1113G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348870	NM_000232.5(SGCB):c.*1115G>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348869	NM_000232.5(SGCB):c.*1118G>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348868	NM_000232.5(SGCB):c.*1125T>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 348867	NM_000232.5(SGCB):c.*1127A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348866	NM_000232.5(SGCB):c.*1135C>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348865	NM_000232.5(SGCB):c.*1566T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign
Select item 348864	NM_000232.5(SGCB):c.*1624C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign
Select item 348863	NM_000232.5(SGCB):c.*1648dup	SGCB	Duplication (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348862	NM_000232.5(SGCB):c.1722_1726del	SGCB	Deletion (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348861	NM_000232.5(SGCB):c.*1959TTTA[1]	SGCB	Microsatellite (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GLikely benign
Select item 348860	NM_000232.5(SGCB):c.*2097T>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GBenign
Select item 348859	NM_000232.5(SGCB):c.*2129del	SGCB	Deletion (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348858	NM_000232.5(SGCB):c.*2166T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348857	NM_000232.5(SGCB):c.*2286T>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GConflicting classifications of pathogenicity
Select item 348856	NM_000232.5(SGCB):c.*2351C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348855	NM_000232.5(SGCB):c.*2580C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348854	NM_000232.5(SGCB):c.*2707T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348853	NM_000232.5(SGCB):c.*2764G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348852	NM_000232.5(SGCB):c.*2811G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 348851	NM_000232.5(SGCB):c.*2907T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 348850	NM_000232.5(SGCB):c.2956_2960del	SGCB	Deletion (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348849	NM_000232.5(SGCB):c.*2984G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348848	NM_000232.5(SGCB):c.*3216A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348847	NM_000232.4(SGCB):c.*3258G>C	SGCB	Single nucleotide variant	Limb-Girdle Muscular Dystrophy, Recessive +1 more	GUncertain significance
Select item 288286	NM_000232.5(SGCB):c.495C>T (p.Asp165=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more	GConflicting classifications of pathogenicity
Select item 285961	NM_000232.5(SGCB):c.496A>G (p.Ile166Val)	SGCB (I166V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 285160	NM_000232.5(SGCB):c.502A>G (p.Met168Val)	SGCB (M168V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more	GUncertain significance
Select item 284821	NM_000232.5(SGCB):c.392G>A (p.Arg131Gln)	SGCB (R131Q)	Single nucleotide variant (missense variant)	Qualitative or quantitative defects of beta-sarcoglycan +3 more	GUncertain significance
Select item 284502	NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)	SGCB, LOC129992585 (Q11*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 283043	NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)	SGCB (R267C)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 282860	NM_000232.5(SGCB):c.1_2del (p.Met1fs)	LOC129992585, SGCB	Deletion (frameshift variant +1 more)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GPathogenic/Likely pathogenic
Select item 282248	NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)	LOC129992585, SGCB (Q11E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 255606	NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)	SGCB (G315R)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 92661	NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)	SGCB	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 42035	NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)	SGCB	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic

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Items: 91