1140[Gene ID] - 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 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 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 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 144281	GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3	ACADVL, ACAP1 +106 more	Copy number gain	See cases	GUncertain significance
Select item 59582	GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1	ACADVL, ACAP1 +72 more	Copy number loss	See cases	GPathogenic
Select item 658985	NC_000017.10:g.(?_7348427)_(7352127_?)dup	CHRNB1, LOC130060147	Duplication	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 325072	NM_000747.3(CHRNB1):c.-19C>T	CHRNB1	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 4C	GUncertain significance
Select item 325073	NM_000747.3(CHRNB1):c.-13G>C	CHRNB1	Single nucleotide variant (5 prime UTR variant)	Congenital myasthenic syndrome 4C +1 more	GLikely benign
Select item 422524	NM_000747.3(CHRNB1):c.1A>G (p.Met1Val)	CHRNB1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1051589	NM_000747.3(CHRNB1):c.5C>T (p.Thr2Ile)	CHRNB1 (T2I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 1135327	NM_000747.3(CHRNB1):c.6C>T (p.Thr2=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1113308	NM_000747.3(CHRNB1):c.9A>G (p.Pro3=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2038566	NM_000747.3(CHRNB1):c.13G>A (p.Ala5Thr)	CHRNB1, LOC130060147 (A5T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 3004977	NM_000747.3(CHRNB1):c.21G>C (p.Leu7=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2750683	NM_000747.3(CHRNB1):c.23T>G (p.Met8Arg)	CHRNB1, LOC130060147 (M8R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 1417212	NM_000747.3(CHRNB1):c.26T>C (p.Leu9Pro)	CHRNB1, LOC130060147 (L9P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2067535	NM_000747.3(CHRNB1):c.29TGGGGGCGC[1] (p.10LGA[1])	CHRNB1, LOC130060147	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 964055	NM_000747.3(CHRNB1):c.31G>A (p.Gly11Arg)	CHRNB1, LOC130060147 (G11R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 542753	NM_000747.3(CHRNB1):c.36_37delinsAA (p.Leu13Met)	CHRNB1, LOC130060147 (L13M)	Indel (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 1984864	NM_000747.3(CHRNB1):c.38T>C (p.Leu13Pro)	CHRNB1, LOC130060147 (L13P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 1404151	NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del)	CHRNB1, LOC130060147	Deletion (inframe_deletion)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 725792	NM_000747.3(CHRNB1):c.39G>C (p.Leu13=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4C +1 more	GConflicting classifications of pathogenicity
Select item 1321823	NM_000747.3(CHRNB1):c.42_44delinsAA (p.Ala15fs)	CHRNB1, LOC130060147 (A15fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1371696	NM_000747.3(CHRNB1):c.44C>G (p.Ala15Gly)	CHRNB1, LOC130060147 (A15G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 655540	NM_000747.3(CHRNB1):c.44C>T (p.Ala15Val)	CHRNB1, LOC130060147 (A15V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 767608	NM_000747.3(CHRNB1):c.51C>T (p.Leu17=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 569406	NM_000747.3(CHRNB1):c.53C>G (p.Ala18Gly)	CHRNB1, LOC130060147 (A18G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 1506790	NM_000747.3(CHRNB1):c.56C>A (p.Pro19Gln)	CHRNB1 (P19Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2630469	NM_000747.3(CHRNB1):c.58+1G>A	CHRNB1	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 2A +1 more	GConflicting classifications of pathogenicity
Select item 2440029	NM_000747.3(CHRNB1):c.58+1G>C	CHRNB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2168455	NM_000747.3(CHRNB1):c.58+4A>G	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2042130	NM_000747.3(CHRNB1):c.58+12C>A	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 1594923	NM_000747.3(CHRNB1):c.58+20G>A	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 325074	NM_000747.3(CHRNB1):c.59-14C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A +1 more	GConflicting classifications of pathogenicity
Select item 760272	NM_000747.3(CHRNB1):c.59-7C>T	CHRNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105383	NM_000747.3(CHRNB1):c.59-3_60dup	CHRNB1	Duplication (splice acceptor variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 959159	NM_000747.3(CHRNB1):c.59-3C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 954440	NM_000747.3(CHRNB1):c.61G>A (p.Val21Ile)	CHRNB1 (V21I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2231679	NM_000747.3(CHRNB1):c.62T>G (p.Val21Gly)	CHRNB1 (V21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 512743	NM_000747.3(CHRNB1):c.63C>T (p.Val21=)	CHRNB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2239968	NM_000747.3(CHRNB1):c.67G>A (p.Gly23Ser)	CHRNB1 (G23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540952	NM_000747.3(CHRNB1):c.71C>T (p.Ser24Leu)	CHRNB1 (S24L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 794837	NM_000747.3(CHRNB1):c.78G>A (p.Ala26=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 1378632	NM_000747.3(CHRNB1):c.82G>A (p.Gly28Ser)	CHRNB1 (G28S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 256777	NM_000747.3(CHRNB1):c.84T>C (p.Gly28=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A +2 more	GBenign/Likely benign
