23386[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	See cases	GPathogenic
Select item 153559	GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)x1	ACOD1, CLN5 +50 more	Copy number loss	See cases	GPathogenic
Select item 3059370	NM_015057.5(MYCBP2):c.14013G>A (p.Val4671=)	MYCBP2	Single nucleotide variant (synonymous variant)	MYCBP2-related disorder	GBenign
Select item 3154640	NM_015057.5(MYCBP2):c.13907C>G (p.Pro4636Arg)	MYCBP2 (P4636R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 91986	NM_015057.5(MYCBP2):c.13840A>G (p.Thr4614Ala)	MYCBP2 (T4614A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503344	NM_015057.5(MYCBP2):c.13827_13828del (p.Phe4609fs)	MYCBP2 (F4609fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 775345	NM_015057.5(MYCBP2):c.13755G>A (p.Gln4585=)	MYCBP2	Single nucleotide variant (synonymous variant)	MYCBP2-related disorder +1 more	GBenign
Select item 3297263	NM_015057.5(MYCBP2):c.13711A>G (p.Arg4571Gly)	MYCBP2 (R4571G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236545	NM_015057.5(MYCBP2):c.13690C>T (p.Arg4564Trp)	MYCBP2 (R4564W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458804	NM_015057.5(MYCBP2):c.13670G>A (p.Arg4557His)	MYCBP2 (R4557H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718182	NM_015057.5(MYCBP2):c.13647+4T>A	MYCBP2	Single nucleotide variant (intron variant)	MYCBP2-related disorder +1 more	GLikely benign
Select item 2662859	NM_015057.5(MYCBP2):c.13627G>A (p.Val4543Met)	MYCBP2 (V4543M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613835	NM_015057.5(MYCBP2):c.13501G>T (p.Val4501Phe)	MYCBP2 (V4501F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356205	NM_015057.5(MYCBP2):c.13501G>A (p.Val4501Ile)	MYCBP2 (V4501I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1800925	NM_015057.5(MYCBP2):c.13369C>T (p.Arg4457Ter)	MYCBP2 (R4457*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2479257	NM_015057.5(MYCBP2):c.13247G>A (p.Ser4416Asn)	MYCBP2 (S4416N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3297268	NM_015057.5(MYCBP2):c.13234G>A (p.Gly4412Ser)	MYCBP2 (G4412S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643851	NM_015057.5(MYCBP2):c.13206C>T (p.Asn4402=)	MYCBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3297282	NM_015057.5(MYCBP2):c.13175C>A (p.Pro4392His)	MYCBP2 (P4392H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662105	NM_015057.5(MYCBP2):c.13060G>A (p.Glu4354Lys)	MYCBP2 (E4354K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055363	NM_015057.5(MYCBP2):c.13011A>G (p.Ala4337=)	MYCBP2	Single nucleotide variant (synonymous variant)	MYCBP2-related disorder	GLikely benign
Select item 3057728	NM_015057.5(MYCBP2):c.12909C>T (p.Phe4303=)	MYCBP2	Single nucleotide variant (synonymous variant)	MYCBP2-related disorder	GLikely benign
Select item 2406771	NM_015057.5(MYCBP2):c.12883A>G (p.Thr4295Ala)	MYCBP2 (T4295A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030726	NM_015057.5(MYCBP2):c.12877C>T (p.Arg4293Ter)	MYCBP2 (R4293*)	Single nucleotide variant (nonsense)	MYCBP2-related disorder	GUncertain significance
Select item 2503346	NM_015057.5(MYCBP2):c.12875A>G (p.His4292Arg)	MYCBP2 (H4292R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 147734	GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1	EDNRB, EDNRB-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 2480591	NM_015057.5(MYCBP2):c.12778A>G (p.Met4260Val)	MYCBP2 (M4260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506667	NM_015057.5(MYCBP2):c.12776C>G (p.Pro4259Arg)	MYCBP2 (P4259R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643852	NM_015057.5(MYCBP2):c.12596T>A (p.Ile4199Asn)	MYCBP2 (I4199N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3154599	NM_015057.5(MYCBP2):c.12536T>C (p.Ile4179Thr)	MYCBP2 (I4179T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154595	NM_015057.5(MYCBP2):c.12467G>A (p.Arg4156Gln)	MYCBP2 (R4156Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801170	NM_015057.5(MYCBP2):c.12452C>T (p.Ser4151Phe)	MYCBP2 (S4151F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3154588	NM_015057.5(MYCBP2):c.12437C>T (p.Pro4146Leu)	MYCBP2 (P4146L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297278	NM_015057.5(MYCBP2):c.12436C>T (p.Pro4146Ser)	MYCBP2 (P4146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154581	NM_015057.5(MYCBP2):c.12425C>T (p.Thr4142Ile)	MYCBP2 (T4142I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057308	NM_015057.5(MYCBP2):c.12379A>G (p.Thr4127Ala)	MYCBP2 (T4127A)	Single nucleotide variant (missense variant)	MYCBP2-related disorder	GLikely benign
