ClinVar for MedGen (Select 381298) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245115	NC_000009.11:g.(?_36245958)_(36249414_?)del	GNE	Deletion	GNE myopathy +1 more	GPathogenic
Select item 3241713	NM_005476.7(GNE):c.2056C>T (p.Gln686Ter)	GNE (Q576* +5 more)	Single nucleotide variant (nonsense)	GNE myopathy	GLikely pathogenic
Select item 3241712	NM_005476.7(GNE):c.571_572del (p.Ala192fs)	GNE (A133fs +2 more)	Microsatellite (frameshift variant)	GNE myopathy	GLikely pathogenic
Select item 3241711	NM_005476.7(GNE):c.2112_2117delinsAAATCCAGCTG (p.Ala705fs)	GNE (A595fs +5 more)	Indel (frameshift variant)	GNE myopathy	GLikely pathogenic
Select item 3241709	NM_005476.7(GNE):c.1888G>A (p.Ala630Thr)	GNE (A520T +5 more)	Single nucleotide variant (missense variant)	GNE myopathy	GPathogenic
Select item 3241708	NM_005476.7(GNE):c.2130_2133del (p.Ser711fs)	GNE (S601fs +5 more)	Deletion (frameshift variant)	GNE myopathy	GLikely pathogenic
Select item 3241706	NM_005476.7(GNE):c.496C>T (p.Gln166Ter)	GNE (Q107* +2 more)	Single nucleotide variant (nonsense)	GNE myopathy	GLikely pathogenic
Select item 3235048	NM_005476.7(GNE):c.1768T>A (p.Tyr590Asn)	GNE (Y480N +5 more)	Single nucleotide variant (missense variant)	GNE myopathy	GUncertain significance
Select item 3065925	NM_005476.7(GNE):c.503T>C (p.Leu168Pro)	GNE (L109P +2 more)	Single nucleotide variant (missense variant)	GNE myopathy	GLikely pathogenic
Select item 2954497	NM_005476.7(GNE):c.1934-11T>C	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2954041	NM_005476.7(GNE):c.2055G>A (p.Gln685=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2953451	NM_005476.7(GNE):c.63T>C (p.Asp21=)	GNE	Single nucleotide variant (synonymous variant +1 more)	GNE myopathy +1 more	GLikely benign
Select item 2953228	NM_005476.7(GNE):c.165-5T>C	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2953181	NM_005476.7(GNE):c.213G>A (p.Arg71=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2952697	NM_005476.7(GNE):c.1684T>G (p.Phe562Val)	GNE (F488V +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2952579	NM_005476.7(GNE):c.597C>T (p.Ser199=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2952479	NM_005476.7(GNE):c.2129C>T (p.Ala710Val)	GNE (A659V +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2951930	NM_005476.7(GNE):c.1078A>T (p.Ile360Leu)	GNE (I309L +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2951688	NM_001128227.3(GNE):c.51+2T>A	GNE	Single nucleotide variant (splice donor variant)	Sialuria +1 more	GLikely pathogenic
Select item 2951583	NM_005476.7(GNE):c.770-20G>A	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2951557	NM_005476.7(GNE):c.1185T>A (p.Asn395Lys)	GNE (N344K +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2951506	NM_005476.7(GNE):c.1965C>T (p.Asn655=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2951384	NM_005476.7(GNE):c.1933+1G>C	GNE	Single nucleotide variant (splice donor variant)	GNE myopathy +1 more	GPathogenic
Select item 2951336	NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)	GNE (Q244* +4 more)	Single nucleotide variant (nonsense)	GNE myopathy +1 more	GPathogenic
Select item 2950937	NM_005476.7(GNE):c.1282-7C>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2949744	NM_005476.7(GNE):c.982+13G>C	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2949450	NM_005476.7(GNE):c.1933+19G>A	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2949217	NM_005476.7(GNE):c.1146A>G (p.Pro382=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2949012	NM_005476.7(GNE):c.1817-12C>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2948725	NM_005476.7(GNE):c.1362G>C (p.Val454=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2948588	NM_005476.7(GNE):c.642C>T (p.Tyr214=)	GNE	Single nucleotide variant (synonymous variant +1 more)	GNE myopathy +1 more	GLikely benign
Select item 2948388	NM_005476.7(GNE):c.1816+9C>A	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2948273	NM_005476.7(GNE):c.1569G>C (p.Leu523=)	GNE	Single nucleotide variant (synonymous variant +1 more)	GNE myopathy +1 more	GLikely benign
