ClinVar for MedGen (Select 1648314) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 (missense 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 (synonymous 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 (intron 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
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 2797975	NM_001368067.1(LDB3):c.322-1G>A	LDB3, LOC110121486	Single nucleotide variant (intron variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2797942	NM_007078.3(LDB3):c.732C>G (p.Pro244=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2796708	NM_007078.3(LDB3):c.573G>A (p.Gln191=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 2791898	NM_007078.3(LDB3):c.868C>A (p.Pro290Thr)	LDB3 (P358T +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2791443	NM_007078.3(LDB3):c.1086-247_1231+2del	LDB3	Deletion (splice acceptor variant +1 more)	Myofibrillar myopathy 4	GPathogenic
Select item 2786053	NM_001368067.1(LDB3):c.371C>T (p.Pro124Leu)	LDB3, LOC110121486 (P124L +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2782171	NM_007078.3(LDB3):c.398_454dup (p.Ala151_Phe152insSerGlyThrProGluLeuArgProThrPheSerProAlaPheSerArgProSerAla)	LDB3	Duplication (inframe_insertion +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2781244	NM_007078.3(LDB3):c.1341C>G (p.Pro447=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2780455	NM_007078.3(LDB3):c.897C>T (p.Ser299=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2777855	NM_001368067.1(LDB3):c.452A>G (p.His151Arg)	LDB3, LOC110121486 (H151R +1 more)	Single nucleotide variant (missense variant +1 more)	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 2767907	NM_007078.3(LDB3):c.2055C>T (p.Ala685=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	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 2763135	NM_007078.3(LDB3):c.960T>C (p.Ser320=)	LDB3	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2762584	NM_007078.3(LDB3):c.1515C>T (p.Ser505=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2747680	NM_007078.3(LDB3):c.1679G>T (p.Gly560Val)	LDB3 (G450V +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2744320	NM_007078.3(LDB3):c.1231+14dup	LDB3	Duplication (intron variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2740277	NM_007078.3(LDB3):c.1088C>G (p.Pro363Arg)	LDB3 (P253R +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2737500	NM_007078.3(LDB3):c.1445C>G (p.Ala482Gly)	LDB3 (A435G +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2733907	NM_007078.3(LDB3):c.59dup (p.Lys21fs)	LDB3 (K21fs)	Duplication (frameshift variant)	Myofibrillar myopathy 4	GPathogenic
Select item 2731288	NM_007078.3(LDB3):c.1547G>T (p.Arg516Leu)	LDB3 (R469L +4 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4	GUncertain significance
Select item 2729370	NM_007078.3(LDB3):c.834G>A (p.Leu278=)	LDB3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 4	GLikely benign
Select item 2727995	NM_007078.3(LDB3):c.934G>A (p.Ala312Thr)	LDB3 (A265T +1 more)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 4	GUncertain significance
Select item 2721182	NM_001368067.1(LDB3):c.837T>C (p.Leu279=)	LDB3	Single nucleotide variant (intron variant +1 more)	Myofibrillar myopathy 4	GLikely benign
Select item 2720857	NM_007078.3(LDB3):c.566C>A (p.Ser189Ter)	LDB3 (S189*)	Single nucleotide variant (nonsense +1 more)	Myofibrillar myopathy 4	GLikely benign

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