11155[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1387

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 2640653	NM_001368063.1(LDB3):c.-35G>T	LDB3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 669632	NM_007078.2(LDB3):c.-413A>G	LDB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674112	NM_007078.2(LDB3):c.-402G>A	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683005	NM_007078.2(LDB3):c.-373A>T	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671123	NM_007078.2(LDB3):c.-291T>C	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671243	NM_007078.2(LDB3):c.-282G>T	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378078	NM_007078.3(LDB3):c.-49C>T	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 380120	NM_007078.3(LDB3):c.-48G>T	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 138104	NM_007078.3(LDB3):c.-48G>A	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 138105	NM_007078.3(LDB3):c.-36A>G	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 417392	NC_000010.11:g.(?_86668564)_(86700053_?)del	LDB3, LOC110121486 +2 more	Deletion	Myofibrillar myopathy 4	GUncertain significance
Select item 1307964	NM_007078.3(LDB3):c.-24+5G>C	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 138106	NM_007078.3(LDB3):c.-24+8T>C	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	Left ventricular noncompaction cardiomyopathy +5 more	GBenign/Likely benign
Select item 387455	NM_007078.3(LDB3):c.-24+18G>A	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 301330	NM_007078.3(LDB3):c.-24+41G>A	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 301331	NM_007078.3(LDB3):c.-23-32C>A	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 383155	NM_007078.3(LDB3):c.-23-20T>C	LOC130004243, LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 880080	NM_007078.3(LDB3):c.-20C>T	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1C +1 more	GUncertain significance
Select item 532937	NC_000010.11:g.(?_86668672)_(86710070_?)del	LDB3, LOC110121486 +2 more	Deletion	Myofibrillar myopathy 4	GUncertain significance
Select item 379080	NM_007078.3(LDB3):c.-19G>A	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 389072	NM_007078.3(LDB3):c.-18G>A	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2445923	NM_007078.3(LDB3):c.-16C>T	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 228794	NM_007078.3(LDB3):c.-15G>A	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1736891	NM_007078.3(LDB3):c.-3A>G	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype	GUncertain significance
Select item 2433418	NM_007078.3(LDB3):c.-2G>A	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 626459	NM_007078.3(LDB3):c.-1C>A	LDB3, LOC130004243	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 567162	NM_007078.3(LDB3):c.4T>A (p.Ser2Thr)	LDB3 (S2T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 626702	NM_007078.3(LDB3):c.5C>A (p.Ser2Tyr)	LDB3 (S2Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 180025	NM_007078.3(LDB3):c.10A>C (p.Ser4Arg)	LDB3 (S4R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1179890	NM_007078.3(LDB3):c.11G>A (p.Ser4Asn)	LDB3 (S4N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2078326	NM_007078.3(LDB3):c.12T>C (p.Ser4=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2196365	NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)	LDB3	Duplication (inframe_insertion)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 1308092	NM_007078.3(LDB3):c.13G>A (p.Val5Met)	LDB3 (V5M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1594389	NM_007078.3(LDB3):c.21G>T (p.Leu7=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 406807	NM_007078.3(LDB3):c.23C>A (p.Thr8Asn)	LDB3 (T8N)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1794910	NM_007078.3(LDB3):c.26G>T (p.Gly9Val)	LDB3 (G9V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 706487	NM_007078.3(LDB3):c.30C>T (p.Pro10=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 301332	NM_007078.3(LDB3):c.30C>G (p.Pro10=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 2800891	NM_007078.3(LDB3):c.31G>T (p.Gly11Trp)	LDB3 (G11W)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1007871	NM_007078.3(LDB3):c.31G>A (p.Gly11Arg)	LDB3 (G11R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3225985	NM_007078.3(LDB3):c.35C>T (p.Pro12Leu)	LDB3 (P12L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 626703	NM_007078.3(LDB3):c.36C>A (p.Pro12=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 2038578	NM_007078.3(LDB3):c.46C>T (p.Arg16Cys)	LDB3 (R16C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 969485	NM_007078.3(LDB3):c.47G>A (p.Arg16His)	LDB3 (R16H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 1516531	NM_007078.3(LDB3):c.50T>C (p.Leu17Pro)	LDB3 (L17P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1644224	NM_007078.3(LDB3):c.51G>A (p.Leu17=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2733907	NM_007078.3(LDB3):c.59dup (p.Lys21fs)	LDB3 (K21fs)	Duplication (frameshift variant)	Myofibrillar myopathy 4	GPathogenic
