ClinVar for MedGen (Select 96078) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338355	NM_001159699.2(FHL1):c.230G>A (p.Trp77Ter)	FHL1 (W61* +2 more)	Single nucleotide variant (nonsense +1 more)	Emery-Dreifuss muscular dystrophy	GLikely pathogenic
Select item 3245726	NC_000007.13:g.(?_872162)_(872258_?)dup	SUN1	Duplication	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3245725	NC_000007.13:g.(?_872162)_(912968_?)dup	SUN1	Duplication	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3245724	NC_000007.13:g.(?_769280)_(883177_?)del	DNAAF5, SUN1	Deletion	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3245722	NC_000007.13:g.(?_288261)_(912968_?)del	PDGFA, PRKAR1B +3 more	Deletion	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3233815	NM_006767.4(LZTR1):c.495G>A (p.Trp165Ter)	LZTR1 (W165*)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy +1 more	GPathogenic
Select item 3021076	NM_015374.3(SUN2):c.614+18C>T	SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3015083	NM_015374.3(SUN2):c.520+18C>G	SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3009768	NM_001130965.3(SUN1):c.757+11T>C	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3009617	NM_015374.3(SUN2):c.1663+5G>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3008954	NM_015374.3(SUN2):c.1765C>T (p.Arg589Ter)	GTPBP1, SUN2 (R588* +9 more)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3008172	NM_015374.3(SUN2):c.1058C>G (p.Ala353Gly)	GTPBP1, SUN2 (A189G +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3006729	NM_001130965.3(SUN1):c.2242-10T>C	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3006604	NM_015374.3(SUN2):c.55A>G (p.Ser19Gly)	SUN2 (S19G)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2998760	NM_001130965.3(SUN1):c.2057T>C (p.Ile686Thr)	SUN1 (I569T +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2996550	NM_015374.3(SUN2):c.1593C>T (p.Ile531=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2995171	NM_001130965.3(SUN1):c.1395-14C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2994507	NM_015374.3(SUN2):c.1057G>A (p.Ala353Thr)	GTPBP1, SUN2 (A323T +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2986756	NM_015374.3(SUN2):c.167C>T (p.Ala56Val)	SUN2 (A56V)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2982068	NM_001130965.3(SUN1):c.1136A>G (p.His379Arg)	SUN1 (H190R +45 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2969875	NM_001130965.3(SUN1):c.449G>C (p.Trp150Ser)	SUN1 (W100S +4 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2969859	NM_015374.3(SUN2):c.1521C>T (p.Ala507=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2966389	NM_001130965.3(SUN1):c.1612T>A (p.Ser538Thr)	SUN1 (S349T +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2966182	NM_001130965.3(SUN1):c.1042C>A (p.Gln348Lys)	SUN1 (Q110K +45 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2961547	NM_001130965.3(SUN1):c.1902C>G (p.Tyr634Ter)	SUN1 (Y396* +50 more)	Single nucleotide variant (nonsense +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2960091	NM_001130965.3(SUN1):c.2108C>G (p.Thr703Arg)	SUN1 (T514R +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2958155	NM_001130965.3(SUN1):c.71C>T (p.Ala24Val)	LOC126859921, SUN1 (A24V +1 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2956297	NM_001130965.3(SUN1):c.251A>G (p.Lys84Arg)	SUN1 (K34R +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2920355	NM_015374.3(SUN2):c.348C>T (p.Ser116=)	SUN2	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2919462	NM_015374.3(SUN2):c.929T>C (p.Leu310Pro)	GTPBP1, SUN2 (L325P +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2918008	NM_015374.3(SUN2):c.1485T>C (p.His495=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2917981	NM_001130965.3(SUN1):c.1517A>G (p.Gln506Arg)	SUN1 (Q268R +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2916738	NM_001130965.3(SUN1):c.241G>C (p.Val81Leu)	SUN1 (V31L +3 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2915153	NM_015374.3(SUN2):c.1664-8T>C	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2914131	NM_015374.3(SUN2):c.1838T>C (p.Val613Ala)	GTPBP1, SUN2 (V449A +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2914018	NM_001130965.3(SUN1):c.2241+16G>A	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2912637	NM_015374.3(SUN2):c.2013C>T (p.Gly671=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2912193	NM_001130965.3(SUN1):c.2320C>G (p.Leu774Val)	SUN1 (L692V +62 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2912023	NM_015374.3(SUN2):c.1184G>A (p.Trp395Ter)	GTPBP1, SUN2 (W231* +6 more)	Single nucleotide variant (nonsense +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2910686	NM_015374.3(SUN2):c.286+19G>A	SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2910668	NM_015374.3(SUN2):c.486G>A (p.Ala162=)	SUN2	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2908976	NM_001130965.3(SUN1):c.267-9del	SUN1	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy	GBenign
Select item 2908323	NM_001130965.3(SUN1):c.1215C>T (p.Ala405=)	SUN1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2902032	NM_001130965.3(SUN1):c.388C>T (p.Arg130Ter)	SUN1 (R130* +4 more)	Single nucleotide variant (nonsense +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2901405	NM_015374.3(SUN2):c.686-13C>G	SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2901049	NM_001130965.3(SUN1):c.1290A>G (p.Glu430=)	SUN1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2900906	NM_001130965.3(SUN1):c.544G>A (p.Gly182Ser)	SUN1 (G182S +5 more)	Single nucleotide variant (missense variant +4 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2900529	NM_001130965.3(SUN1):c.1980+12C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2895501	NM_015374.3(SUN2):c.823C>T (p.Arg275Cys)	GTPBP1, SUN2 (R275C +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2895185	NM_001130965.3(SUN1):c.1577A>G (p.Gln526Arg)	SUN1 (Q337R +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2882983	NM_015374.3(SUN2):c.321G>A (p.Thr107=)	SUN2	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2880691	NM_001130965.3(SUN1):c.932A>G (p.Gln311Arg)	SUN1 (Q408R +44 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2875255	NM_015374.3(SUN2):c.814-17T>G	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2871478	NM_015374.3(SUN2):c.992T>C (p.Leu331Pro)	GTPBP1, SUN2 (L167P +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2869676	NM_015374.3(SUN2):c.1585C>T (p.His529Tyr)	GTPBP1, SUN2 (H396Y +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2867254	NM_015374.3(SUN2):c.520+14C>T	SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2866330	NM_015374.3(SUN2):c.2048C>T (p.Thr683Met)	SUN2, GTPBP1 (T491M +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2863617	NM_015374.3(SUN2):c.1400G>A (p.Arg467Gln)	GTPBP1, SUN2 (R303Q +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2860440	NM_001130965.3(SUN1):c.1074G>A (p.Pro358=)	SUN1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2859109	NM_001130965.3(SUN1):c.1779+15C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2859106	NM_001130965.3(SUN1):c.1478G>A (p.Arg493Gln)	SUN1 (R340Q +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2847731	NM_001130965.3(SUN1):c.1358A>G (p.Gln453Arg)	SUN1 (Q370R +50 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2838854	NM_001130965.3(SUN1):c.659-10C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2829253	NM_015374.3(SUN2):c.449G>C (p.Ser150Thr)	SUN2 (S171T +4 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2827892	NM_001130965.3(SUN1):c.240T>C (p.Ala80=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2827616	NM_015374.3(SUN2):c.1290G>T (p.Leu430=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2824589	NM_015374.3(SUN2):c.1579C>G (p.Gln527Glu)	GTPBP1, SUN2 (Q335E +8 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2816436	NM_015374.3(SUN2):c.1146+15G>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2814667	NM_001130965.3(SUN1):c.2277A>G (p.Glu759=)	SUN1 (T762A)	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2813196	NM_001130965.3(SUN1):c.994G>C (p.Val332Leu)	SUN1 (V215L +45 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2800839	NM_001130965.3(SUN1):c.1230G>T (p.Ser410=)	SUN1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2799837	NM_001130965.3(SUN1):c.911-3T>C	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2797750	NM_001130965.3(SUN1):c.852-5C>T	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2795152	NM_015374.3(SUN2):c.1190+4C>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2795151	NM_015374.3(SUN2):c.1190+15C>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2789927	NM_001130965.3(SUN1):c.1971G>C (p.Val657=)	SUN1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2781144	NM_001130965.3(SUN1):c.402A>T (p.Val134=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2767510	NM_001130965.3(SUN1):c.1251G>A (p.Gln417=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2764583	NM_001130965.3(SUN1):c.1394+20_1394+21del	SUN1	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2762490	NM_015374.3(SUN2):c.778G>A (p.Gly260Ser)	SUN2 (G230S +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2762440	NM_015374.3(SUN2):c.1273C>T (p.Leu425=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2761486	NM_015374.3(SUN2):c.1409G>C (p.Gly470Ala)	GTPBP1, SUN2 (G306A +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2758720	NM_015374.3(SUN2):c.1940C>T (p.Ala647Val)	GTPBP1, SUN2 (A601V +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2755547	NM_001130965.3(SUN1):c.2265C>T (p.Phe755=)	SUN1 (P758S)	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2748429	NM_015374.3(SUN2):c.218C>T (p.Ser73Leu)	SUN2 (S43L +1 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2748288	NM_015374.3(SUN2):c.405C>T (p.Ser135=)	SUN2	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2748268	NM_001130965.3(SUN1):c.1863T>G (p.Gly621=)	SUN1	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2748231	NM_015374.3(SUN2):c.1841G>A (p.Arg614His)	GTPBP1, SUN2 (R481H +9 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2742405	NM_015374.3(SUN2):c.1146+9G>T	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2740589	NM_001130965.3(SUN1):c.1779+8G>A	SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2740039	NM_001130965.3(SUN1):c.1123C>T (p.Gln375Ter)	SUN1 (Q186* +45 more)	Single nucleotide variant (nonsense +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2739812	NM_001130965.3(SUN1):c.1151G>A (p.Arg384Gln)	SUN1 (R146Q +45 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2738373	NM_015374.3(SUN2):c.924G>C (p.Leu308=)	GTPBP1, SUN2	Single nucleotide variant (synonymous variant +1 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2737607	NM_001130965.3(SUN1):c.615C>G (p.Pro205=)	SUN1 (P53R)	Single nucleotide variant (synonymous variant +4 more)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2733620	NM_001130965.3(SUN1):c.149G>A (p.Arg50Gln)	SUN1 (R71Q +2 more)	Single nucleotide variant (missense variant +3 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2732012	NM_001130965.3(SUN1):c.77+18C>T	LOC126859921, SUN1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2731714	NM_015374.3(SUN2):c.1562T>C (p.Ile521Thr)	GTPBP1, SUN2 (I357T +8 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2730768	NM_015374.3(SUN2):c.1779+17C>A	GTPBP1, SUN2	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2729664	NM_015374.3(SUN2):c.920G>A (p.Arg307His)	GTPBP1, SUN2 (R261H +6 more)	Single nucleotide variant (missense variant +1 more)	Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2728930	NM_001130965.3(SUN1):c.261G>A (p.Ala87=)	SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy	GLikely benign

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