ClinVar for MedGen (Select 1648314) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3907657	NM_007078.3(LDB3):c.818del (p.Arg273fs)	LDB3 (R226fs +2 more)	Deletion (frameshift variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 3728608	NM_007078.3(LDB3):c.221A>T (p.Tyr74Phe)	LDB3 (Y74F)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3727727	NM_007078.3(LDB3):c.402C>G (p.Gly134=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 3726985	NM_007078.3(LDB3):c.1543C>A (p.Pro515Thr)	LDB3 (P468T +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3724072	NM_007078.3(LDB3):c.2049C>G (p.Ile683Met)	LDB3 (I573M +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3722082	NM_007078.3(LDB3):c.1469G>A (p.Trp490Ter)	LDB3 (W495* +4 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 4 +1 more	GConflicting classifications of pathogenicity
Select item 3719425	NM_001368067.1(LDB3):c.362G>A (p.Arg121His)	LDB3, LOC110121486 (R236H +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3718524	NM_007078.3(LDB3):c.1821C>T (p.Ala607=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3718219	NM_007078.3(LDB3):c.94-20C>G	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3717803	NM_007078.3(LDB3):c.117C>G (p.Ala39=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3716310	NM_007078.3(LDB3):c.385A>T (p.Ser129Cys)	LDB3 (S129C)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3713895	NM_007078.3(LDB3):c.1363C>T (p.Pro455Ser)	LDB3 (P345S +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3713253	NM_007078.3(LDB3):c.945G>C (p.Pro315=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3708748	NM_007078.3(LDB3):c.1679G>A (p.Gly560Asp)	LDB3 (G513D +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3708371	NM_007078.3(LDB3):c.975_992del (p.Ala327_Ala332del)	LDB3	Deletion (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3707775	NM_007078.3(LDB3):c.384C>T (p.Ala128=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 3706605	NM_007078.3(LDB3):c.1086-19C>G	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3705787	NM_007078.3(LDB3):c.689+3901A>G	LDB3, LOC110121486	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3704289	NM_007078.3(LDB3):c.663G>A (p.Lys221=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 3702577	NM_007078.3(LDB3):c.1297C>G (p.Pro433Ala)	LDB3 (P370A +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3701686	NM_001368067.1(LDB3):c.518A>T (p.Gln173Leu)	LDB3, LOC110121486 (Q173L +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3699002	NM_007078.3(LDB3):c.543C>G (p.Leu181=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 3698037	NM_007078.3(LDB3):c.1719A>G (p.Glu573=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3697345	NM_007078.3(LDB3):c.546C>T (p.Gly182=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 3697341	NM_001368067.1(LDB3):c.443C>T (p.Thr148Ile)	LDB3, LOC110121486 (T263I +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3692741	NM_007078.3(LDB3):c.1205G>A (p.Ser402Asn)	LDB3 (S339N +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 3689962	NM_007078.3(LDB3):c.1226A>G (p.Gln409Arg)	LDB3 (Q299R +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3689376	NM_007078.3(LDB3):c.859del (p.Met287fs)	LDB3 (M240fs +2 more)	Deletion (frameshift variant)	Myofibrillar myopathy 4	GPathogenic
Select item 3689139	NM_007078.3(LDB3):c.1771G>C (p.Glu591Gln)	LDB3 (E528Q +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3688167	NM_007078.3(LDB3):c.860-20C>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3687680	NM_001368067.1(LDB3):c.477C>T (p.Ser159=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 3686765	NM_007078.3(LDB3):c.83C>G (p.Thr28Ser)	LDB3 (T28S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3685126	NM_007078.3(LDB3):c.828C>T (p.Arg276=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3682932	NM_007078.3(LDB3):c.1086-11C>A	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3682138	NM_007078.3(LDB3):c.1591C>T (p.Leu531Phe)	LDB3 (L531F +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3679705	NM_007078.3(LDB3):c.690-17CT[2]	LDB3	Microsatellite (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3679389	NM_007078.3(LDB3):c.469G>C (p.Glu157Gln)	LDB3 (E157Q)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3679233	NM_007078.3(LDB3):c.1512G>A (p.Lys504=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3678706	NM_007078.3(LDB3):c.1437G>T (p.Gly479=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3674320	NM_001368067.1(LDB3):c.776G>T (p.Arg259Leu)	LDB3 (R259L +2 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3667445	NM_007078.3(LDB3):c.1598G>T (p.Arg533Met)	LDB3 (R423M +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3666521	NM_007078.3(LDB3):c.1761G>A (p.Val587=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3666400	NM_007078.3(LDB3):c.1675del (p.Arg559fs)	LDB3 (R564fs +4 more)	Deletion (frameshift variant)	Myofibrillar myopathy 4	GPathogenic
