ClinVar for MedGen (Select 148284) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	GAB3, GDI1 +40 more	Deletion	Adrenoleukodystrophy +6 more	GPathogenic
Select item 3020468	NM_000117.3(EMD):c.187+7G>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3018562	NM_000117.3(EMD):c.82+19G>C	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3018071	NM_000117.3(EMD):c.400-17C>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3015662	NM_000117.3(EMD):c.667G>A (p.Val223Ile)	EMD (V223I)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3013793	NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)	EMD (S58del)	Microsatellite (inframe_deletion)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 3004954	NM_000117.3(EMD):c.187+7G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3004849	NM_000117.3(EMD):c.543T>C (p.Tyr181=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3002639	NM_000117.3(EMD):c.516C>T (p.Ala172=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 3002551	NM_000117.3(EMD):c.188-15C>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2996157	NM_000117.3(EMD):c.307A>G (p.Arg103Gly)	EMD (R103G)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2995089	NM_000117.3(EMD):c.400-15G>C	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2978599	NM_000117.3(EMD):c.438G>A (p.Glu146=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2977710	NM_000117.3(EMD):c.400-11C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2972433	NM_000117.3(EMD):c.266-13C>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2971779	NM_000117.3(EMD):c.70G>C (p.Gly24Arg)	EMD (G24R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2967706	NM_000117.3(EMD):c.265+12G>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2967457	NM_000117.3(EMD):c.400-15G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2966175	NM_000117.3(EMD):c.82+20A>C	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2964243	NM_000117.3(EMD):c.265+11G>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2919746	NM_000117.3(EMD):c.83-13C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2910943	NM_000117.3(EMD):c.669C>T (p.Val223=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2905963	NM_000117.3(EMD):c.400-12T>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2905884	NM_000117.3(EMD):c.237A>C (p.Lys79Asn)	EMD (K79N)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2899430	NM_000117.3(EMD):c.550_552del (p.Thr184del)	EMD (T184del)	Deletion (inframe_deletion)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2896870	NM_000117.3(EMD):c.41C>A (p.Thr14Asn)	EMD (T14N)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2893341	NM_000117.3(EMD):c.449+20A>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2886386	NM_000117.3(EMD):c.152C>G (p.Pro51Arg)	EMD (P51R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2883711	NM_000117.3(EMD):c.187+20G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GBenign
Select item 2872701	NM_000117.3(EMD):c.265+8A>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2871149	NM_000117.3(EMD):c.266-9C>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2867789	NM_000117.3(EMD):c.450-17C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2865194	NM_000117.3(EMD):c.449+17C>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2861188	NM_000117.3(EMD):c.449+18C>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2858775	NM_000117.3(EMD):c.643del (p.Ala215fs)	EMD (A215fs)	Deletion (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2857783	NM_000117.3(EMD):c.188-12C>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2850531	NM_000117.3(EMD):c.266-10_266-9del	EMD	Deletion (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2849680	NM_000117.3(EMD):c.48G>T (p.Leu16=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2845271	NM_000117.3(EMD):c.87A>G (p.Ser29=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2841804	NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)	EMD (Y41D)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2841480	NM_000117.3(EMD):c.188-8C>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2841249	NM_000117.3(EMD):c.236A>G (p.Lys79Arg)	EMD (K79R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2838109	NM_000117.3(EMD):c.187+11C>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2837577	NM_000117.3(EMD):c.83-9T>C	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2837326	NM_000117.3(EMD):c.265+10G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2835429	NM_000117.3(EMD):c.83-6G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2833998	NM_000117.3(EMD):c.399+2T>C	EMD	Single nucleotide variant (splice donor variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2833529	NM_000117.3(EMD):c.561C>T (p.Ser187=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2833091	NM_000117.3(EMD):c.399+16G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2825480	NM_000117.3(EMD):c.762C>G (p.Phe254Leu)	EMD (F254L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2824646	NM_000117.3(EMD):c.391_397dup (p.Gln133fs)	EMD (Q133fs)	Duplication (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2824576	NM_000117.3(EMD):c.450-14C>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2823847	NM_000117.3(EMD):c.187+2T>G	EMD	Single nucleotide