ClinVar for MedGen (Select 61528) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233275	NM_001100.4(ACTA1):c.763G>C (p.Glu255Gln)	ACTA1 (E255Q)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 3233272	NM_001164508.2(NEB):c.21796_21810del (p.Pro7266_Gln7270del)	NEB, RIF1	Deletion (inframe_deletion)	Nemaline myopathy	GPathogenic
Select item 3233271	NM_001164508.2(NEB):c.22591-3C>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy	GPathogenic
Select item 3233270	NM_001271208.2(NEB):c.22378del	NEB, RIF1	Deletion (splice acceptor variant)	Nemaline myopathy	GPathogenic
Select item 3233269	NM_001164508.2(NEB):c.24268del (p.Arg8090fs)	NEB, RIF1 (R8090fs +1 more)	Deletion (frameshift variant +1 more)	Nemaline myopathy	GPathogenic
Select item 3233268	NM_001164508.2(NEB):c.5039A>G (p.Tyr1680Cys)	NEB (Y1680C)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 3233267	NM_001164508.2(NEB):c.24436_24439dup (p.Thr8147fs)	RIF1, NEB (T6291fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy	GPathogenic
Select item 3233266	NM_001164508.2(NEB):c.302dup (p.Tyr101Ter)	NEB (Y101*)	Duplication (nonsense)	Nemaline myopathy	GPathogenic
Select item 3233265	NM_001164508.2(NEB):c.8160+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy	GPathogenic
Select item 3233264	NM_001164508.2(NEB):c.5783_5784del (p.Tyr1928fs)	NEB (Y1928fs)	Deletion (frameshift variant)	Nemaline myopathy	GPathogenic
Select item 3233263	NM_032578.4(MYPN):c.3158+1G>A	MYPN	Single nucleotide variant (splice donor variant)	Nemaline myopathy	GPathogenic
Select item 3233260	NM_001100.4(ACTA1):c.346G>C (p.Ala116Pro)	ACTA1 (A116P)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 3233257	NM_001458.5(FLNC):c.608G>A (p.Cys203Tyr)	FLNC (C203Y)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 3233255	NM_001100.4(ACTA1):c.203C>A (p.Thr68Asn)	ACTA1 (T68N)	Single nucleotide variant (missense variant)	Nemaline myopathy	GPathogenic
Select item 3233251	NM_001100.4(ACTA1):c.466G>C (p.Asp156His)	ACTA1 (D156H)	Single nucleotide variant (missense variant)	Nemaline myopathy	GPathogenic
Select item 3233245	NM_003289.4(TPM2):c.5A>G (p.Asp2Gly)	TPM2 (D2G)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 3075931	NM_001164508.2(NEB):c.13672G>T (p.Glu4558Ter)	NEB (E4558*)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy	GLikely pathogenic
Select item 3075930	NM_001164508.2(NEB):c.12547G>T (p.Glu4183Ter)	NEB (E4183*)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy	GLikely pathogenic
Select item 3075929	NM_001164508.2(NEB):c.16294C>T (p.Gln5432Ter)	NEB (Q5432*)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy	GLikely pathogenic
Select item 3075928	NM_001164508.2(NEB):c.20049T>A (p.Tyr6683Ter)	NEB (Y4982* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy	GLikely pathogenic
Select item 2691694	NM_001164508.2(NEB):c.23455C>T (p.Gln7819Ter)	NEB, RIF1 (Q6118* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy	GPathogenic
Select item 2682483	NM_001164508.2(NEB):c.11038C>T (p.Gln3680Ter)	NEB (Q3437* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy	GPathogenic
Select item 2635623	NM_001100.4(ACTA1):c.686T>C (p.Met229Thr)	ACTA1 (M229T)	Single nucleotide variant (missense variant)	ACTA1-related disorder +1 more	GPathogenic
Select item 2582826	NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly)	ACTA1 (R258G)	Single nucleotide variant (missense variant)	Congenital myopathy +1 more	GLikely pathogenic
Select item 2582824	NM_001100.4(ACTA1):c.1125A>C (p.Lys375Asn)	ACTA1 (K375N)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely pathogenic
Select item 2582822	NM_001100.4(ACTA1):c.130-5T>A	ACTA1	Single nucleotide variant (intron variant)	Nemaline myopathy	GUncertain significance
Select item 2582809	NM_001100.4(ACTA1):c.443G>T (p.Gly148Val)	ACTA1 (G148V)	Single nucleotide variant (missense variant)	Nemaline myopathy +1 more	GLikely pathogenic
Select item 2582806	NM_001100.4(ACTA1):c.868G>A (p.Asp290Asn)	ACTA1 (D290N)	Single nucleotide variant (missense variant)	Nemaline myopathy	GPathogenic
Select item 2582036	NM_001100.4(ACTA1):c.175G>A (p.Glu59Lys)	ACTA1 (E59K)	Single nucleotide variant (missense variant)	Nemaline myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2581523	NM_001164508.2(NEB):c.14827-2A>C	NEB	Single nucleotide variant (intron variant +1 more)	Nemaline myopathy	GLikely pathogenic
Select item 2581336	NM_001164508.2(NEB):c.2310+5G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy	GLikely pathogenic
Select item 2503969	NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)	LOC126806373, NEB (K4806* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2501116	NM_001164508.2(NEB):c.1035+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy	GLikely pathogenic
Select item 2203158	NM_001164508.2(NEB):c.20928G>T (p.Gly6976=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1878214	NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)	NEB (C693*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +2 more	GConflicting classifications of pathogenicity
