ClinVar for MedGen (Select 342534) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068721	NM_001164508.2(NEB):c.22590+5G>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GUncertain significance
Select item 3068287	NM_001164508.2(NEB):c.11068A>G (p.Met3690Val)	NEB (M3447V +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 3065618	NM_001164508.2(NEB):c.24331dup (p.Thr8111fs)	NEB, RIF1 (T8111fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2	GUncertain significance
Select item 3023608	NM_001164508.2(NEB):c.10509T>C (p.Ser3503=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3023395	NM_001164508.2(NEB):c.18876G>A (p.Gln6292=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3023390	NM_001164508.2(NEB):c.12534+20C>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3023198	NM_001164508.2(NEB):c.13263+14G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3023170	NM_001164508.2(NEB):c.21417+14G>C	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3022934	NM_001164508.2(NEB):c.7645-16_7645-15del	NEB	Microsatellite (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3022893	NM_001164508.2(NEB):c.12426C>G (p.Leu4142=)	NEB	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 2	GLikely benign
Select item 3022585	NM_001164508.2(NEB):c.17535+20T>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3022553	NM_001164508.2(NEB):c.2264C>G (p.Ser755Cys)	NEB (S755C)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3022531	NM_001164508.2(NEB):c.2337T>G (p.Gly779=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3022344	NM_001164508.2(NEB):c.24393+9G>A	RIF1, NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3022269	NM_001164508.2(NEB):c.7668C>T (p.Arg2556=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3022201	NM_001164508.2(NEB):c.2637+20T>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3021672	NM_001164508.2(NEB):c.20802T>C (p.Ile6934=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3021646	NM_001164508.2(NEB):c.24173A>G (p.Gln8058Arg)	NEB, RIF1 (Q8093R +1 more)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2	GLikely benign
Select item 3021642	NM_001164508.2(NEB):c.17536-13T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3021624	NM_001164508.2(NEB):c.5763+19T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3021472	NM_001164508.2(NEB):c.21649T>C (p.Tyr7217His)	NEB, RIF1 (Y7217H +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3021282	NM_001164508.2(NEB):c.13059+12A>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3021189	NM_001164508.2(NEB):c.19732-15del	NEB	Deletion (intron variant)	Nemaline myopathy 2	GBenign
Select item 3021055	NM_001164508.2(NEB):c.24495C>T (p.Tyr8165=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3021008	NM_001164508.2(NEB):c.22591-11A>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3020954	NM_001164508.2(NEB):c.11796A>G (p.Thr3932=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3020952	NM_001164508.2(NEB):c.23452-20T>C	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3020781	NM_001164508.2(NEB):c.23410G>A (p.Glu7804Lys)	NEB, RIF1 (E6103K +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3020757	NM_001164508.2(NEB):c.5239-20A>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3020556	NM_001164508.2(NEB):c.6243C>G (p.Leu2081=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3020525	NM_001164508.2(NEB):c.13476+14C>T	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3020476	NM_001164508.2(NEB):c.13263+20G>T	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3020382	NM_001164508.2(NEB):c.264C>T (p.His88=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3020207	NM_001164508.2(NEB):c.5344-22_5344-20del	NEB	Microsatellite (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3020050	NM_001164508.2(NEB):c.13572G>A (p.Val4524=)	NEB	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 2	GLikely benign
Select item 3020047	NM_001164508.2(NEB):c.8685+19A>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3019957	NM_001164508.2(NEB):c.22249G>C (p.Glu7417Gln)	RIF1, NEB (E5716Q +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3019909	NM_001164508.2(NEB):c.4539G>A (p.Lys1513=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3019907	NM_001164508.2(NEB):c.7920C>G (p.Val2640=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3019752	NM_001164508.2(NEB):c.2682G>A (p.Thr894=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3019685	NM_001164508.2(NEB):c.4566G>T (p.Leu1522Phe)	NEB (L1522F)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3019382	NM_001164508.2(NEB):c.7071C>T (p.Phe2357=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3019111	NM_001164508.2(NEB):c.2252C>T (p.Ala751Val)	NEB (A751V)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3018853	NM_001164508.2(NEB):c.37-19C>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3018807	NM_001164508.2(NEB):c.17038G>A (p.Glu5680Lys)	NEB (E5680K +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 3018804	NM_001164508.2(NEB):c.13264-16T>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3018754	NM_001164508.2(NEB):c.21175C>T (p.Leu7059=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3018612	NM_001164508.2(NEB):c.13060-7C>T	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3018412	NM_001164508.2(NEB):c.1470+17A>T	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3018344	NM_001164508.2(NEB):c.12748-20A>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3018323	NM_001164508.2(NEB):c.17358G>A (p.Leu5786=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3018309	NM_001164508.2(NEB):c.2943+13G>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3018244	NM_001164508.2(NEB):c.13788+11C>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3018189	NM_001164508.2(NEB):c.13477-2A>T	NEB	Single nucleotide variant (intron variant +1 more)	Nemaline myopathy 2	GLikely pathogenic
