ClinVar for Gene (Select 6443) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366826	NM_000232.5(SGCB):c.416G>T (p.Gly139Val)	SGCB (G139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246667	NC_000004.11:g.(?_52894876)_(52895107_?)del	SGCB	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 3240448	NM_000232.5(SGCB):c.-10_10dup (p.Ala4fs)	LOC129992585, SGCB (A4fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 3239696	NM_000232.5(SGCB):c.232del (p.Ile78fs)	SGCB (I78fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 3233985	NM_000232.5(SGCB):c.518dup (p.Arg174fs)	SGCB (R174fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy	GPathogenic
Select item 3069174	NM_000232.5(SGCB):c.683G>A (p.Gly228Glu)	SGCB	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 3065035	NM_000232.5(SGCB):c.541_551del (p.Phe180_Ser181insTer)	SGCB	Deletion (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3021381	NM_000232.5(SGCB):c.622-17G>C	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 3015485	NM_000232.5(SGCB):c.754-7C>T	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 3015169	NM_000232.5(SGCB):c.430-13del	SGCB	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 3012474	NM_000232.5(SGCB):c.244-17C>T	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 3009217	NM_000232.5(SGCB):c.522G>A (p.Arg174=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 3008177	NM_000232.5(SGCB):c.675T>C (p.Ile225=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 3003286	NM_000232.5(SGCB):c.33+15C>T	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2992300	NM_000232.5(SGCB):c.244-9C>G	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2989142	NM_000232.5(SGCB):c.33+13C>T	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2988053	NM_000232.5(SGCB):c.360C>T (p.His120=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2978803	NM_000232.5(SGCB):c.318C>T (p.Gly106=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2977165	NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)	LOC129992585, SGCB (A7fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2976494	NM_000232.5(SGCB):c.6G>A (p.Ala2=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2967226	NM_000232.5(SGCB):c.87A>G (p.Arg29=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2967158	NM_000232.5(SGCB):c.9A>T (p.Ala3=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2966468	NM_000232.5(SGCB):c.433del (p.Val145fs)	SGCB (V145fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2962431	NM_000232.5(SGCB):c.429+15T>G	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2956146	NM_000232.5(SGCB):c.430-16A>G	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2920473	NM_000232.5(SGCB):c.244-14G>A	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2917406	NM_000232.5(SGCB):c.379G>C (p.Val127Leu)	SGCB (V127L)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2917166	NM_000232.5(SGCB):c.621+15C>T	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2916763	NM_000232.5(SGCB):c.430-4G>A	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2911544	NM_000232.5(SGCB):c.753+20C>T	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2910684	NM_000232.5(SGCB):c.429+12C>T	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2909173	NM_000232.5(SGCB):c.34-18G>A	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2899613	NM_000232.5(SGCB):c.33+12C>A	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2894807	NM_000232.5(SGCB):c.622-20C>A	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2892507	NM_000232.5(SGCB):c.622-17G>T	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2887968	NM_000232.5(SGCB):c.33+18C>T	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2887342	NM_000232.5(SGCB):c.244-12G>A	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2873367	NM_000232.5(SGCB):c.753+19G>A	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2872865	NM_000232.5(SGCB):c.33+11A>G	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2866965	NM_000232.5(SGCB):c.252T>C (p.Leu84=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2866914	NM_000232.5(SGCB):c.33+13C>A	SGCB, LOC129992585	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2863950	NM_000232.5(SGCB):c.621+18del	SGCB	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2860213	NM_000232.5(SGCB):c.783G>C (p.Val261=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2855036	NM_000232.5(SGCB):c.33+17G>C	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2852625	NM_000232.5(SGCB):c.622-12T>G	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2852462	NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)	LOC129992585, SGCB (A9fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2843913	NM_000232.5(SGCB):c.690A>C (p.Glu230Asp)	SGCB (E230D)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2840715	NM_000232.5(SGCB):c.622-10A>G	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2839873	NM_000232.5(SGCB):c.582A>C (p.Gly194=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2839791	NM_000232.5(SGCB):c.264C>G (p.Ala88=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2838432	NM_000232.5(SGCB):c.636T>C (p.Ala212=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2835264	NM_000232.5(SGCB):c.558_568del (p.His187fs)	SGCB (H187fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2832840	NM_000232.5(SGCB):c.765C>T (p.Ile255=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2831263	NM_000232.5(SGCB):c.126T>C (p.Ala42=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2830704	NM_000232.5(SGCB):c.426G>A (p.Gln142=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2828840	NM_000232.5(SGCB):c.78T>C (p.Ala26=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
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 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 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 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 2801022	NM_000232.5(SGCB):c.319C>T (p.Leu107=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2794953	NM_000232.5(SGCB):c.430-8T>C	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2792959	NM_000232.5(SGCB):c.33+12C>T	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2789475	NM_000232.5(SGCB):c.132C>T (p.Tyr44=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2788861	NM_000232.5(SGCB):c.21G>A (p.Ala7=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2783830	NM_000232.5(SGCB):c.754-13A>C	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2779996	NM_000232.5(SGCB):c.243+11G>A	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2778983	NM_000232.5(SGCB):c.333G>A (p.Lys111=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2778259	NM_000232.5(SGCB):c.372A>G (p.Lys124=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2776405	NM_000232.5(SGCB):c.15G>A (p.Ala5=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2763313	NM_000232.5(SGCB):c.244-19G>C	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2760640	NM_000232.5(SGCB):c.42C>T (p.Ser14=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2752736	NM_000232.5(SGCB):c.460_482del (p.Ser154fs)	SGCB (S154fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2742061	NM_000232.5(SGCB):c.622-11del	SGCB	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GBenign
Select item 2735943	NM_000232.5(SGCB):c.430-13_430-12del	SGCB	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2732065	NM_000232.5(SGCB):c.141T>A (p.Ile47=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2730012	NM_000232.5(SGCB):c.159C>T (p.His53=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2727993	NM_000232.5(SGCB):c.429+17A>T	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2724782	NM_000232.5(SGCB):c.621+20T>A	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2718409	NM_000232.5(SGCB):c.571T>C (p.Leu191=)	SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2716549	NM_000232.5(SGCB):c.34-15G>A	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2712694	NM_000232.5(SGCB):c.621+14del	SGCB	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2712374	NM_000232.5(SGCB):c.543_547del (p.Ser181fs)	SGCB (S181fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2709628	NM_000232.5(SGCB):c.33+13C>G	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2701395	NM_000232.5(SGCB):c.243+11G>C	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2700315	NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)	LOC129992585, SGCB (A4fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2695058	NM_000232.5(SGCB):c.622-1G>T	SGCB	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2690700	NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)	SGCB (S210R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2689957	NM_000232.5(SGCB):c.11C>T (p.Ala4Val)	LOC129992585, SGCB (A4V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2689956	NM_000232.5(SGCB):c.243+1548T>C	SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2689955	NM_000232.5(SGCB):c.479C>T (p.Thr160Ile)	SGCB (T160I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2685967	GRCh37/hg19 4q11-12(chr4:52685980-54252935)x3	DANCR, DCUN1D4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2678696	NM_000232.5(SGCB):c.151dup (p.Arg51fs)	SGCB (R51fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2678695	NM_000232.5(SGCB):c.703dup (p.Met235fs)	SGCB (M235fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2678694	NM_000232.5(SGCB):c.573_574delinsCAA (p.Leu191fs)	SGCB (L191fs)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2678693	NM_000232.5(SGCB):c.404T>A (p.Leu135Ter)	SGCB (L135*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2678692	NM_000232.5(SGCB):c.532dup (p.Ile178fs)	SGCB (I178fs)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2678690	NM_000232.5(SGCB):c.374del (p.Ser125fs)	SGCB (S125fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic

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