6616[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 1257513	NM_130811.4(SNAP25):c.-64+25125G>A	SNAP25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 652394	NC_000020.11:g.(?_10253609)_(10673550_?)del	LOC126862973, LOC130065421 +23 more	Deletion	Alagille syndrome due to a JAG1 point mutation	GPathogenic
Select item 542731	NM_130811.4(SNAP25):c.-63-21820G>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GBenign
Select item 1300470	NM_130811.4(SNAP25):c.-63-286C>T	SNAP25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301162	NM_130811.4(SNAP25):c.-34C>A	SNAP25	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 448434	NM_130811.4(SNAP25):c.-9A>G	SNAP25	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 954664	NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr)	SNAP25 (A2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 542730	NM_130811.4(SNAP25):c.6C>T (p.Ala2=)	SNAP25	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1441827	NM_130811.4(SNAP25):c.7G>A (p.Glu3Lys)	SNAP25 (E3K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 1447199	NM_130811.4(SNAP25):c.11A>G (p.Asp4Gly)	SNAP25 (D4G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 1590536	NM_130811.4(SNAP25):c.12C>T (p.Asp4=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 576987	NM_130811.4(SNAP25):c.13G>A (p.Ala5Thr)	SNAP25 (A5T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GBenign
Select item 3380652	NM_130811.4(SNAP25):c.22C>T (p.Arg8Cys)	SNAP25 (R8C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720776	NM_130811.4(SNAP25):c.22C>A (p.Arg8Ser)	SNAP25 (R8S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 1360397	NM_130811.4(SNAP25):c.23G>A (p.Arg8His)	SNAP25 (R8H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1792203	NM_130811.4(SNAP25):c.24C>A (p.Arg8=)	SNAP25	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1469474	NM_130811.4(SNAP25):c.25A>C (p.Asn9His)	SNAP25 (N9H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 665210	NM_130811.4(SNAP25):c.26A>G (p.Asn9Ser)	SNAP25 (N9S)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GBenign
Select item 2795554	NM_130811.4(SNAP25):c.27T>C (p.Asn9=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1965518	NM_130811.4(SNAP25):c.34GAG[1] (p.Glu13del)	SNAP25 (E13del)	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 856211	NM_130811.4(SNAP25):c.47G>A (p.Arg16Gln)	SNAP25 (R16Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2169250	NM_130811.4(SNAP25):c.51G>A (p.Arg17=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1390252	NM_130811.4(SNAP25):c.57_68del (p.Gln20_Asp23del)	SNAP25	Deletion (inframe_deletion)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2012591	NM_130811.4(SNAP25):c.57C>A (p.Asp19Glu)	SNAP25 (D19E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2899509	NM_130811.4(SNAP25):c.60G>A (p.Gln20=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2896599	NM_130811.4(SNAP25):c.61T>C (p.Leu21=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1663765	NM_130811.4(SNAP25):c.69T>C (p.Asp23=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1475550	NM_130811.4(SNAP25):c.69T>G (p.Asp23Glu)	SNAP25 (D23E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 1285527	NM_130811.4(SNAP25):c.72+1G>A	SNAP25	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2765727	NM_130811.4(SNAP25):c.72+7A>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 3351067	NM_130811.4(SNAP25):c.72+10G>A	SNAP25	Single nucleotide variant (intron variant)	SNAP25-related disorder	GLikely benign
Select item 1549045	NM_130811.4(SNAP25):c.72+11GA[3]	SNAP25	Microsatellite (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1658252	NM_130811.4(SNAP25):c.72+13G>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1288608	NM_130811.4(SNAP25):c.72+41G>T	SNAP25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300704	NM_130811.4(SNAP25):c.72+110G>A	SNAP25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300351	NM_130811.4(SNAP25):c.73-61T>C	SNAP25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2144148	NM_130811.4(SNAP25):c.73-16del	SNAP25	Deletion (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2725451	NM_130811.4(SNAP25):c.73-12T>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 775005	NM_130811.4(SNAP25):c.73-9A>G	SNAP25	Single nucleotide variant	Congenital myasthenic syndrome 18	GLikely benign
Select item 1613023	NM_130811.4(SNAP25):c.73-5C>T	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2107892	NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)	SNAP25 (S25L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18 +1 more	GLikely pathogenic