Select item 2948005	NM_005476.7(GNE):c.1985C>T (p.Pro662Leu)	GNE (P588L +5 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2947937	NM_005476.7(GNE):c.1767A>T (p.Ala589=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2947928	NM_005476.7(GNE):c.1476C>T (p.Ile492=)	GNE	Single nucleotide variant (synonymous variant +1 more)	GNE myopathy +1 more	GLikely benign
Select item 2946919	NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)	GNE (Y601* +5 more)	Single nucleotide variant (nonsense)	Sialuria +1 more	GPathogenic
Select item 2946778	NM_005476.7(GNE):c.1933+12G>A	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2946691	NM_005476.7(GNE):c.884G>C (p.Gly295Ala)	GNE (G236A +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2946677	NM_001128227.3(GNE):c.32C>T (p.Ser11Leu)	GNE (S11L)	Single nucleotide variant (missense variant +1 more)	Sialuria +1 more	GUncertain significance
Select item 2946634	NM_001128227.3(GNE):c.52G>A (p.Glu18Lys)	GNE (E18K)	Single nucleotide variant (missense variant +2 more)	Sialuria +1 more	GUncertain significance
Select item 2946391	NM_005476.7(GNE):c.830G>A (p.Arg277His)	GNE (R308H +4 more)	Single nucleotide variant (missense variant)	Sialuria +1 more	GUncertain significance
Select item 2946232	NM_005476.7(GNE):c.1155G>A (p.Lys385=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2945682	NM_005476.7(GNE):c.869T>A (p.Leu290Ter)	GNE (L239* +4 more)	Single nucleotide variant (nonsense)	Sialuria +1 more	GPathogenic
Select item 2945518	NM_005476.7(GNE):c.1282-9C>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2945505	NM_005476.7(GNE):c.1220T>C (p.Leu407Pro)	GNE (L297P +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2945500	NM_005476.7(GNE):c.588C>T (p.Asp196=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2945219	NM_005476.7(GNE):c.1956G>T (p.Gly652=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2945109	NM_005476.7(GNE):c.540_553del (p.Leu180fs)	GNE (L211fs +2 more)	Deletion (frameshift variant)	GNE myopathy +1 more	GPathogenic
Select item 2944916	NM_005476.7(GNE):c.1461T>C (p.His487=)	GNE	Single nucleotide variant (synonymous variant +1 more)	GNE myopathy +1 more	GLikely benign
Select item 2944880	NM_005476.7(GNE):c.1281+11del	GNE	Deletion (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2944829	NM_005476.7(GNE):c.1281+18C>A	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2944468	NM_005476.7(GNE):c.983-7T>C	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2944462	NM_005476.7(GNE):c.1071-11del	GNE	Deletion (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2944320	NM_005476.7(GNE):c.1264G>C (p.Ala422Pro)	GNE (A312P +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2944045	NM_005476.7(GNE):c.1032G>A (p.Leu344=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2943754	NM_005476.7(GNE):c.1934-6C>T	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2943685	NM_005476.7(GNE):c.2142G>A (p.Leu714=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2943406	NM_005476.7(GNE):c.1411+1G>C	GNE	Single nucleotide variant (splice donor variant)	Sialuria +1 more	GLikely pathogenic
Select item 2942812	NM_005476.7(GNE):c.1816+15C>G	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2942733	NM_005476.7(GNE):c.303C>G (p.Arg101=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2942542	NM_005476.7(GNE):c.489T>C (p.Ser163=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2942430	NM_005476.7(GNE):c.770-8_770-3del	GNE	Microsatellite (intron variant)	Sialuria +1 more	GLikely benign
Select item 2942121	NM_005476.7(GNE):c.1634-4G>C	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2942038	NM_005476.7(GNE):c.1282-14G>A	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2941761	NM_005476.7(GNE):c.1466C>T (p.Thr489Ile)	GNE (T379I +4 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +1 more	GUncertain significance
Select item 2941698	NM_005476.7(GNE):c.1460A>G (p.His487Arg)	GNE (H436R +4 more)	Single nucleotide variant (missense variant +1 more)	Sialuria +1 more	GUncertain significance