Select item 1747952	NM_007078.3(LDB3):c.54G>A (p.Gln18=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1175152	NM_007078.3(LDB3):c.59del (p.Gly20fs)	LDB3 (G20fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 201856	NM_007078.3(LDB3):c.54G>T (p.Gln18His)	LDB3 (Q18H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1C +4 more	GUncertain significance
Select item 967392	NM_007078.3(LDB3):c.55G>C (p.Gly19Arg)	LDB3 (G19R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 651199	NM_007078.3(LDB3):c.55G>A (p.Gly19Arg)	LDB3 (G19R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 642479	NM_007078.3(LDB3):c.55G>T (p.Gly19Trp)	LDB3 (G19W)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 1306084	NM_007078.3(LDB3):c.56G>C (p.Gly19Ala)	LDB3 (G19A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 936330	NM_007078.3(LDB3):c.56G>A (p.Gly19Glu)	LDB3 (G19E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2847621	NM_007078.3(LDB3):c.58G>A (p.Gly20Ser)	LDB3 (G20S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1421904	NM_007078.3(LDB3):c.59G>A (p.Gly20Asp)	LDB3 (G20D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 691827	NM_007078.3(LDB3):c.66C>A (p.Asp22Glu)	LDB3 (D22E)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2903516	NM_007078.3(LDB3):c.72C>T (p.Asn24=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 567732	NM_007078.3(LDB3):c.72C>A (p.Asn24Lys)	LDB3 (N24K)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +2 more	GUncertain significance
Select item 2127219	NM_007078.3(LDB3):c.74T>C (p.Met25Thr)	LDB3 (M25T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1305257	NM_007078.3(LDB3):c.76C>T (p.Pro26Ser)	LDB3 (P26S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 452207	NM_007078.3(LDB3):c.79C>T (p.Leu27Phe)	LDB3 (L27F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372570	NM_007078.3(LDB3):c.80T>C (p.Leu27Pro)	LDB3 (L27P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +2 more	GUncertain significance
Select item 1762411	NM_007078.3(LDB3):c.81C>T (p.Leu27=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 496340	NM_007078.3(LDB3):c.81C>G (p.Leu27=)	LDB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2003750	NM_007078.3(LDB3):c.89C>G (p.Ser30Cys)	LDB3 (S30C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 934126	NM_007078.3(LDB3):c.89C>A (p.Ser30Tyr)	LDB3 (S30Y)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1043754	NM_007078.3(LDB3):c.91C>G (p.Arg31Gly)	LDB3 (R31G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 201857	NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)	LDB3 (R31W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 652580	NM_007078.3(LDB3):c.92G>A (p.Arg31Gln)	LDB3 (R31Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1470600	NM_007078.3(LDB3):c.93G>A (p.Arg31=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 179706	NM_007078.3(LDB3):c.93+1G>T	LDB3	Single nucleotide variant (splice donor variant)	not specified +1 more	GUncertain significance
Select item 45559	NM_007078.3(LDB3):c.93+7G>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4 +1 more	GLikely benign
Select item 2959054	NM_007078.3(LDB3):c.93+10C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 513451	NM_007078.3(LDB3):c.93+10C>A	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4 +1 more	GLikely benign
Select item 668453	NM_007078.3(LDB3):c.93+12C>T	LDB3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1613445	NM_007078.3(LDB3):c.93+17A>G	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 1644296	NM_007078.3(LDB3):c.93+18C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 675368	NM_007078.3(LDB3):c.93+165C>A	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672746	NM_007078.3(LDB3):c.93+177C>T	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239425	NM_007078.3(LDB3):c.93+253CAGG[8]	LDB3	Microsatellite (intron variant)	not provided	GBenign
Select item 1214773	NM_007078.3(LDB3):c.93+272_93+273insGAGG	LDB3	Insertion (intron variant)	not provided	GLikely benign
Select item 683604	NM_007078.3(LDB3):c.94-294T>C	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675369	NM_007078.3(LDB3):c.94-124G>A	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675987	NM_007078.3(LDB3):c.94-119G>C	LDB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672518	NM_007078.3(LDB3):c.94-119G>A	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 14