Select item 1804724	NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs)	NEB (I3237fs +1 more)	Microsatellite (frameshift variant)	Nemaline myopathy	GLikely pathogenic
Select item 1723442	NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del	NEB	Deletion	Nemaline myopathy	GPathogenic
Select item 1723435	NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del	NEB	Deletion	Nemaline myopathy	GLikely pathogenic
Select item 1723349	NM_001164508.2(NEB):c.7665del (p.Arg2556fs)	NEB (R2556fs)	Deletion (frameshift variant)	Nemaline myopathy	GLikely pathogenic
Select item 1696187	NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs)	NEB, RIF1 (F6449fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy	GLikely pathogenic
Select item 1458230	NM_001164508.2(NEB):c.5343+5G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 1430704	NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)	NEB, RIF1 (H8031fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 1339685	NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs)	NEB, RIF1 (Q6175fs +2 more)	Microsatellite (frameshift variant)	Nemaline myopathy +1 more	GPathogenic/Likely pathogenic
Select item 1339664	NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)	NEB (K5291fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy +1 more	GPathogenic/Likely pathogenic
Select item 1299594	NM_001164508.2(NEB):c.16704+1G>A	NEB	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1073581	NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)	NEB, RIF1 (K8061fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic/Likely pathogenic
Select item 1071068	NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)	NEB (E4685* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 1066715	NM_001164508.2(NEB):c.18472-1G>C	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +2 more	GLikely pathogenic
Select item 974957	NM_001164508.2(NEB):c.1152+1G>T	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy +2 more	GPathogenic
Select item 942659	NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs)	NEB (N1158fs)	Deletion (frameshift variant)	Nemaline myopathy +2 more	GPathogenic
Select item 939766	NM_001164508.2(NEB):c.1006_1018del (p.Asn336fs)	NEB (N336fs)	Deletion (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic
Select item 929152	NM_001164508.2(NEB):c.21141del (p.Ile7047fs)	NEB (I5346fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy	GLikely pathogenic
Select item 928637	NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter)	NEB (W4605* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy	GLikely pathogenic
Select item 918157	NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)	NEB, RIF1 (R5910* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic
Select item 917562	NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)	NEB (V4308fs +1 more)	Deletion (frameshift variant)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 841709	NM_001164508.2(NEB):c.17118+1G>A	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic
Select item 816837	NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)	NEB, RIF1 (R6474* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic
Select item 801764	NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)	NEB, RIF1 (R7714* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 691986	NM_001164508.2(NEB):c.19626+1G>A	LOC126806373, NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GLikely pathogenic
Select item 633334	NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)	NEB, RIF1 (L8414* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy +2 more	GPathogenic
Select item 633333	NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)	NEB, RIF1 (L8102fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy +3 more	GPathogenic/Likely pathogenic
Select item 632924	NM_001164508.2(NEB):c.734del (p.Gly245fs)	NEB (G245fs)	Deletion (frameshift variant)	Nemaline myopathy	GLikely pathogenic
Select item 632922	NM_001164508.2(NEB):c.3252_3255+3del	NEB	Deletion (splice donor variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 632921	NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)	NEB, RIF1 (R7300* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 632920	NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)	NEB (E6852* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 578209	NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	NEB, RIF1 (Y7425* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 575054	NM_001164508.2(NEB):c.1623del (p.Asp542fs)	NEB (D542fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic
Select item 558069	NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs)	NEB, RIF1 (V8126fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy +1 more	GPathogenic
