ClinVar for Gene (Select 11155) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255551	NM_007078.3(LDB3):c.1324G>C (p.Ala442Pro)	LDB3 (A332P +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 3252502	NM_007078.3(LDB3):c.1287C>A (p.Tyr429Ter)	LDB3 (Y319* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3252126	NM_007078.3(LDB3):c.1938C>G (p.Ser646Arg)	LDB3 (S536R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244838	NC_000010.10:g.(?_88469652)_(88492743_?)dup	LDB3	Duplication	Myofibrillar myopathy 4	GUncertain significance
Select item 3244837	NC_000010.10:g.(?_88428449)_(88659903_?)dup	BMPR1A, LDB3	Duplication	Myofibrillar myopathy 4	GUncertain significance
Select item 3244836	NC_000010.10:g.(?_88445415)_(88451842_?)del	LDB3	Deletion	Myofibrillar myopathy 4	GUncertain significance
Select item 3225990	NM_007078.3(LDB3):c.938C>A (p.Thr313Asn)	LDB3 (T266N +1 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3225989	NM_007078.3(LDB3):c.690-1G>T	LDB3	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225988	NM_007078.3(LDB3):c.686G>A (p.Gly229Glu)	LDB3 (G229E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3225987	NM_007078.3(LDB3):c.594del (p.Ile199fs)	LDB3 (I199fs)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3225986	NM_007078.3(LDB3):c.538C>T (p.Leu180=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
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 3225984	NM_007078.3(LDB3):c.2000C>T (p.Thr667Ile)	LDB3 (T557I +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225983	NM_007078.3(LDB3):c.1960G>A (p.Glu654Lys)	LDB3 (E544K +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225982	NM_007078.3(LDB3):c.1689G>A (p.Leu563=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225981	NM_007078.3(LDB3):c.1544C>T (p.Pro515Leu)	LDB3 (P405L +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225980	NM_007078.3(LDB3):c.1497G>A (p.Lys499=)	LDB3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225979	NM_007078.3(LDB3):c.1438G>A (p.Gly480Ser)	LDB3 (G370S +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +1 more	GUncertain significance
Select item 3225978	NM_007078.3(LDB3):c.1345C>T (p.Pro449Ser)	LDB3 (P449S +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225977	NM_007078.3(LDB3):c.1265C>A (p.Ala422Asp)	LDB3 (A312D +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225976	NM_007078.3(LDB3):c.1057C>T (p.Pro353Ser)	LDB3 (P306S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3118215	NM_007078.3(LDB3):c.488C>T (p.Pro163Leu)	LDB3 (P163L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3118214	NM_007078.3(LDB3):c.1529G>A (p.Ser510Asn)	LDB3 (S447N +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3118213	NM_007078.3(LDB3):c.1171C>T (p.Pro391Ser)	LDB3 (P328S +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063131	GRCh37/hg19 10q23.2(chr10:88376441-88628991)x3	BMPR1A, LDB3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3047432	NM_007078.3(LDB3):c.447C>G (p.Pro149=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	LDB3-related disorder	GLikely benign
Select item 3041152	NM_007078.3(LDB3):c.896+6669TC[8]	LDB3	Microsatellite (intron variant)	LDB3-related disorder	GLikely benign
Select item 3029213	NM_007078.3(LDB3):c.2103T>C (p.His701=)	LDB3	Single nucleotide variant (synonymous variant)	LDB3-related disorder	GLikely benign
Select item 3022741	NM_007078.3(LDB3):c.1978+13C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3018352	NM_007078.3(LDB3):c.1232-19T>G	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3014611	NM_007078.3(LDB3):c.603G>A (p.Leu201=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 3013344	NM_007078.3(LDB3):c.2137A>G (p.Lys713Glu)	LDB3 (K666E +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3010656	NM_007078.3(LDB3):c.859+9A>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3010368	NM_007078.3(LDB3):c.941C>T (p.Thr314Ile)	LDB3 (T267I +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3009121	NM_007078.3(LDB3):c.195C>A (p.Ala65=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3007565	NM_007078.3(LDB3):c.168C>T (p.Asn56=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4 +1 more	GLikely benign
Select item 3005590	NM_007078.3(LDB3):c.1827G>C (p.Leu609=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3005223	NM_007078.3(LDB3):c.468C>G (p.Ala156=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 3005154	NM_007078.3(LDB3):c.1990C>T (p.Leu664=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3000778	NM_007078.3(LDB3):c.256C>T (p.Pro86Ser)	LDB3 (P86S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2997665	NM_001368067.1(LDB3):c.491A>G (p.Asp164Gly)	LDB3, LOC110121486 (D164G +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2994956	NM_007078.3(LDB3):c.859+9A>C	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2989272	NM_007078.3(LDB3):c.763A>G (p.Lys255Glu)	LDB3 (K208E +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2986793	NM_007078.3(LDB3):c.175A>G (p.Thr59Ala)	LDB3 (T59A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2976314	NM_007078.3(LDB3):c.614A>C (p.Glu205Ala)	LDB3 (E205A)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2973466	NM_007078.3(LDB3):c.815C>T (p.Ser272Phe)	LDB3 (S225F +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2972567	NM_007078.3(LDB3):c.245+20_245+24del	LDB3	Deletion (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2971350	NM_007078.3(LDB3):c.1676G>T (p.Arg559Leu)	LDB3 (R564L +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2967633	NM_007078.3(LDB3):c.689+12A>G	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2964331	