LOC130060040[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 642050	NC_000017.10:g.(?_4802011)_(4850135_?)dup	LOC130060045, LOC130060046 +17 more	Duplication	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 254891	NM_000080.4(CHRNE):c.1220-45C>T	LOC130060040, CHRNE	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4B +4 more	GBenign/Likely benign
Select item 638347	NM_000080.4(CHRNE):c.1219+33G>A	CHRNE, LOC130060040	Single nucleotide variant	not specified	GUncertain significance
Select item 2907255	NM_000080.4(CHRNE):c.1219+23G>A	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 254890	NM_000080.4(CHRNE):c.1219+17_1219+22del	CHRNE, LOC130060040	Microsatellite (intron variant)	not specified +2 more	GBenign
Select item 2803596	NM_000080.4(CHRNE):c.1219+20C>T	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2799593	NM_000080.4(CHRNE):c.1219+19G>T	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1492244	NM_000080.4(CHRNE):c.1216_1219+19del	CHRNE, LOC130060040	Deletion (splice donor variant)	Congenital myasthenic syndrome 4A +1 more	GPathogenic/Likely pathogenic
Select item 2875746	NM_000080.4(CHRNE):c.1219+17T>C	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2807266	NM_000080.4(CHRNE):c.1219+17T>G	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2897925	NM_000080.4(CHRNE):c.1219+16C>T	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2975509	NM_000080.4(CHRNE):c.1219+15C>T	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2917564	NM_000080.4(CHRNE):c.1219+12G>A	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2757023	NM_000080.4(CHRNE):c.1219+8dup	CHRNE, LOC130060040	Duplication (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1596454	NM_000080.4(CHRNE):c.1219+9A>G	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2036120	NM_000080.4(CHRNE):c.1219+8C>T	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1130645	NM_000080.4(CHRNE):c.1219+8C>G	CHRNE, LOC130060040	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2755971	NM_000080.4(CHRNE):c.1219+5_1219+6dup	CHRNE, LOC130060040	Duplication (intron variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1458892	NM_000080.4(CHRNE):c.1219+2T>G	CHRNE, LOC130060040	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 3241171	NM_000080.4(CHRNE):c.1219+1G>A	CHRNE, LOC130060040	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 2102390	NM_000080.4(CHRNE):c.1219+1G>C	CHRNE, LOC130060040	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 861768	NM_000080.4(CHRNE):c.1218G>A (p.Thr406=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3144676	NM_000080.4(CHRNE):c.1217C>T (p.Thr406Met)	CHRNE, LOC130060040 (T406M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1428380	NM_000080.4(CHRNE):c.1217C>A (p.Thr406Lys)	CHRNE, LOC130060040 (T406K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2025324	NM_000080.4(CHRNE):c.1214G>C (p.Trp405Ser)	CHRNE, LOC130060040 (W405S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1074055	NM_000080.4(CHRNE):c.1214G>A (p.Trp405Ter)	CHRNE, LOC130060040 (W405*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2835944	NM_000080.4(CHRNE):c.1212C>A (p.Thr404=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 705744	NM_000080.4(CHRNE):c.1212C>T (p.Thr404=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 585673	NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile)	CHRNE, LOC130060040 (T404I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1149742	NM_000080.4(CHRNE):c.1209G>A (p.Gly403=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1510196	NM_000080.4(CHRNE):c.1208G>A (p.Gly403Glu)	LOC130060040, CHRNE (G403E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 888746	NM_000080.4(CHRNE):c.1205A>G (p.Gln402Arg)	CHRNE, LOC130060040 (Q402R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 2680797	NM_000080.4(CHRNE):c.1204C>T (p.Gln402Ter)	CHRNE, LOC130060040 (Q402*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1973259	NM_000080.4(CHRNE):c.1203G>C (p.Arg401=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1655021	NM_000080.4(CHRNE):c.1203G>A (p.Arg401=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 969335	NM_000080.4(CHRNE):c.1203del (p.Gln402fs)	CHRNE, LOC130060040 (Q402fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 2157596	NM_000080.4(CHRNE):c.1201C>T (p.Arg401Trp)	CHRNE, LOC130060040 (R401W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1639990	NM_000080.4(CHRNE):c.1200C>T (p.His400=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1099355	NM_000080.4(CHRNE):c.1197G>A (p.Arg399=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2170253	NM_000080.4(CHRNE):c.1192C>T (p.Gln398Ter)	CHRNE, LOC130060040 (Q398*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 2135868	NM_000080.4(CHRNE):c.1192C>A (p.Gln398Lys)	CHRNE, LOC130060040 (Q398K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2440048	NM_000080.4(CHRNE):c.1191G>T (p.Gly397=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2838917	NM_000080.4(CHRNE):c.1188G>A (p.Glu396=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 465857	NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer)	CHRNE, LOC130060040	Duplication (nonsense)	not provided +2 more	GPathogenic