Select item 3665208	NM_007078.3(LDB3):c.705G>C (p.Lys235Asn)	LDB3 (K235N +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3664513	NM_007078.3(LDB3):c.1687C>T (p.Leu563=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3664093	NM_007078.3(LDB3):c.896+6687T>G	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3664084	NM_007078.3(LDB3):c.1882A>G (p.Thr628Ala)	LDB3 (T628A +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3663949	NM_001368067.1(LDB3):c.380T>C (p.Leu127Pro)	LDB3, LOC110121486 (L127P +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3662567	NM_007078.3(LDB3):c.2095-18G>T	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3662371	NM_007078.3(LDB3):c.210G>A (p.Lys70=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3661809	NM_007078.3(LDB3):c.1488C>T (p.Phe496=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3661675	NM_007078.3(LDB3):c.18C>G (p.Thr6=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3661674	NM_007078.3(LDB3):c.16dup (p.Thr6fs)	LDB3 (T6fs)	Duplication (frameshift variant)	Myofibrillar myopathy 4	GPathogenic
Select item 3661342	NM_007078.3(LDB3):c.61A>G (p.Lys21Glu)	LDB3 (K21E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3661250	NM_007078.3(LDB3):c.94-13A>G	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3659202	NM_001368067.1(LDB3):c.528C>G (p.Ala176=)	LDB3, LOC110121486	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 3656237	NM_001368067.1(LDB3):c.440C>G (p.Ala147Gly)	LDB3, LOC110121486 (A262G +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3654209	NM_007078.3(LDB3):c.392del (p.Gly131fs)	LDB3 (G131fs)	Deletion (frameshift variant +1 more)	Myofibrillar myopathy 4	GPathogenic
Select item 3652440	NM_007078.3(LDB3):c.322-16G>A	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3650743	NM_007078.3(LDB3):c.245+1G>A	LDB3	Single nucleotide variant (splice donor variant)	Myofibrillar myopathy 4	GLikely pathogenic
Select item 3647984	NM_007078.3(LDB3):c.86T>A (p.Ile29Asn)	LDB3 (I29N)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3647327	NM_007078.3(LDB3):c.691A>T (p.Ser231Cys)	LDB3 (S184C +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3642800	NM_007078.3(LDB3):c.1440C>T (p.Gly480=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3642741	NM_007078.3(LDB3):c.1973A>G (p.Glu658Gly)	LDB3 (E663G +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3641897	NM_007078.3(LDB3):c.59G>T (p.Gly20Val)	LDB3 (G20V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3640776	NM_001368067.1(LDB3):c.448A>G (p.Ile150Val)	LDB3, LOC110121486 (I150V +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3629010	NM_007078.3(LDB3):c.1420T>C (p.Ser474Pro)	LDB3 (S364P +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3628420	NM_007078.3(LDB3):c.1948A>G (p.Met650Val)	LDB3 (M540V +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3627458	NM_007078.3(LDB3):c.1997G>A (p.Ser666Asn)	LDB3 (S556N +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3627437	NM_007078.3(LDB3):c.246-13C>A	LDB3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 4	GLikely benign
Select item 3621111	NM_007078.3(LDB3):c.904A>G (p.Ile302Val)	LDB3 (I255V +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3616579	NM_007078.3(LDB3):c.574C>T (p.Pro192Ser)	LDB3 (P192S)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3614252	NM_001368067.1(LDB3):c.544A>C (p.Ser182Arg)	LDB3, LOC110121486 (S182R +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3614035	NM_007078.3(LDB3):c.1165G>C (p.Ala389Pro)	LDB3 (A279P +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3607014	NM_007078.3(LDB3):c.1415C>T (p.Ala472Val)	LDB3 (A362V +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 3606546	NM_007078.3(LDB3):c.464T>C (p.Leu155Pro)	LDB3 (L155P)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 3537684	NM_007078.3(LDB3):c.526G>C (p.Gly176Arg)	LDB3 (G176R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3290348	NM_007078.3(LDB3):c.1939C>T (p.Leu647Phe)	LDB3 (L537F +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	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 3225983	NM_007078.3(LDB3):c.1960G>A (p.Glu654Lys)	LDB3 (E544K +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	GUncertain significance
Select item 3225979	NM_007078.3(LDB3):c.1438G>A (p.Gly480Ser)	LDB3 (G370S +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +2 more	GUncertain significance
Select item 3225978	NM_007078.3(LDB3):c.1345C>T (p.Pro449Ser)	LDB3 (P449S +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +1 more	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 +1 more	GUncertain significance
Select item 3029213	NM_007078.3(LDB3):c.2103T>C (p.His701=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4 +1 more	GConflicting classifications of pathogenicity
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)	Cardiovascular phenotype +1 more	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

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