Select item 1428635	NM_000747.3(CHRNB1):c.86G>C (p.Arg29Pro)	CHRNB1 (R29P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 704110	NM_000747.3(CHRNB1):c.90C>T (p.Leu30=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2194310	NM_000747.3(CHRNB1):c.92G>A (p.Arg31Gln)	CHRNB1 (R31Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 128754	NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly)	CHRNB1 (E32G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C +3 more	GBenign
Select item 3267182	NM_000747.3(CHRNB1):c.107C>G (p.Ser36Cys)	CHRNB1 (S36C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265252	NM_000747.3(CHRNB1):c.113A>T (p.Tyr38Phe)	CHRNB1 (Y38F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 595606	NM_000747.3(CHRNB1):c.115_117del (p.Asp39del)	CHRNB1 (D39del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 3267183	NM_000747.3(CHRNB1):c.127C>G (p.Arg43Gly)	CHRNB1 (R43G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758022	NM_000747.3(CHRNB1):c.129G>A (p.Arg43=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 703968	NM_000747.3(CHRNB1):c.132A>G (p.Pro44=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2440033	NM_000747.3(CHRNB1):c.133G>A (p.Ala45Thr)	CHRNB1 (A45T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 2757083	NM_000747.3(CHRNB1):c.137G>A (p.Arg46Gln)	CHRNB1 (R46Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 1347588	NM_000747.3(CHRNB1):c.145G>A (p.Gly49Arg)	CHRNB1 (G49R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 3144651	NM_000747.3(CHRNB1):c.157A>G (p.Arg53Gly)	CHRNB1 (R53G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2151475	NM_000747.3(CHRNB1):c.165C>G (p.Ser55Arg)	CHRNB1 (S55R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 252497	NM_000747.3(CHRNB1):c.166G>A (p.Val56Ile)	CHRNB1 (V56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523042	NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala)	CHRNB1 (V56A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2866410	NM_000747.3(CHRNB1):c.172C>T (p.Leu58Phe)	CHRNB1 (L58F)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 1630681	NM_000747.3(CHRNB1):c.183G>T (p.Ala61=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 1045635	NM_000747.3(CHRNB1):c.185A>C (p.Gln62Pro)	CHRNB1 (Q62P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 643000	NM_000747.3(CHRNB1):c.187C>G (p.Leu63Val)	CHRNB1 (L63V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 2742174	NM_000747.3(CHRNB1):c.189C>T (p.Leu63=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 1580155	NM_000747.3(CHRNB1):c.192C>T (p.Ile64=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2552792	NM_000747.3(CHRNB1):c.197T>G (p.Leu66Arg)	CHRNB1 (L66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 476150	NM_000747.3(CHRNB1):c.198+3G>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 3002403	NM_000747.3(CHRNB1):c.198+7G>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 1400627	NM_000747.3(CHRNB1):c.198+8C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 1668191	NM_000747.3(CHRNB1):c.198+10C>G	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2957000	NM_000747.3(CHRNB1):c.198+14G>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 1977316	NM_000747.3(CHRNB1):c.198+14G>C	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2044438	NM_000747.3(CHRNB1):c.198+15G>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 889528	NM_000747.3(CHRNB1):c.198+15G>A	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 4C +1 more	GConflicting classifications of pathogenicity
Select item 2050672	NM_000747.3(CHRNB1):c.198+17G>C	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 256774	NM_000747.3(CHRNB1):c.198+36G>T	CHRNB1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1536219	NM_000747.3(CHRNB1):c.199-13T>G	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 749167	NM_000747.3(CHRNB1):c.199-9C>T	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2892873	NM_000747.3(CHRNB1):c.199-8C>G	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2085396	NM_000747.3(CHRNB1):c.199-2A>C	CHRNB1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3345569	NM_000747.3(CHRNB1):c.201_214delinsAAATCTTC (p.Asn67_Glu72delinsLysAsnLeuGln)	CHRNB1	Indel (inframe_indel)	CHRNB1-related disorder	GUncertain significance
Select item 1007600	NM_000747.3(CHRNB1):c.214G>A (p.Glu72Lys)	CHRNB1 (E72K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2787030	NM_000747.3(CHRNB1):c.216G>C (p.Glu72Asp)	CHRNB1 (E72D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 1700888	NM_000747.3(CHRNB1):c.221G>T (p.Ser74Ile)	CHRNB1 (S74I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 291072	NM_000747.3(CHRNB1):c.229G>A (p.Val77Met)	CHRNB1 (V77M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 284303	NM_000747.3(CHRNB1):c.229G>T (p.Val77Leu)	CHRNB1 (V77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145513	NM_000747.3(CHRNB1):c.233A>G (p.Tyr78Cys)	CHRNB1 (Y78C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 890187	NM_000747.3(CHRNB1):c.236T>C (p.Leu79Ser)	CHRNB1 (L79S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 4C +1 more	GUncertain significance
Select item 642218	NM_000747.3(CHRNB1):c.240C>G (p.Asp80Glu)	CHRNB1 (D80E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 2724949	NM_000747.3(CHRNB1):c.241C>G (p.Leu81Val)	CHRNB1 (L81V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 890188	NM_000747.3(CHRNB1):c.243+14A>G	CHRNB1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 2A +1 more	GBenign/Likely benign
Select item 1517854	NM_000747.3(CHRNB1):c.243+19del	CHRNB1	Deletion (intron variant)	Congenital myasthenic syndrome 2A	GBenign

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