LDB3[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1190

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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_001368063.1(LDB3):c.-23-390A>G	LDB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674112	NM_001368063.1(LDB3):c.-23-379G>A	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683005	NM_001368063.1(LDB3):c.-23-350A>T	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671123	NM_001368063.1(LDB3):c.-23-268T>C	LDB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671243	NM_001368063.1(LDB3):c.-23-259G>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	GBenign
Select item 138105	NM_007078.3(LDB3):c.-36A>G	LDB3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
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 +4 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)	not provided +4 more	GConflicting classifications of pathogenicity
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)	not provided +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)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1308092	NM_007078.3(LDB3):c.13G>A (p.Val5Met)	LDB3 (V5M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +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)	Cardiovascular phenotype +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)	Primary familial dilated cardiomyopathy +4 more	GUncertain significance
Select item 967392	NM_007078.3(LDB3):c.55G>C (p.Gly19Arg)	LDB3 (G19R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +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	GUncertain significance
Select item 1306084	NM_007078.3(LDB3):c.56G>C (p.Gly19Ala)	LDB3 (G19A)	Single nucleotide variant (missense variant)	not provided +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)	not provided +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)	not specified +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	GUncertain significance
Select item 201857	NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)	LDB3 (R31W)	Single nucleotide variant (missense variant)	not provided +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)	not specified +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)	not specified +1 more	GLikely benign
Select item 668453	NM_007078.3(LDB3):c.93+12C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4 +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
Select item 1284553	NM_007078.3(LDB3):c.94-20C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2150458	NM_007078.3(LDB3):c.94-17C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 1898004	NM_007078.3(LDB3):c.94-14C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 571578	NM_007078.3(LDB3):c.94-9T>C	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2637808	NM_007078.3(LDB3):c.94-1G>C	LDB3	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2764822	NM_007078.3(LDB3):c.94A>G (p.Ile32Val)	LDB3 (I32V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 532923	NM_007078.3(LDB3):c.99dup (p.Pro34fs)	LDB3 (P34fs)	Duplication (frameshift variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2772123	NM_007078.3(LDB3):c.101C>G (p.Pro34Arg)	LDB3 (P34R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1779790	NM_007078.3(LDB3):c.105C>T (p.Gly35=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1395518	NM_007078.3(LDB3):c.108C>G (p.Ser36Arg)	LDB3 (S36R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2703588	NM_007078.3(LDB3):c.110A>G (p.Lys37Arg)	LDB3 (K37R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1373880	NM_007078.3(LDB3):c.110A>T (p.Lys37Met)	LDB3 (K37M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1797508	NM_007078.3(LDB3):c.116_245+122del	LDB3	Deletion (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733431	NM_007078.3(LDB3):c.114A>C (p.Ala38=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4 +1 more	GLikely benign
Select item 959579	NM_007078.3(LDB3):c.115G>C (p.Ala39Pro)	LDB3 (A39P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 1154244	NM_007078.3(LDB3):c.123C>T (p.Ser41=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4 +1 more	GLikely benign
Select item 393019	NM_007078.3(LDB3):c.133C>T (p.Gln45Ter)	LDB3 (Q45*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 45517	NM_007078.3(LDB3):c.139G>A (p.Asp47Asn)	LDB3 (D47N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1665841	NM_007078.3(LDB3):c.144C>A (p.Leu48=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1604246	NM_007078.3(LDB3):c.144C>G (p.Leu48=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 45518	NM_007078.3(LDB3):c.144C>T (p.Leu48=)	LDB3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1026525	NM_007078.3(LDB3):c.145G>A (p.Val49Met)	LDB3 (V49M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 864365	NM_007078.3(LDB3):c.145G>C (p.Val49Leu)	LDB3 (V49L)	Single nucleotide variant (missense variant)	LDB3-related disorder +4 more	GUncertain significance
Select item 2121025	NM_007078.3(LDB3):c.147G>T (p.Val49=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign

<< First< Prev

Page of 12