variant (splice donor variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2822804	NM_000117.3(EMD):c.188-20del	EMD	Deletion (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2816568	NM_000117.3(EMD):c.599G>T (p.Trp200Leu)	EMD (W200L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2814802	NM_000117.3(EMD):c.83-16C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2812930	NM_000117.3(EMD):c.377A>G (p.Asp126Gly)	EMD (D126G)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2796279	NM_000117.3(EMD):c.249A>G (p.Leu83=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2785756	NM_000117.3(EMD):c.457C>T (p.Pro153Ser)	EMD (P153S)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2785263	NM_000117.3(EMD):c.529C>T (p.Leu177=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2784614	NM_000117.3(EMD):c.187+13C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2781796	NM_000117.3(EMD):c.450-17C>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2764577	NM_000117.3(EMD):c.399+19G>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2764042	NM_000117.3(EMD):c.676_677del (p.Trp226fs)	EMD (W226fs)	Deletion (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2763157	NM_000117.3(EMD):c.683A>G (p.Gln228Arg)	EMD (Q228R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2758177	NM_000117.3(EMD):c.95G>C (p.Arg32Thr)	EMD (R32T)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2758175	NM_000117.3(EMD):c.92G>C (p.Arg31Pro)	EMD (R31P)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2757621	NM_000117.3(EMD):c.327G>A (p.Glu109=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2751362	NM_000117.3(EMD):c.265+7_265+8insTTTACTCTACCAGAGCA	EMD	Insertion (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2751361	NM_000117.3(EMD):c.188-18C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2742642	NM_000117.3(EMD):c.503G>T (p.Arg168Leu)	EMD (R168L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2742631	NM_000117.3(EMD):c.86C>T (p.Ser29Leu)	EMD (S29L)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2742602	NM_000117.3(EMD):c.356A>G (p.Gln119Arg)	EMD (Q119R)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2741528	NM_000117.3(EMD):c.188-14T>C	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2737439	NM_000117.3(EMD):c.256C>T (p.Gln86Ter)	EMD (Q86*)	Single nucleotide variant (nonsense)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2736282	NM_000117.3(EMD):c.102C>T (p.Tyr34=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2733359	NM_000117.3(EMD):c.187+18G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2729787	NM_000117.3(EMD):c.83-12G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2728954	NM_000117.3(EMD):c.162C>T (p.Ser54=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2728716	NM_000117.3(EMD):c.663C>T (p.Arg221=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2722904	NM_000117.3(EMD):c.265+17G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2717353	NM_000117.3(EMD):c.399+19G>A	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2716920	NM_000117.3(EMD):c.143dup (p.Ser49fs)	EMD (S49fs)	Duplication (frameshift variant)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2708670	NM_000117.3(EMD):c.262A>T (p.Lys88Ter)	EMD (K88*)	Single nucleotide variant (nonsense)	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2703567	NM_000117.3(EMD):c.266-19del	EMD	Deletion (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2702055	NM_000117.3(EMD):c.551C>T (p.Thr184Ile)	EMD (T184I)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2701292	NM_000117.3(EMD):c.187+5G>C	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2698677	NM_000117.3(EMD):c.334G>A (p.Gly112Ser)	EMD (G112S)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2697946	NM_000117.3(EMD):c.621G>C (p.Arg207=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2697534	NM_000117.3(EMD):c.490A>G (p.Ile164Val)	EMD (I164V)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2692608	NM_000117.3(EMD):c.66G>A (p.Pro22=)	EMD	Single nucleotide variant (synonymous variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 2584927	NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)	EMD (Y94*)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 1, X-linked +1 more	GPathogenic/Likely pathogenic
Select item 2579212	GRCh38/hg38 Xq28(chrX:154375606-154392000)x0	EMD, LOC107988033 +3 more	Copy number loss	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2441221	NM_000117.3(EMD):c.82+3A>G	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2441220	NM_000117.3(EMD):c.524G>A (p.Ser175Asn)	EMD (S175N)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 2441218	NM_000117.3(EMD):c.553T>C (p.Ser185Pro)	EMD (S185P)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 1, X-linked +1 more	GUncertain significance
Select item 2422372	NC_000023.10:g.(?_153607393)_(153608624_?)del	EMD	Deletion	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 2422371	NC_000023.10:g.(?_153357622)_(153664237_?)dup	OPN1MW, OPN1MW2 +10 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	X-linked Emery-Dreifuss muscular dystrophy +8 more	GPathogenic
Select item 2416705	NM_000117.3(EMD):c.82+4C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance

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