88[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	LOC129932493, LOC129932494 +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	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	LOC126806063, LOC126806064 +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 155507	GRCh38/hg38 1q42.3-43(chr1:236206560-236941297)x3	ACTN2, EDARADD +29 more	Copy number gain	See cases	GUncertain significance
Select item 147484	GRCh38/hg38 1q42.3-43(chr1:236237049-236904883)x3	ACTN2, EDARADD +28 more	Copy number gain	See cases	GUncertain significance
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +301 more	Copy number loss	See cases	GPathogenic
Select item 671848	NM_001103.2(ACTN2):c.-510C>T	ACTN2	Single nucleotide variant	not provided	GBenign
Select item 876165	NM_001103.3(ACTN2):c.-223C>T	ACTN2	Single nucleotide variant	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 1186931	NC_000001.11:g.236686477C>A	ACTN2	Single nucleotide variant	not provided	GLikely benign
Select item 296490	NM_001103.4(ACTN2):c.-159C>T	ACTN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296491	NM_001103.4(ACTN2):c.-104C>A	ACTN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296492	NM_001103.4(ACTN2):c.-98CGCCGCC[4]	ACTN2	Microsatellite (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296493	NM_001103.4(ACTN2):c.-98CGCCGCC[2]	ACTN2	Microsatellite (5 prime UTR variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 516262	NM_001103.4(ACTN2):c.-43C>G	ACTN2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 136287	NM_001103.4(ACTN2):c.-22C>T	ACTN2	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 463185	NC_000001.10:g.(?_236849954)_(237205889_?)dup	LOC129932885, LOC129932886 +9 more	Duplication	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 515171	NM_001103.4(ACTN2):c.-18C>A	ACTN2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 296494	NM_001103.4(ACTN2):c.-7G>A	ACTN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 162723	NM_001103.4(ACTN2):c.-3G>T	ACTN2	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 846012	NM_001103.4(ACTN2):c.1_6del (p.Met1_Asn2del)	ACTN2	Deletion (inframe_deletion +2 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1937479	NM_001103.4(ACTN2):c.1A>G (p.Met1Val)	ACTN2 (M1V)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2941969	NM_001103.4(ACTN2):c.6C>G (p.Asn2Lys)	ACTN2 (N2K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 841322	NM_001103.4(ACTN2):c.6C>A (p.Asn2Lys)	ACTN2 (N2K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1005696	NM_001103.4(ACTN2):c.8A>G (p.Gln3Arg)	ACTN2 (Q3R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 532045	NM_001103.4(ACTN2):c.9G>T (p.Gln3His)	ACTN2 (Q3H)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1041227	NM_001103.4(ACTN2):c.12A>G (p.Ile4Met)	ACTN2 (I4M)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2932818	NM_001103.4(ACTN2):c.16C>T (p.Pro6Ser)	ACTN2 (P6S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2926544	NM_001103.4(ACTN2):c.16C>G (p.Pro6Ala)	ACTN2 (P6A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1436080	NM_001103.4(ACTN2):c.17C>G (p.Pro6Arg)	ACTN2 (P6R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 162724	NM_001103.4(ACTN2):c.18C>A (p.Pro6=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 43919	NM_001103.4(ACTN2):c.18C>T (p.Pro6=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 390314	NM_001103.4(ACTN2):c.19G>A (p.Gly7Ser)	ACTN2 (G7S)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 1042730	NM_001103.4(ACTN2):c.21C>T (p.Gly7=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Myopathy, congenital, with structured cores and z-line abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 2447695	NM_001103.4(ACTN2):c.22G>T (p.Val8Leu)	ACTN2 (V8L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1789267	NM_001103.4(ACTN2):c.22G>C (p.Val8Leu)	ACTN2 (V8L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 570006	NM_001103.4(ACTN2):c.22G>A (p.Val8Met)	ACTN2 (V8M)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2008487	NM_001103.4(ACTN2):c.26A>C (p.Gln9Pro)	ACTN2 (Q9P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 18313	NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)	ACTN2 (Q9R)	Single nucleotide variant (missense variant +1 more)	Intrinsic cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 1658140	NM_001103.4(ACTN2):c.30C>T (p.Tyr10=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 296495	NM_001103.4(ACTN2):c.31A>C (p.Asn11His)	ACTN2 (N11H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 857315	NM_001103.4(ACTN2):c.32A>G (p.Asn11Ser)	ACTN2 (N11S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1983522	NM_001103.4(ACTN2):c.35A>G (p.Tyr12Cys)	ACTN2 (Y12C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1596511	NM_001103.4(ACTN2):c.36C>T (p.Tyr12=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2562766	NM_001103.4(ACTN2):c.41A>G (p.Tyr14Cys)	ACTN2 (Y14C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2625134	NM_001103.4(ACTN2):c.43G>A (p.Asp15Asn)	ACTN2 (D15N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2154099	NM_001103.4(ACTN2):c.46G>A (p.Glu16Lys)	ACTN2 (E16K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2948185	NM_001103.4(ACTN2):c.49dup (p.Asp17fs)	ACTN2 (D17fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 43939	NM_001103.4(ACTN2):c.48G>A (p.Glu16=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1056162	NM_001103.4(ACTN2):c.53A>C (p.Glu18Ala)	ACTN2 (E18A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2010920	NM_001103.4(ACTN2):c.56A>G (p.Tyr19Cys)	ACTN2 (Y19C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1750372	NM_001103.4(ACTN2):c.58A>G (p.Met20Val)	ACTN2 (M20V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1064227	NM_001103.4(ACTN2):c.59T>C (p.Met20Thr)	ACTN2 (M20T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +5 more	GUncertain significance
Select item 463213	NM_001103.4(ACTN2):c.64C>T (p.Gln22Ter)	ACTN2 (Q22*)	Single nucleotide variant (nonsense +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2128326	NM_001103.4(ACTN2):c.65A>G (p.Gln22Arg)	ACTN2 (Q22R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 373783	NM_001103.4(ACTN2):c.65A>T (p.Gln22Leu)	ACTN2 (Q22L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 463214	NM_001103.4(ACTN2):c.66G>A (p.Gln22=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +3 more	GLikely benign
Select item 2125333	NM_001103.4(ACTN2):c.67G>C (p.Glu23Gln)	ACTN2 (E23Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1683917	NM_001103.4(ACTN2):c.82C>A (p.Arg28Ser)	ACTN2 (R28S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 180257	NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys)	ACTN2 (R28C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1710691	NM_001103.4(ACTN2):c.85G>A (p.Asp29Asn)	ACTN2 (D29N)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +2 more	GUncertain significance
Select item 1897531	NM_001103.4(ACTN2):c.93C>A (p.Leu31=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 43953	NM_001103.4(ACTN2):c.93C>T (p.Leu31=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 2562765	NM_001103.4(ACTN2):c.102del (p.Ala35fs)	ACTN2 (A35fs)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2946553	NM_001103.4(ACTN2):c.103G>A (p.Ala35Thr)	ACTN2 (A35T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 1163695	NM_001103.4(ACTN2):c.107G>A (p.Trp36Ter)	ACTN2 (W36*)	Single nucleotide variant (nonsense +1 more)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 532044	NM_001103.4(ACTN2):c.113A>G (p.Lys38Arg)	ACTN2 (K38R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GBenign
Select item 296496	NM_001103.4(ACTN2):c.122G>A (p.Arg41Lys)	ACTN2 (R41K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 2937089	NM_001103.4(ACTN2):c.126+2T>G	ACTN2	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 964189	NM_001103.4(ACTN2):c.126+3C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1954714	NM_001103.4(ACTN2):c.126+11dup	ACTN2	Duplication (intron variant)	Dilated cardiomyopathy 1AA +1 more	GBenign
Select item 1600560	NM_001103.4(ACTN2):c.126+11del	ACTN2	Deletion (intron variant)	Dilated cardiomyopathy 1AA +1 more	GBenign
Select item 1652954	NM_001103.4(ACTN2):c.126+13C>G	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1217284	NM_001103.4(ACTN2):c.126+13C>T	ACTN2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 201625	NM_001103.4(ACTN2):c.126+14C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +2 more	GBenign
Select item 1625022	NM_001103.4(ACTN2):c.126+15G>A	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 296497	NM_001103.4(ACTN2):c.126+15G>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 1546496	NM_001103.4(ACTN2):c.126+16C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 1614536	NM_001103.4(ACTN2):c.126+21_126+56del	ACTN2	Deletion (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 671981	NM_001103.4(ACTN2):c.126+157A>G	ACTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683075	NM_001103.4(ACTN2):c.126+331G>C	ACTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218071	NM_001103.4(ACTN2):c.127-271A>G	ACTN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1517197	NM_001103.4(ACTN2):c.127-20G>A	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2936853	NM_001103.4(ACTN2):c.127-15T>C	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 2050050	NM_001103.4(ACTN2):c.127-11T>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 1597600	NM_001103.4(ACTN2):c.127-8C>G	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 567483	NM_001103.4(ACTN2):c.127-3C>A	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +5 more	GUncertain significance
Select item 2203004	NM_001103.4(ACTN2):c.130T>C (p.Phe44Leu)	ACTN2 (F44L)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance

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