7611[HGNC] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 723841	NM_002478.5(MYOD1):c.18A>G (p.Pro6=)	MYOD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2322863	NM_002478.5(MYOD1):c.36C>A (p.Asp12Glu)	MYOD1 (D12E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727915	NM_002478.5(MYOD1):c.63C>T (p.Cys21=)	MYOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3049014	NM_002478.5(MYOD1):c.78G>A (p.Thr26=)	MYOD1	Single nucleotide variant (synonymous variant)	MYOD1-related disorder	GLikely benign
Select item 3167519	NM_002478.5(MYOD1):c.116A>G (p.Asp39Gly)	MYOD1 (D39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694633	NM_002478.5(MYOD1):c.122G>T (p.Arg41Leu)	MYOD1 (R41L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723921	NM_002478.5(MYOD1):c.142C>A (p.Pro48Thr)	MYOD1 (P48T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3297988	NM_002478.5(MYOD1):c.166C>T (p.Leu56Phe)	MYOD1 (L56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 816937	NM_002478.5(MYOD1):c.188C>A (p.Ser63Ter)	MYOD1 (S63*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2457417	NM_002478.5(MYOD1):c.194T>A (p.Phe65Tyr)	MYOD1 (F65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788828	NM_002478.5(MYOD1):c.219G>A (p.Pro73=)	MYOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057336	NM_002478.5(MYOD1):c.225A>C (p.Ala75=)	MYOD1	Single nucleotide variant (synonymous variant)	MYOD1-related disorder	GLikely benign
Select item 3167527	NM_002478.5(MYOD1):c.235G>A (p.Glu79Lys)	MYOD1 (E79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730311	NM_002478.5(MYOD1):c.263A>G (p.His88Arg)	MYOD1 (H88R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3297987	NM_002478.5(MYOD1):c.327C>A (p.Asp109Glu)	MYOD1 (D109E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341452	NM_002478.5(MYOD1):c.468T>A (p.Tyr156Ter)	MYOD1 (Y156*)	Single nucleotide variant (nonsense)	Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	GLikely pathogenic
Select item 2366671	NM_002478.5(MYOD1):c.484G>A (p.Ala162Thr)	MYOD1 (A162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566167	NM_002478.5(MYOD1):c.502G>A (p.Asp168Asn)	MYOD1 (D168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457061	NM_002478.5(MYOD1):c.503A>G (p.Asp168Gly)	MYOD1 (D168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493712	NM_002478.5(MYOD1):c.505G>T (p.Ala169Ser)	MYOD1 (A169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454192	NM_002478.5(MYOD1):c.511C>T (p.Pro171Ser)	MYOD1 (P171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324418	NM_002478.5(MYOD1):c.548C>G (p.Pro183Arg)	MYOD1 (P183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 631486	NM_002478.5(MYOD1):c.557dup (p.Arg188fs)	MYOD1 (R188fs)	Duplication (frameshift variant)	Autosomal dominant centronuclear myopathy +1 more	GPathogenic
Select item 2603162	NM_002478.5(MYOD1):c.553C>A (p.Pro185Thr)	MYOD1 (P185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397982	NM_002478.5(MYOD1):c.553C>T (p.Pro185Ser)	MYOD1 (P185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517558	NM_002478.5(MYOD1):c.556C>G (p.Pro186Ala)	MYOD1 (P186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167554	NM_002478.5(MYOD1):c.583G>T (p.Gly195Cys)	MYOD1 (G195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392056	NM_002478.5(MYOD1):c.590C>T (p.Ser197Phe)	MYOD1 (S197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454498	NM_002478.5(MYOD1):c.596C>T (p.Ala199Val)	MYOD1 (A199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1210295	NM_002478.5(MYOD1):c.607C>G (p.Arg203Gly)	MYOD1 (R203G)	Single nucleotide variant (missense variant)	Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	GUncertain significance
Select item 3297986	NM_002478.5(MYOD1):c.611C>G (p.Ser204Cys)	MYOD1 (S204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055802	NM_002478.5(MYOD1):c.630+9G>T	MYOD1	Single nucleotide variant (intron variant)	MYOD1-related disorder	GBenign
Select item 2224102	NM_002478.5(MYOD1):c.635A>G (p.Asp212Gly)	MYOD1 (D212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275587	NM_002478.5(MYOD1):c.642C>G (p.Ser214Arg)	MYOD1 (S214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 976484	NM_002478.5(MYOD1):c.697G>T (p.Glu233Ter)	MYOD1	Single nucleotide variant (nonsense)	Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	GPathogenic
Select item 730409	NM_002478.5(MYOD1):c.710-4G>C	MYOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2268515	NM_002478.5(MYOD1):c.718C>G (p.Pro240Ala)	MYOD1 (P240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731111	NM_002478.5(MYOD1):c.768G>A (p.Val256=)	MYOD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2641658	NM_002478.5(MYOD1):c.819C>T (p.Asp273=)	MYOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600855	NM_002478.5(MYOD1):c.820G>A (p.Val274Met)	MYOD1 (V274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320912	NM_002478.5(MYOD1):c.826T>C (p.Ser276Pro)	MYOD1 (S276P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 450288	NM_002478.5(MYOD1):c.854C>A (p.Ala285Asp)	MYOD1 (A285D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3167572	NM_002478.5(MYOD1):c.874G>A (p.Glu292Lys)	MYOD1 (E292K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039547	NM_002478.5(MYOD1):c.878G>A (p.Ser293Asn)	MYOD1 (S293N)	Single nucleotide variant (missense variant)	MYOD1-related disorder	GBenign
Select item 2340343	NM_002478.5(MYOD1):c.879C>A (p.Ser293Arg)	MYOD1 (S293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167576	NM_002478.5(MYOD1):c.898T>A (p.Ser300Thr)	MYOD1 (S300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167580	NM_002478.5(MYOD1):c.914C>A (p.Pro305Gln)	MYOD1 (P305Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711460	NM_002478.5(MYOD1):c.915G>A (p.Pro305=)	MYOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527628	GRCh37/hg19 11p15.1(chr11:16820813-18103432)	ABCC8, KCNC1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	CSRP3, GTF2H1 +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980403	GRCh37/hg19 11p15.1(chr11:17461542-17773192)x3	MYOD1, ABCC8 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 687899	GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3	ABCC8, C11orf58 +22 more	Copy number gain	not provided	GUncertain significance
Select item 687796	GRCh37/hg19 11p15.1(chr11:16436272-18064677)x3	ABCC8, C11orf58 +13 more	Copy number gain	not provided	GUncertain significance
Select item 563866	GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1	GTF2H1, HPS5 +18 more	Copy number loss	not provided	GUncertain significance
Select item 443529	GRCh37/hg19 11p15.1(chr11:17142196-18014467)x3	ABCC8, KCNC1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442305	GRCh37/hg19 11p15.1(chr11:17658844-17744407)x4	MYOD1, OTOG	Copy number gain	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 67