Select item 3018132	NM_001164508.2(NEB):c.21051T>G (p.Pro7017=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3018055	NM_001164508.2(NEB):c.11806-19A>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3017801	NM_001164508.2(NEB):c.19687C>A (p.Pro6563Thr)	NEB (P4862T +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3017773	NM_001164508.2(NEB):c.17014-11C>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3017546	NM_001164508.2(NEB):c.9102+12A>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3017461	NM_001164508.2(NEB):c.5344-15T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3017432	NM_001164508.2(NEB):c.23060G>A (p.Gly7687Asp)	NEB, RIF1 (G7687D +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3017416	NM_001164508.2(NEB):c.4389A>G (p.Ala1463=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3017372	NM_001164508.2(NEB):c.19142A>G (p.Tyr6381Cys)	NEB (Y4680C +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GLikely benign
Select item 3017361	NM_001164508.2(NEB):c.25057+20G>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3017360	NM_001164508.2(NEB):c.10347+20G>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3017085	NM_001164508.2(NEB):c.13060-18T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3016781	NM_001164508.2(NEB):c.9723+19G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3016747	NM_001164508.2(NEB):c.198G>A (p.Val66=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3016637	NM_001164508.2(NEB):c.22374+17A>C	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3016556	NM_001164508.2(NEB):c.7536+20A>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3016500	NM_001164508.2(NEB):c.9870C>T (p.His3290=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3016456	NM_001164508.2(NEB):c.25298-2A>G	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2	GLikely pathogenic
Select item 3016423	NM_001164508.2(NEB):c.10069C>T (p.Leu3357=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3016279	NM_001164508.2(NEB):c.3256-19C>T	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3016154	NM_001164508.2(NEB):c.24765+15T>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3015781	NM_001164508.2(NEB):c.19491A>T (p.Val6497=)	LOC126806373, NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3015765	NM_001164508.2(NEB):c.2836-13C>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3015727	NM_001164508.2(NEB):c.21208-16G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3015725	NM_001164508.2(NEB):c.8995-18T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3015703	NM_001164508.2(NEB):c.21312+16C>T	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3015657	NM_001164508.2(NEB):c.20263-17T>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3015533	NM_001164508.2(NEB):c.22609C>T (p.Leu7537=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3015522	NM_001164508.2(NEB):c.21417+18del	NEB, RIF1	Deletion (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3015277	NM_001164508.2(NEB):c.1422C>A (p.Thr474=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GBenign
Select item 3015251	NM_001164508.2(NEB):c.13263+19T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3015234	NM_001164508.2(NEB):c.9786C>T (p.Ala3262=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3015130	NM_001164508.2(NEB):c.1570-11C>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3014188	NM_001164508.2(NEB):c.10185C>T (p.Gly3395=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3014063	NM_001164508.2(NEB):c.9832-11del	NEB	Deletion (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3013744	NM_001164508.2(NEB):c.36+19A>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3013414	NM_001164508.2(NEB):c.1153-17T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3013299	NM_001164508.2(NEB):c.4612-17C>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3013274	NM_001164508.2(NEB):c.24766-16G>C	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3013273	NM_001164508.2(NEB):c.21946-14T>C	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3013271	NM_001164508.2(NEB):c.11793G>A (p.Leu3931=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3013057	NM_001164508.2(NEB):c.23715G>A (p.Val7905=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3012993	NM_001164508.2(NEB):c.10599C>T (p.His3533=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3012933	NM_001164508.2(NEB):c.23016+17C>A	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign
Select item 3012927	NM_001164508.2(NEB):c.4680A>G (p.Pro1560=)	NEB	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2	GLikely benign
Select item 3012797	NM_001164508.2(NEB):c.16908+17C>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GLikely benign

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