Select item 2941583	NM_005476.7(GNE):c.1075A>C (p.Lys359Gln)	GNE (K249Q +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2941255	NM_005476.7(GNE):c.1817-2A>G	GNE	Single nucleotide variant (splice acceptor variant)	GNE myopathy +1 more	GLikely pathogenic
Select item 2940919	NM_005476.7(GNE):c.1633+12del	GNE	Deletion (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2940895	NM_005476.7(GNE):c.1082A>T (p.Tyr361Phe)	GNE (Y302F +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2940709	NM_005476.7(GNE):c.1794G>A (p.Arg598=)	GNE	Single nucleotide variant (synonymous variant)	GNE myopathy +1 more	GLikely benign
Select item 2940657	NM_005476.7(GNE):c.1231G>C (p.Ala411Pro)	GNE (A352P +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2940482	NM_005476.7(GNE):c.111G>A (p.Glu37=)	GNE	Single nucleotide variant (synonymous variant +1 more)	GNE myopathy +1 more	GLikely benign
Select item 2940271	NM_005476.7(GNE):c.1817-14C>T	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2940117	NM_005476.7(GNE):c.723C>T (p.Ile241=)	GNE	Single nucleotide variant (synonymous variant +1 more)	GNE myopathy +1 more	GLikely benign
Select item 2940115	NM_005476.7(GNE):c.982+17A>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2940109	NM_005476.7(GNE):c.1973del (p.His658fs)	GNE (H689fs +5 more)	Deletion (frameshift variant)	GNE myopathy +1 more	GPathogenic
Select item 2939337	NM_005476.7(GNE):c.2118G>T (p.Leu706=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2939009	NM_005476.7(GNE):c.171A>G (p.Thr57=)	GNE	Single nucleotide variant (synonymous variant +1 more)	Sialuria +1 more	GLikely benign
Select item 2938258	NM_005476.7(GNE):c.1179G>A (p.Lys393=)	GNE	Single nucleotide variant (synonymous variant)	Sialuria +1 more	GLikely benign
Select item 2938214	NM_005476.7(GNE):c.1587C>T (p.Gly529=)	GNE	Single nucleotide variant (synonymous variant +1 more)	Sialuria +1 more	GLikely benign
Select item 2937703	NM_005476.7(GNE):c.164+19C>T	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2937483	NM_001128227.3(GNE):c.51+12G>C	GNE	Single nucleotide variant (intron variant)	Sialuria +1 more	GLikely benign
Select item 2937318	NM_001128227.3(GNE):c.91A>G (p.Ile31Val)	GNE (I31V)	Single nucleotide variant (missense variant +2 more)	GNE myopathy +1 more	GUncertain significance
Select item 2937080	NM_005476.7(GNE):c.1934-11T>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2936917	NM_005476.7(GNE):c.1282-18_1282-17insATGATCCACCCGCCTCGG	GNE	Insertion (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2936859	NM_005476.7(GNE):c.1509C>A (p.Pro503=)	GNE	Single nucleotide variant (synonymous variant +1 more)	GNE myopathy +1 more	GLikely benign
Select item 2936800	NM_005476.7(GNE):c.1281+15A>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2935819	NM_005476.7(GNE):c.1594A>G (p.Lys532Glu)	GNE (K422E +4 more)	Single nucleotide variant (missense variant +1 more)	GNE myopathy +1 more	GUncertain significance
Select item 2935416	NM_005476.7(GNE):c.1165T>C (p.Phe389Leu)	GNE (F338L +4 more)	Single nucleotide variant (missense variant)	GNE myopathy +1 more	GUncertain significance
Select item 2935325	NM_005476.7(GNE):c.769+19G>A	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2935262	NM_005476.7(GNE):c.1934-17T>C	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2934697	NM_005476.7(GNE):c.1600C>T (p.Leu534=)	GNE	Single nucleotide variant (synonymous variant +1 more)	GNE myopathy +1 more	GLikely benign
Select item 2934615	NM_005476.7(GNE):c.1071-6T>C	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2934605	NM_005476.7(GNE):c.1071-2A>C	GNE	Single nucleotide variant (splice acceptor variant)	GNE myopathy +1 more	GLikely pathogenic
Select item 2934399	NM_005476.7(GNE):c.182_185del (p.Ile61fs)	GNE (I2fs +2 more)	Deletion (frameshift variant +1 more)	GNE myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2933980	NM_005476.7(GNE):c.1411+7T>G	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2933739	NM_005476.7(GNE):c.1817-12C>T	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign
Select item 2933561	NM_005476.7(GNE):c.1634-20A>T	GNE	Single nucleotide variant (intron variant)	GNE myopathy +1 more	GLikely benign

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