58[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 1212858	NC_000001.11:g.229431175dup	ACTA1	Duplication	not provided	GLikely benign
Select item 876668	NM_001100.4(ACTA1):c.*248G>A	ACTA1	Single nucleotide variant (3 prime UTR variant)	Actin accumulation myopathy +2 more	GConflicting classifications of pathogenicity
Select item 876669	NM_001100.4(ACTA1):c.*66G>A	ACTA1	Single nucleotide variant (3 prime UTR variant)	Actin accumulation myopathy +2 more	GUncertain significance
Select item 1207757	NM_001100.4(ACTA1):c.*58dup	ACTA1	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 532768	NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln)	ACTA1	Single nucleotide variant (stop lost)	Actin accumulation myopathy	GPathogenic
Select item 692083	NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser)	ACTA1 (F377S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 873830	NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy +2 more	GConflicting classifications of pathogenicity
Select item 2442103	NM_001100.4(ACTA1):c.1127G>A (p.Cys376Tyr)	ACTA1 (C376Y)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 801630	NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)	ACTA1 (C376F)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic/Likely pathogenic
Select item 2582824	NM_001100.4(ACTA1):c.1125A>C (p.Lys375Asn)	ACTA1 (K375N)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 464116	NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 662251	NM_001100.4(ACTA1):c.1123A>G (p.Lys375Glu)	ACTA1 (K375E)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2582825	NM_001100.4(ACTA1):c.1119C>G (p.His373Gln)	ACTA1 (H373Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 296051	NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met)	ACTA1 (I371M)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy +2 more	GUncertain significance
Select item 464115	NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr)	ACTA1 (S370Y)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2582816	NM_001100.4(ACTA1):c.1106C>A (p.Pro369His)	ACTA1 (P369H)	Single nucleotide variant (missense variant)	Myopathy	GUncertain significance
Select item 431989	NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu)	ACTA1 (P369L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 381474	NM_001100.4(ACTA1):c.1104C>T (p.Gly368=)	ACTA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 424944	NM_001100.4(ACTA1):c.1101C>T (p.Ala367=)	ACTA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2037793	NM_001100.4(ACTA1):c.1098G>A (p.Glu366=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 1950957	NM_001100.4(ACTA1):c.1083G>A (p.Lys361=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2008339	NM_001100.4(ACTA1):c.1075A>G (p.Ile359Val)	ACTA1 (I359V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 18284	NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu)	ACTA1 (I359L)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant	GPathogenic
Select item 127188	NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys)	ACTA1 (W358C)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 835545	NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile)	ACTA1 (M357I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 493064	NM_001100.4(ACTA1):c.1069A>G (p.Met357Val)	ACTA1 (M357V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510989	NM_001100.4(ACTA1):c.1065G>A (p.Gln355=)	ACTA1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2507259	NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)	ACTA1 (F354S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1514282	NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs)	ACTA1 (A349fs)	Deletion (frameshift variant)	Actin accumulation myopathy	GUncertain significance
Select item 1301883	NM_001100.4(ACTA1):c.1060T>C (p.Phe354Leu)	ACTA1 (F354L)	Single nucleotide variant (missense variant)	ACTA1-related myopathies	GLikely pathogenic
Select item 843807	NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala)	ACTA1 (T353A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2438835	NM_001100.4(ACTA1):c.1055C>T (p.Ser352Phe)	ACTA1 (S352F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 464113	NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro)	ACTA1 (S352P)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 1098969	NM_001100.4(ACTA1):c.1050G>T (p.Ser350=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2438833	NM_001100.4(ACTA1):c.1049C>G (p.Ser350Trp)	ACTA1 (S350W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1457948	NM_001100.4(ACTA1):c.1049C>T (p.Ser350Leu)	ACTA1 (S350L)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 636712	NM_001100.4(ACTA1):c.1046C>T (p.Ala349Val)	ACTA1 (A349V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303122	NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln)	ACTA1 (L348Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2819676	NM_001100.4(ACTA1):c.1033G>A (p.Gly345Ser)	ACTA1 (G345S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 573874	NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp)	ACTA1 (G344D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2108675	NM_001100.4(ACTA1):c.1030G>A (p.Gly344Ser)	ACTA1 (G344S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 1303501	NM_001100.4(ACTA1):c.1030G>C (p.Gly344Arg)	ACTA1 (G344R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306956	NM_001100.4(ACTA1):c.1029C>G (p.Ile343Met)	ACTA1 (I343M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709939	NM_001100.4(ACTA1):c.1027A>G (p.Ile343Val)	ACTA1 (I343V)	Single nucleotide variant (missense variant)	Progressive scapulohumeroperoneal distal myopathy	GUncertain significance