Select item 1419830	NM_130811.4(SNAP25):c.75G>A (p.Ser25=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 707742	NM_130811.4(SNAP25):c.75G>T (p.Ser25=)	SNAP25	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1022090	NM_130811.4(SNAP25):c.84C>T (p.Ser28=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 3004518	NM_130811.4(SNAP25):c.88C>T (p.Arg30Cys)	SNAP25 (R30C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 1025754	NM_130811.4(SNAP25):c.89G>A (p.Arg30His)	SNAP25 (R30H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18 +1 more	GConflicting classifications of pathogenicity
Select item 1285530	NM_130811.4(SNAP25):c.92G>A (p.Arg31His)	SNAP25 (R31H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1654517	NM_130811.4(SNAP25):c.93T>A (p.Arg31=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2186309	NM_130811.4(SNAP25):c.103C>A (p.Leu35Met)	SNAP25 (L35M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2090119	NM_130811.4(SNAP25):c.105G>A (p.Leu35=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 3371015	NM_130811.4(SNAP25):c.114_114+1delinsTT	SNAP25	Indel (splice donor variant)	not provided	GUncertain significance
Select item 571417	NM_130811.4(SNAP25):c.114G>C (p.Glu38Asp)	SNAP25 (E38D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 1285528	NM_130811.4(SNAP25):c.114+2T>G	SNAP25	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 2810347	NM_130811.4(SNAP25):c.114+3A>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 1551242	NM_130811.4(SNAP25):c.114+7A>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1537087	NM_130811.4(SNAP25):c.114+8G>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1533053	NM_130811.4(SNAP25):c.114+13A>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1531649	NM_130811.4(SNAP25):c.114+18T>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1247317	NM_130811.4(SNAP25):c.114+153A>G	SNAP25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294565	NM_130811.4(SNAP25):c.114+280C>A	SNAP25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232016	NM_130811.4(SNAP25):c.114+310A>T	SNAP25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239988	NM_130811.4(SNAP25):c.115-192A>T	SNAP25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1554978	NM_130811.4(SNAP25):c.115-20C>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1613719	NM_130811.4(SNAP25):c.115-15A>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GBenign
Select item 1621251	NM_130811.4(SNAP25):c.115-12A>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1309046	NM_130811.4(SNAP25):c.115-3dup	SNAP25	Duplication (intron variant)	not provided	GUncertain significance
Select item 3369553	NM_130811.4(SNAP25):c.115-1G>C	SNAP25	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1172639	NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu)	SNAP25 (K40E)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GLikely pathogenic
Select item 1285516	NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg)	SNAP25 (G43R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 841868	NM_130811.4(SNAP25):c.136A>C (p.Thr46Pro)	SNAP25 (T46P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 1608717	NM_130811.4(SNAP25):c.141G>A (p.Leu47=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 949561	NM_130811.4(SNAP25):c.144_146dup (p.Val48_Met49insIle)	SNAP25	Duplication (inframe_insertion)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 208672	NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)	SNAP25 (V48F)	Single nucleotide variant (missense variant)	Unilateral Hypotonia +4 more	GLikely pathogenic
Select item 1285517	NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser)	SNAP25 (L50S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 3372110	NM_130811.4(SNAP25):c.163+1G>T	SNAP25	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2194158	NM_130811.4(SNAP25):c.163+12T>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1612158	NM_130811.4(SNAP25):c.163+20G>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1301097	NM_130811.4(SNAP25):c.163+177T>G	SNAP25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238659	NM_130811.4(SNAP25):c.163+282del	SNAP25	Deletion (intron variant)	not provided	GBenign
Select item 1304755	NM_130811.4(SNAP25):c.164-510T>C	SNAP25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1780551	NM_130811.4(SNAP25):c.164-263C>T	SNAP25	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1708244	NM_130811.4(SNAP25):c.164-252del	SNAP25 (M64fs)	Deletion (frameshift variant +1 more)	Presynaptic congenital myasthenic syndrome	GLikely pathogenic
Select item 1706339	NM_130811.4(SNAP25):c.164-235G>C	SNAP25 (D70H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367587	NM_130811.4(SNAP25):c.164-174G>A	SNAP25 (C90Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 586630	NM_130811.4(SNAP25):c.164-154C>A	SNAP25	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1138255	NM_130811.4(SNAP25):c.164-10G>T	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign

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