Related gene-specific medical variations for Gene (Select 6443) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 2866914	NM_000232.5(SGCB):c.33+13C>A	LOC129992585, SGCB	Single nucleotide variant (intron 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 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 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 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 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 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 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 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 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
Select item 2678689	NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)	LOC129992585, SGCB (A6fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 2678688	NM_000232.5(SGCB):c.621+2T>C	SGCB	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2678687	NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)	LOC129992585, SGCB (A5fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 2678686	NM_000232.5(SGCB):c.113_120delinsATAAAGAGCACA (p.Ser38fs)	SGCB (S38fs)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2678685	NM_000232.5(SGCB):c.734dup (p.Gly245_Asn246insTer)	SGCB	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2678684	NM_000232.5(SGCB):c.491_494delinsTTG (p.Ser164fs)	SGCB (S164fs)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2678683	NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)	SGCB (S13fs)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2678680	NM_000232.5(SGCB):c.429+2dup	SGCB	Duplication (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 2444452	NM_000232.5:c.74_283del	SGCB	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 2435901	NM_000232.5(SGCB):c.572T>G (p.Leu191Trp)	SGCB (L191W)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
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 2435899	NM_000232.5(SGCB):c.199T>C (p.Cys67Arg)	SGCB (C67R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2435898	NM_000232.5(SGCB):c.644A>T (p.Asp215Val)	SGCB (D215V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2435897	NM_000232.5(SGCB):c.413C>T (p.Thr138Ile)	SGCB (T138I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2435896	NM_000232.5(SGCB):c.377C>T (p.Thr126Ile)	SGCB (T126I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2435895	NM_000232.5(SGCB):c.121A>G (p.Lys41Glu)	SGCB (K41E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2435894	NM_000232.5(SGCB):c.460A>G (p.Ser154Gly)	SGCB (S154G)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2435893	NM_000232.5(SGCB):c.881C>T (p.Thr294Met)	SGCB (T294M)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2169363	NM_000232.5(SGCB):c.33+4T>C	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 2113580	NM_000232.5(SGCB):c.6G>C (p.Ala2=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 2097059	NM_000232.5(SGCB):c.6G>T (p.Ala2=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1988550	NM_000232.5(SGCB):c.27A>G (p.Ala9=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1987578	NM_000232.5(SGCB):c.33+3C>G	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 1948197	NM_000232.5(SGCB):c.12G>A (p.Ala4=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1925126	NM_000232.5(SGCB):c.19G>A (p.Ala7Thr)	LOC129992585, SGCB (A7T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 1923728	NM_000232.5(SGCB):c.26C>T (p.Ala9Val)	LOC129992585, SGCB (A9V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 1807294	NM_000232.5(SGCB):c.809G>A (p.Ser270Asn)	SGCB (S270N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713904	NM_000232.5(SGCB):c.10G>C (p.Ala4Pro)	LOC129992585, SGCB (A4P)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 1686638	NM_000232.5(SGCB):c.3G>T (p.Met1Ile)	LOC129992585, SGCB (M1I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 1590256	NM_000232.5(SGCB):c.33+7G>A	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1569059	NM_000232.5(SGCB):c.33+16C>T	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1479714	NM_000232.5(SGCB):c.33+2T>A	LOC129992585, SGCB	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 1443062	NM_000232.5(SGCB):c.30del (p.Glu10fs)	LOC129992585, SGCB (E10fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 1401200	NM_000232.5(SGCB):c.32A>G (p.Gln11Arg)	LOC129992585, SGCB (Q11R)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 1391801	NM_000232.5(SGCB):c.-10_13del (p.Met1fs)	LOC129992585, SGCB (M1fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 1351086	NM_000232.5(SGCB):c.14C>T (p.Ala5Val)	LOC129992585, SGCB (A5V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 1325059	NM_000232.5(SGCB):c.539del (p.Phe180fs)	SGCB (F180fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 1323586	NM_000232.5(SGCB):c.102del (p.Glu35fs)	SGCB (E35fs)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic/Likely pathogenic
Select item 1215280	NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs)	LOC129992585, SGCB (A6fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more	GPathogenic
Select item 1180805	NM_000232.5(SGCB):c.1A>T (p.Met1Leu)	LOC129992585, SGCB (M1L)	Single nucleotide variant (missense variant +1 more)	Abnormality of the musculature	GLikely pathogenic
Select item 1136794	NM_000232.5(SGCB):c.33+9G>C	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1107707	NM_000232.5(SGCB):c.12G>T (p.Ala4=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1099171	NM_000232.5(SGCB):c.24T>C (p.Ala8=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 1083623	NM_000232.5(SGCB):c.33+10T>C	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 990320	NM_000232.5(SGCB):c.613A>T (p.Thr205Ser)	SGCB (T205S)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 978759	NM_000232.5(SGCB):c.12GGC[3] (p.Ala9del)	LOC129992585, SGCB (A9del)	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 862654	NM_000232.5(SGCB):c.2T>C (p.Met1Thr)	LOC129992585, SGCB (M1T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 851258	NM_000232.5(SGCB):c.14C>A (p.Ala5Glu)	SGCB, LOC129992585 (A5E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 841552	NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)	LOC129992585, SGCB (A4fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GConflicting classifications of pathogenicity
Select item 837812	NM_000232.5(SGCB):c.33+1G>C	LOC129992585, SGCB	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 811435	NM_000232.5(SGCB):c.152G>A (p.Arg51His)	SGCB (R51H)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 743959	NM_000232.5(SGCB):c.33+8A>G	LOC129992585, SGCB	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 728013	NM_000232.5(SGCB):c.27A>C (p.Ala9=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely benign
Select item 665910	NM_000232.5(SGCB):c.17C>T (p.Ala6Val)	SGCB, LOC129992585 (A6V)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 639848	NM_000232.5(SGCB):c.8C>A (p.Ala3Glu)	LOC129992585, SGCB (A3E)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 597425	NM_000232.5(SGCB):c.18G>A (p.Ala6=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594084	NM_000232.5(SGCB):c.12G>C (p.Ala4=)	LOC129992585, SGCB	Single nucleotide variant (synonymous variant)	not provided +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 552086	NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup)	LOC129992585, SGCB	Duplication (inframe_insertion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 551330	NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup)	LOC129992585, SGCB	Duplication (inframe_insertion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GUncertain significance
Select item 550761	NM_000232.5(SGCB):c.33+1G>A	LOC129992585, SGCB	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 534947	NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)	LOC129992585, SGCB (E10*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 515610	NM_000232.5(SGCB):c.33+16C>A	LOC129992585, SGCB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 502448	NM_000232.5(SGCB):c.33G>C (p.Gln11His)	LOC129992585, SGCB (Q11H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 466601	NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)	LOC129992585, SGCB (A8fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 466600	NC_000004.12:g.(?_52038207)_(52038279_?)del	LOC129992585, SGCB	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2E	GPathogenic
Select item 436699	NM_000232.5(SGCB):c.-4G>T	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 420206	NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)	LOC129992585, SGCB	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388695	NM_000232.5(SGCB):c.-21G>C	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383308	NM_000232.5(SGCB):c.-19C>G	LOC129992585, SGCB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 371353	NM_000232.5(SGCB):c.-15_8del (p.Met1fs)	SGCB, LOC129992585 (M1fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2E	GLikely pathogenic
Select item 371175	NM_000232.5(SGCB):c.29_33del (p.Glu10fs)	LOC129992585, SGCB (E10fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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