Select item 2847225	NM_001100.4(ACTA1):c.1018T>G (p.Ser340Ala)	ACTA1 (S340A)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2860475	NM_001100.4(ACTA1):c.1015T>A (p.Tyr339Asn)	ACTA1 (Y339N)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 464112	NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn)	ACTA1 (K338N)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2062106	NM_001100.4(ACTA1):c.1010G>A (p.Arg337His)	ACTA1 (R337H)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2633560	NM_001100.4(ACTA1):c.1008G>C (p.Glu336Asp)	ACTA1 (E336D)	Single nucleotide variant (missense variant)	ACTA1-related disorder	GLikely pathogenic
Select item 18288	NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala)	ACTA1 (E336A)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GPathogenic
Select item 2832183	NM_001100.4(ACTA1):c.1006del (p.Glu336fs)	ACTA1 (E336fs)	Deletion (frameshift variant)	Actin accumulation myopathy	GPathogenic
Select item 801631	NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg)	ACTA1 (P335R)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 575911	NM_001100.4(ACTA1):c.1004C>T (p.Pro335Leu)	ACTA1 (P335L)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 373580	NM_001100.4(ACTA1):c.1004C>A (p.Pro335Gln)	ACTA1 (P335Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 583243	NM_001100.4(ACTA1):c.1003C>G (p.Pro335Ala)	ACTA1 (P335A)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 1031829	NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg)	ACTA1 (P334R)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 532770	NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)	ACTA1 (P334L)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +1 more	GConflicting classifications of pathogenicity
Select item 18291	NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)	ACTA1 (P334S)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 93555	NM_001100.4(ACTA1):c.996C>A (p.Ile332=)	ACTA1	Single nucleotide variant (synonymous variant)	Familial restrictive cardiomyopathy +3 more	GBenign/Likely benign
Select item 3031561	NM_001100.4(ACTA1):c.991-10T>C	ACTA1	Single nucleotide variant (intron variant)	ACTA1-related disorder	GLikely benign
Select item 2722691	NM_001100.4(ACTA1):c.991-12G>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2037395	NM_001100.4(ACTA1):c.991-12G>C	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2790387	NM_001100.4(ACTA1):c.991-14G>C	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2047711	NM_001100.4(ACTA1):c.991-14G>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 1633317	NM_001100.4(ACTA1):c.990+6TGG[3]	ACTA1	Microsatellite (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 2733124	NM_001100.4(ACTA1):c.990+10G>C	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GLikely benign
Select item 1926414	NM_001100.4(ACTA1):c.990+3G>T	ACTA1	Single nucleotide variant (intron variant)	Actin accumulation myopathy	GUncertain significance
Select item 464139	NM_001100.4(ACTA1):c.990+1G>T	ACTA1	Single nucleotide variant (splice donor variant)	Actin accumulation myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2004055	NM_001100.4(ACTA1):c.986_989dup (p.Lys330fs)	ACTA1 (K330fs)	Duplication (frameshift variant)	Actin accumulation myopathy	GUncertain significance
Select item 2075759	NM_001100.4(ACTA1):c.986T>C (p.Ile329Thr)	ACTA1 (I329T)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 1003875	NM_001100.4(ACTA1):c.983_985del (p.Lys328del)	ACTA1 (K328del)	Deletion (inframe_deletion)	Actin accumulation myopathy	GUncertain significance
Select item 1608770	NM_001100.4(ACTA1):c.984G>A (p.Lys328=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 50318	NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn)	ACTA1 (K328N)	Single nucleotide variant (missense variant)	Congenital myopathy 2c, severe infantile, autosomal dominant	GPathogenic
Select item 464138	NM_001100.4(ACTA1):c.981G>C (p.Met327Ile)	ACTA1 (M327I)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 1479985	NM_001100.4(ACTA1):c.980T>A (p.Met327Lys)	ACTA1 (M327K)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GLikely pathogenic
Select item 2438831	NM_001100.4(ACTA1):c.975C>A (p.Ser325Arg)	ACTA1 (S325R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 464137	NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del)	ACTA1	Deletion (inframe_deletion)	Actin accumulation myopathy	GUncertain significance
Select item 296052	NM_001100.4(ACTA1):c.966G>A (p.Leu322=)	ACTA1	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +2 more	GUncertain significance
Select item 655648	NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln)	ACTA1 (L322Q)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 956562	NM_001100.4(ACTA1):c.964C>G (p.Leu322Val)	ACTA1 (L322V)	Single nucleotide variant (missense variant)	Actin accumulation myopathy	GUncertain significance
Select item 2149127	NM_001100.4(ACTA1):c.963G>T (p.Ala321=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 746758	NM_001100.4(ACTA1):c.963G>C (p.Ala321=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 703933	NM_001100.4(ACTA1):c.963G>A (p.Ala321=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 1570358	NM_001100.4(ACTA1):c.960C>T (p.Thr320=)	ACTA1	Single nucleotide variant (synonymous variant)	Actin accumulation myopathy	GLikely benign
Select item 2775438	NM_001100.4(ACTA1):c.954G>C (p.Glu318Asp)	ACTA1 (E318D)	Single nucleotide variant (missense variant)	Actin accumulation myopathy +2 more	GUncertain significance
Select item 2627920	NM_001100.4(ACTA1):c.936del (p.Asp313fs)	ACTA1 (D313fs)	Deletion (frameshift variant)	Alpha-actinopathy	GLikely pathogenic

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