ClinVar for Gene (Select 6616) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235704	NM_130811.4(SNAP25):c.550_552del (p.Lys184del)	SNAP25 (K184del)	Deletion (inframe_deletion)	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 3062413	GRCh37/hg19 20p12.2(chr20:9596286-10678665)x1	ANKEF1, JAG1 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062400	GRCh37/hg19 20p12.3-12.2(chr20:7856703-11991178)x1	ANKEF1, BTBD3 +10 more	Copy number loss	not specified	GPathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SEC23B, SEL1L2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	CDS2, CPXM1 +114 more	Copy number gain	not provided	GPathogenic
Select item 3023619	NM_130811.4(SNAP25):c.408-11T>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
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 2980001	NM_130811.4(SNAP25):c.371G>A (p.Arg124Gln)	SNAP25 (R124Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2920439	NM_130811.4(SNAP25):c.403C>T (p.Arg135Cys)	SNAP25 (R135C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2913816	NM_130811.4(SNAP25):c.345C>T (p.Ser115=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2911459	NM_130811.4(SNAP25):c.219A>G (p.Glu73=)	SNAP25	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2905457	NM_130811.4(SNAP25):c.408-9G>T	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
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 2882141	NM_130811.4(SNAP25):c.282-20T>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2869071	NM_130811.4(SNAP25):c.176G>A (p.Arg59His)	SNAP25 (R59H)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2834612	NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)	SNAP25	Duplication (inframe_insertion)	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 2831808	NM_130811.4(SNAP25):c.614G>A (p.Ser205Asn)	SNAP25 (S205N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2829951	NM_130811.4(SNAP25):c.511A>G (p.Ile171Val)	SNAP25 (I171V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2816040	NM_130811.4(SNAP25):c.491C>A (p.Ala164Asp)	SNAP25 (A164D)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2814496	NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)	SNAP25 (I181N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	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 2795554	NM_130811.4(SNAP25):c.27T>C (p.Asn9=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2793854	NM_130811.4(SNAP25):c.592C>T (p.Arg198Cys)	SNAP25 (R198C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2791736	NM_130811.4(SNAP25):c.493C>T (p.Leu165=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
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 2764265	NM_130811.4(SNAP25):c.333A>G (p.Gly111=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2758772	NM_130811.4(SNAP25):c.528C>T (p.Arg176=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2754201	NM_130811.4(SNAP25):c.488T>G (p.Met163Arg)	SNAP25 (M163R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2742265	NM_130811.4(SNAP25):c.437T>A (p.Met146Lys)	SNAP25 (M146K)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2734799	NM_130811.4(SNAP25):c.568A>G (p.Thr190Ala)	SNAP25 (T190A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
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 2718510	NM_130811.4(SNAP25):c.282-11C>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2710891	NM_130811.4(SNAP25):c.405C>T (p.Arg135=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2699278	NM_130811.4(SNAP25):c.469A>G (p.Ile157Val)	SNAP25 (I157V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2672876	NM_130811.4(SNAP25):c.601A>G (p.Lys201Glu)	SNAP25 (K201E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2200955	NM_130811.4(SNAP25):c.281+13T>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2199440	NM_130811.4(SNAP25):c.292A>G (p.Ser98Gly)	SNAP25 (S98G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GBenign
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 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 2169250	NM_130811.4(SNAP25):c.51G>A (p.Arg17=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2147433	NM_130811.4(SNAP25):c.281+18G>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2144148	NM_130811.4(SNAP25):c.73-16del	SNAP25	Deletion (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 2091302	NM_130811.4(SNAP25):c.408-18T>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
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 2086567	NM_130811.4(SNAP25):c.408-8G>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2077314	NM_130811.4(SNAP25):c.363G>A (p.Val121=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 2030510	NM_130811.4(SNAP25):c.281+17T>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2021986	NM_130811.4(SNAP25):c.553-12C>T	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2015306	NM_130811.4(SNAP25):c.282-15C>G	SNAP25	Single nucleotide variant (intron variant)	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 2011964	NM_130811.4(SNAP25):c.164-8T>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 2006757	NM_130811.4(SNAP25):c.408-19C>T	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1979672	NM_130811.4(SNAP25):c.331G>A (p.Gly111Arg)	SNAP25 (G111R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1971886	NM_130811.4(SNAP25):c.552+12G>T	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1968481	NM_130811.4(SNAP25):c.393C>A (p.Gly131=)	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 1952367	NM_130811.4(SNAP25):c.516T>C (p.Asp172=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1947572	NM_130811.4(SNAP25):c.566A>C (p.Lys189Thr)	SNAP25 (K189T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GUncertain significance
Select item 1947004	NM_130811.4(SNAP25):c.472G>A (p.Gly158Arg)	SNAP25 (G158R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1946992	NM_130811.4(SNAP25):c.427G>C (p.Glu143Gln)	SNAP25 (E143Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1934766	NM_130811.4(SNAP25):c.408-14T>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
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 1780551	NM_130811.4(SNAP25):c.164-263C>T	SNAP25	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
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 1712269	NM_130811.4(SNAP25):c.529C>T (p.Gln177Ter)	SNAP25 (Q177*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 18	GPathogenic
Select item 1711537	NM_130811.4(SNAP25):c.589C>G (p.Gln197Glu)	SNAP25 (Q197E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1707536	NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)	SNAP25 (A199E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
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 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1685449	NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro)	SNAP25 (L57P)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 18	GLikely pathogenic
Select item 1683899	NM_130811.4(SNAP25):c.526C>T (p.Arg176Cys)	SNAP25 (R176C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1658252	NM_130811.4(SNAP25):c.72+13G>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
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 1632232	NM_130811.4(SNAP25):c.424C>T (p.Arg142Ter)	SNAP25 (R142*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1630448	NM_130811.4(SNAP25):c.407+5_407+19dup	SNAP25	Duplication (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1630218	NM_130811.4(SNAP25):c.189G>A (p.Gly63=)	SNAP25	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1630217	NM_130811.4(SNAP25):c.186A>G (p.Glu62=)	SNAP25	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1630216	NM_130811.4(SNAP25):c.183G>A (p.Glu61=)	SNAP25	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1623203	NM_130811.4(SNAP25):c.553-13C>T	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
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 1618863	NM_130811.4(SNAP25):c.407+11T>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1614968	NM_130811.4(SNAP25):c.378G>A (p.Gln126=)	SNAP25	Single nucleotide variant (synonymous 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 1613023	NM_130811.4(SNAP25):c.73-5C>T	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 1608717	NM_130811.4(SNAP25):c.141G>A (p.Leu47=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1601209	NM_130811.4(SNAP25):c.281+16C>T	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GBenign
Select item 1598277	NM_130811.4(SNAP25):c.164-4T>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1593013	NM_130811.4(SNAP25):c.282-17C>T	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
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 1582264	NM_130811.4(SNAP25):c.407+18T>C	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1572576	NM_130811.4(SNAP25):c.180T>C (p.Ile60=)	SNAP25	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1569004	NM_130811.4(SNAP25):c.393C>G (p.Gly131=)	SNAP25	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1558152	NM_130811.4(SNAP25):c.407+12G>A	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign
Select item 1554978	NM_130811.4(SNAP25):c.115-20C>G	SNAP25	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 18	GLikely benign

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