6443[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 348847	NM_000232.4(SGCB):c.*3258G>C	SGCB	Single nucleotide 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 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 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 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 902044	NM_000232.5(SGCB):c.*3043A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GLikely benign
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 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 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 348851	NM_000232.5(SGCB):c.*2907T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
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 348852	NM_000232.5(SGCB):c.*2811G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +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 348854	NM_000232.5(SGCB):c.*2707T>C	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 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 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 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 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 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 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 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 348858	NM_000232.5(SGCB):c.*2166T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	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 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 348860	NM_000232.5(SGCB):c.*2097T>G	SGCB	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 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 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 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 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 348864	NM_000232.5(SGCB):c.*1624C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GBenign
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 348865	NM_000232.5(SGCB):c.*1566T>C	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GBenign
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 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 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 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 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 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 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 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 348868	NM_000232.5(SGCB):c.*1125T>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GConflicting classifications of pathogenicity
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 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 348871	NM_000232.5(SGCB):c.*1113G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
Select item 348872	NM_000232.5(SGCB):c.*1105A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 348873	NM_000232.5(SGCB):c.*1002G>A	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	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 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 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 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 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 348875	NM_000232.5(SGCB):c.*724C>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GConflicting classifications of pathogenicity
Select item 348876	NM_000232.5(SGCB):c.*669T>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	GUncertain significance
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 348877	NM_000232.5(SGCB):c.*521A>T	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +2 more	GBenign
Select item 348878	NM_000232.5(SGCB):c.*507A>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Qualitative or quantitative defects of beta-sarcoglycan +1 more	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 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 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 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 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 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 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 584256	NC_000004.11:g.(?_52890103)_(52904445_?)dup	LOC129992584, LOC129992585 +1 more	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 550132	NM_000232.5(SGCB):c.*18C>G	SGCB	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 663428	NC_000004.12:g.(?_52023947)_(52038269_?)del	LOC129992584, LOC129992585 +1 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2093176	NM_000232.5(SGCB):c.957A>G (p.Ter319=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2822146	NM_000232.5(SGCB):c.954T>C (p.His318=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2435900	NM_000232.5(SGCB):c.947A>G (p.Asn316Ser)	SGCB (N316S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 1633504	NM_000232.5(SGCB):c.945A>G (p.Gly315=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 255606	NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)	SGCB (G315R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E +4 more	GConflicting classifications of pathogenicity
Select item 466609	NM_000232.5(SGCB):c.940T>C (p.Cys314Arg)	SGCB (C314R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 767636	NM_000232.5(SGCB):c.939C>T (p.Pro313=)	SGCB	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1610679	NM_000232.5(SGCB):c.936C>T (p.Asn312=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1089798	NM_000232.5(SGCB):c.933C>T (p.Asp311=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1642300	NM_000232.5(SGCB):c.930A>C (p.Ser310=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1097674	NM_000232.5(SGCB):c.930A>G (p.Ser310=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1379693	NM_000232.5(SGCB):c.929C>T (p.Ser310Leu)	SGCB (S310L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2826216	NM_000232.5(SGCB):c.921C>T (p.Cys307=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1691505	NM_000232.5(SGCB):c.919_921del (p.Cys307del)	SGCB (C307del)	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 942314	NM_000232.5(SGCB):c.915G>A (p.Met305Ile)	SGCB (M305I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 198061	NM_000232.5(SGCB):c.913A>G (p.Met305Val)	SGCB (M305V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814883	NM_000232.5(SGCB):c.908A>G (p.Gln303Arg)	SGCB (Q303R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 1112695	NM_000232.5(SGCB):c.906C>T (p.Ser302=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2160247	NM_000232.5(SGCB):c.903C>T (p.Thr301=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 661396	NM_000232.5(SGCB):c.901A>G (p.Thr301Ala)	SGCB (T301A)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 574536	NM_000232.5(SGCB):c.892G>A (p.Val298Met)	SGCB (V298M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2801999	NM_000232.5(SGCB):c.891G>A (p.Lys297=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2112801	NM_000232.5(SGCB):c.885C>G (p.Leu295=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1965341	NM_000232.5(SGCB):c.885C>T (p.Leu295=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1144722	NM_000232.5(SGCB):c.882G>A (p.Thr294=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign

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