Select item 557888	NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)	NEB (R6887* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 557505	NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)	NEB (Q6226* +1 more)	Single nucleotide variant (nonsense)	Nemaline myopathy +2 more	GPathogenic
Select item 557313	NM_001164508.2(NEB):c.20787+2T>C	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GLikely pathogenic
Select item 557295	NM_001164508.2(NEB):c.19101+5G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy +2 more	GConflicting classifications of pathogenicity
Select item 556650	NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	RIF1, NEB (R7532* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic/Likely pathogenic
Select item 554705	NM_001164508.2(NEB):c.3879+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 554275	NM_001164508.2(NEB):c.20577+2T>C	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GLikely pathogenic
Select item 554273	NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)	NEB, RIF1 (Y8014* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy +1 more	GConflicting classifications of pathogenicity
Select item 552874	NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)	NEB, RIF1 (R6389fs +2 more)	Microsatellite (frameshift variant)	Nemaline myopathy +3 more	GPathogenic/Likely pathogenic
Select item 552340	NM_001164508.2(NEB):c.25297+1G>A	RIF1, NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +2 more	GLikely pathogenic
Select item 552108	NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)	NEB, RIF1 (R6327fs +2 more)	Microsatellite (frameshift variant)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 552042	NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)	NEB (R2313*)	Single nucleotide variant (nonsense)	NEB-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 552035	NM_001164508.2(NEB):c.3255+1G>T	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 552018	NM_001164508.2(NEB):c.78+1G>A	NEB	Single nucleotide variant (splice donor variant)	NEB-related disorder +4 more	GPathogenic
Select item 551899	NM_001164508.2(NEB):c.2943+1G>A	NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +2 more	GPathogenic
Select item 551882	NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)	NEB, RIF1 (M8119fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 551746	NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)	NEB (Y2549*)	Single nucleotide variant (nonsense)	Nemaline myopathy +1 more	GPathogenic/Likely pathogenic
Select item 551527	NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)	NEB (G1446V)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 550775	NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)	NEB, RIF1 (R8094fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550322	NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	NEB (I3156fs)	Deletion (frameshift variant +1 more)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 533994	NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)	NEB, RIF1 (E8100fs +1 more)	Duplication (frameshift variant +1 more)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 533968	NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)	NEB, RIF1 (P8114fs +1 more)	Deletion (intron variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 521691	NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +4 more	GPathogenic/Likely pathogenic
Select item 520693	NM_001164508.2(NEB):c.1849del (p.Asp617fs)	NEB (D617fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 496135	NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	NEB, RIF1 (R8187* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy +3 more	GPathogenic/Likely pathogenic
Select item 496134	NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)	NEB, RIF1 (S8073* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy +3 more	GPathogenic/Likely pathogenic
Select item 496132	NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)	NEB (S6366I +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GPathogenic
Select item 496131	NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)	NEB (R3722* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic/Likely pathogenic
Select item 465618	NM_001164508.2(NEB):c.5722del (p.Ser1908fs)	NEB (S1908fs)	Deletion (frameshift variant)	Nemaline myopathy +2 more	GPathogenic/Likely pathogenic
Select item 465594	NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)	NEB (R974*)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 465589	NM_001164508.2(NEB):c.25214del (p.Gly8405fs)	NEB, RIF1 (G8440fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy +1 more	GConflicting classifications of pathogenicity
Select item 465579	NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)	NEB, RIF1 (L8106fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy +3 more	GPathogenic/Likely pathogenic

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