NM_001368067.1(LDB3):c.775C>T (p.Arg259Cys)	LDB3 (R374C +2 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2962637	NM_007078.3(LDB3):c.1027A>G (p.Thr343Ala)	LDB3 (T343A +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2959372	NM_007078.3(LDB3):c.690-4619G>A	LDB3, LOC110121486	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2959054	NM_007078.3(LDB3):c.93+10C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2916639	NM_007078.3(LDB3):c.1287C>T (p.Tyr429=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2912769	NM_007078.3(LDB3):c.489T>A (p.Pro163=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 2910799	NM_007078.3(LDB3):c.896+6701C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2910702	NM_007078.3(LDB3):c.690-4843C>T	LDB3, LOC110121486	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2904811	NM_007078.3(LDB3):c.896+6696C>G	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
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 2902663	NM_001368067.1(LDB3):c.369C>A (p.Asn123Lys)	LDB3, LOC110121486 (N123K +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2895480	NM_007078.3(LDB3):c.1234C>T (p.Pro412Ser)	LDB3 (P302S +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2895400	NM_007078.3(LDB3):c.2085C>T (p.Phe695=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2893823	NM_007078.3(LDB3):c.859+20G>A	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2891201	NM_007078.3(LDB3):c.472G>T (p.Ala158Ser)	LDB3 (A158S)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2889296	NM_007078.3(LDB3):c.1248C>T (p.Tyr416=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2883602	NM_007078.3(LDB3):c.591C>T (p.Asn197=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 2882209	NM_007078.3(LDB3):c.258C>T (p.Pro86=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2881741	NM_007078.3(LDB3):c.1028C>T (p.Thr343Ile)	LDB3 (T296I +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2879202	NM_007078.3(LDB3):c.1379C>T (p.Ala460Val)	LDB3 (A397V +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2876940	NM_007078.3(LDB3):c.246-3C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2875835	NM_001368067.1(LDB3):c.338C>T (p.Pro113Leu)	LDB3, LOC110121486 (P113L)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2867926	NM_007078.3(LDB3):c.930C>A (p.Ser310Arg)	LDB3 (S310R +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2867058	NM_007078.3(LDB3):c.1369C>T (p.Pro457Ser)	LDB3 (P462S +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2865171	NM_001368067.1(LDB3):c.847del (p.Ser283fs)	LDB3 (S283fs +2 more)	Deletion (frameshift variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2863433	NM_001368067.1(LDB3):c.410C>A (p.Pro137His)	LDB3, LOC110121486 (P137H +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2863160	NM_007078.3(LDB3):c.1978+17G>A	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2861619	NM_007078.3(LDB3):c.2110C>A (p.Leu704Met)	LDB3 (L641M +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2857599	NM_007078.3(LDB3):c.1857+16C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2857079	NM_007078.3(LDB3):c.246-1G>A	LDB3	Single nucleotide variant (splice acceptor variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2856200	NM_007078.3(LDB3):c.1689G>T (p.Leu563=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2854959	NM_007078.3(LDB3):c.896+6669TC[4]	LDB3	Microsatellite (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2852908	NM_007078.3(LDB3):c.1231+12A>G	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2852563	NM_007078.3(LDB3):c.1069C>T (p.Pro357Ser)	LDB3 (P357S +1 more)	Single nucleotide variant (intron variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2851031	NM_007078.3(LDB3):c.932A>C (p.Gln311Pro)	LDB3 (Q264P +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2848276	NM_001368067.1(LDB3):c.394C>T (p.Leu132=)	LDB3, LOC110121486	Single nucleotide variant (intron variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 2847776	NM_001368067.1(LDB3):c.374G>A (p.Ser125Asn)	LDB3, LOC110121486 (S240N +1 more)	Single nucleotide variant (missense variant +1 more)	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 2844194	NM_001368067.1(LDB3):c.503A>T (p.Asp168Val)	LDB3, LOC110121486 (D283V +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2843271	NM_001368067.1(LDB3):c.420G>C (p.Val140=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 2830302	NM_007078.3(LDB3):c.1570G>A (p.Ala524Thr)	LDB3 (A529T +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2828222	NM_007078.3(LDB3):c.961G>A (p.Ala321Thr)	LDB3 (A321T +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2827514	NM_007078.3(LDB3):c.923G>C (p.Cys308Ser)	LDB3 (C308S +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2825796	NM_007078.3(LDB3):c.341A>G (p.Asn114Ser)	LDB3 (N114S)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 2824278	NM_007078.3(LDB3):c.1604C>T (p.Thr535Ile)	LDB3 (T540I +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2821167	NM_007078.3(LDB3):c.928A>G (p.Ser310Gly)	LDB3 (S263G +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2815684	NM_007078.3(LDB3):c.1310A>G (p.Tyr437Cys)	LDB3 (Y442C +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2813610	NM_007078.3(LDB3):c.2109T>A (p.Asn703Lys)	LDB3 (N640K +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2811254	NM_007078.3(LDB3):c.1232-11G>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2807651	NM_007078.3(LDB3):c.1760T>C (p.Val587Ala)	LDB3 (V540A +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance

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