Select item 2894251	NM_000080.4(CHRNE):c.1185T>C (p.Phe395=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 287916	NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val)	CHRNE, LOC130060040 (F395V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +3 more	GUncertain significance
Select item 847037	NM_000080.4(CHRNE):c.1180G>T (p.Val394Leu)	LOC130060040, CHRNE (V394L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2993370	NM_000080.4(CHRNE):c.1179C>T (p.Leu393=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2201604	NM_000080.4(CHRNE):c.1179C>A (p.Leu393=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 465856	NM_000080.4(CHRNE):c.1179C>G (p.Leu393=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2070674	NM_000080.4(CHRNE):c.1176G>C (p.Glu392Asp)	CHRNE, LOC130060040 (E392D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1105950	NM_000080.4(CHRNE):c.1176G>A (p.Glu392=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2880111	NM_000080.4(CHRNE):c.1113_1174del (p.Ser373fs)	CHRNE, LOC130060040 +1 more (S373fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1356957	NM_000080.4(CHRNE):c.1173C>T (p.Ser391=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 451910	NM_000080.4(CHRNE):c.1172_1173delinsTT (p.Ser391Ile)	CHRNE, LOC130060040 (S391I)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 449807	NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg)	CHRNE, LOC130060040 (S391R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2716887	NM_000080.4(CHRNE):c.1172G>A (p.Ser391Asn)	CHRNE, LOC130060040 (S391N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2027741	NM_000080.4(CHRNE):c.1170G>A (p.Arg390=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1611584	NM_000080.4(CHRNE):c.1170G>C (p.Arg390=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 645845	NM_000080.4(CHRNE):c.1169G>C (p.Arg390Pro)	CHRNE, LOC130060040 (R390P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1133859	NM_000080.4(CHRNE):c.1168C>A (p.Arg390=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 287912	NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp)	CHRNE, LOC130060040 (R390W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1565023	NM_000080.4(CHRNE):c.1167A>G (p.Pro389=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 3023629	NM_000080.4(CHRNE):c.1164G>A (p.Lys388=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1070299	NM_000080.4(CHRNE):c.1164del (p.Lys388fs)	CHRNE, LOC130060040 (K388fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 2680796	NM_000080.4(CHRNE):c.1162_1163del (p.Lys388fs)	CHRNE, LOC130060040 (K388fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 18355	NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter)	CHRNE, LOC130060040 (K388*)	Insertion (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1155465	NM_000080.4(CHRNE):c.1161A>G (p.Lys387=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1071548	NM_000080.4(CHRNE):c.1158dup (p.Lys387fs)	CHRNE, LOC130060040 (K387fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2887367	NM_000080.4(CHRNE):c.1158G>A (p.Leu386=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1570281	NM_000080.4(CHRNE):c.1156C>T (p.Leu386=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2696926	NM_000080.4(CHRNE):c.1155A>T (p.Ile385=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1992055	NM_000080.4(CHRNE):c.1155A>G (p.Ile385Met)	CHRNE, LOC130060040 (I385M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1635092	NM_000080.4(CHRNE):c.1152G>T (p.Leu384=)	LOC130060040, CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 937803	NM_000080.4(CHRNE):c.1151T>C (p.Leu384Pro)	CHRNE, LOC130060040 (L384P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2781256	NM_000080.4(CHRNE):c.1150C>T (p.Leu384=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1003457	NM_000080.4(CHRNE):c.1144GAG[1] (p.Glu383del)	CHRNE, LOC130060040 (E383del)	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 756220	NM_000080.4(CHRNE):c.1146G>A (p.Glu382=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 2680810	NM_000080.4(CHRNE):c.1144G>T (p.Glu382Ter)	CHRNE, LOC130060040 (E382*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 2757034	NM_000080.4(CHRNE):c.1143G>C (p.Ala381=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1345407	NM_000080.4(CHRNE):c.1143G>A (p.Ala381=)	LOC130060040, CHRNE	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 465855	NM_000080.4(CHRNE):c.1142C>T (p.Ala381Val)	CHRNE, LOC130060040 (A381V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1400118	NM_000080.4(CHRNE):c.1141G>A (p.Ala381Thr)	CHRNE, LOC130060040 (A381T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 1971040	NM_000080.4(CHRNE):c.1140C>T (p.Arg380=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign
Select item 1959872	NM_000080.4(CHRNE):c.1139G>C (p.Arg380Pro)	CHRNE, LOC130060040 (R380P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2049779	NM_000080.4(CHRNE):c.1138C>T (p.Arg380Cys)	CHRNE, LOC130060040 (R380C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1628486	NM_000080.4(CHRNE):c.1137C>T (p.Leu379=)	CHRNE, LOC130060040	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4A	GLikely benign

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