Select item 3154575	NM_015057.5(MYCBP2):c.12361C>G (p.Leu4121Val)	MYCBP2 (L4121V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538255	NM_015057.5(MYCBP2):c.12313A>G (p.Ile4105Val)	MYCBP2 (I4105V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428859	NM_015057.5(MYCBP2):c.12307C>G (p.Leu4103Val)	MYCBP2 (L4103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268340	NM_015057.5(MYCBP2):c.12272T>C (p.Ile4091Thr)	MYCBP2 (I4091T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662609	NM_015057.5(MYCBP2):c.12125A>T (p.Asp4042Val)	MYCBP2 (D4042V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3154548	NM_015057.5(MYCBP2):c.11953C>T (p.Arg3985Cys)	MYCBP2 (R3985C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1294512	NM_015057.5(MYCBP2):c.11824-17del	MYCBP2	Deletion (intron variant)	not provided	GBenign
Select item 3050147	NM_015057.5(MYCBP2):c.11739C>G (p.Leu3913=)	MYCBP2, MYCBP2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	MYCBP2-related disorder	GLikely benign
Select item 781107	NM_015057.5(MYCBP2):c.11718G>A (p.Thr3906=)	MYCBP2, MYCBP2-AS1	Single nucleotide variant (synonymous variant)	MYCBP2-related disorder +1 more	GBenign
Select item 2262142	NM_015057.5(MYCBP2):c.11662G>A (p.Val3888Met)	MYCBP2, MYCBP2-AS1 (V3888M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154538	NM_015057.5(MYCBP2):c.11656G>A (p.Ala3886Thr)	MYCBP2, MYCBP2-AS1 (A3886T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053154	NM_015057.5(MYCBP2):c.11584C>T (p.Leu3862=)	MYCBP2, MYCBP2-AS1	Single nucleotide variant (synonymous variant)	MYCBP2-related disorder	GLikely benign
Select item 3154533	NM_015057.5(MYCBP2):c.11551A>G (p.Ile3851Val)	MYCBP2, MYCBP2-AS1 (I3851V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1712232	NM_015057.5(MYCBP2):c.11540del (p.Asp3847fs)	MYCBP2, MYCBP2-AS1 (D3847fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3154527	NM_015057.5(MYCBP2):c.11507T>C (p.Ile3836Thr)	MYCBP2, MYCBP2-AS1 (I3836T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662211	NM_015057.5(MYCBP2):c.11506A>G (p.Ile3836Val)	MYCBP2, MYCBP2-AS1 (I3836V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297255	NM_015057.5(MYCBP2):c.11503C>T (p.His3835Tyr)	MYCBP2, MYCBP2-AS1 (H3835Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154525	NM_015057.5(MYCBP2):c.11437A>T (p.Thr3813Ser)	MYCBP2, MYCBP2-AS1 (T3813S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300826	NM_015057.5(MYCBP2):c.11381A>G (p.Tyr3794Cys)	MYCBP2, MYCBP2-AS1 (Y3794C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482342	NM_015057.5(MYCBP2):c.11366G>C (p.Gly3789Ala)	MYCBP2, MYCBP2-AS1 (G3789A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297281	NM_015057.5(MYCBP2):c.11233A>G (p.Ile3745Val)	MYCBP2, MYCBP2-AS1 (I3745V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581957	NM_015057.5(MYCBP2):c.11210T>C (p.Met3737Thr)	MYCBP2-AS1, MYCBP2 (M3737T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051181	NM_015057.5(MYCBP2):c.11136C>A (p.Gly3712=)	MYCBP2, MYCBP2-AS1	Single nucleotide variant (synonymous variant)	MYCBP2-related disorder	GLikely benign
Select item 2520802	NM_015057.5(MYCBP2):c.11099A>G (p.His3700Arg)	MYCBP2, MYCBP2-AS1 (H3700R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643853	NM_015057.5(MYCBP2):c.11091C>T (p.Asn3697=)	MYCBP2, MYCBP2-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1803544	NM_015057.5(MYCBP2):c.11042G>A (p.Trp3681Ter)	MYCBP2, MYCBP2-AS1 (W3681*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 781108	NM_015057.5(MYCBP2):c.11037-10G>A	MYCBP2, MYCBP2-AS1	Single nucleotide variant (intron variant)	MYCBP2-related disorder +1 more	GBenign
Select item 2580383	NM_015057.5(MYCBP2):c.11007C>A (p.Ser3669Arg)	MYCBP2, MYCBP2-AS1 (S3669R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3297264	NM_015057.5(MYCBP2):c.10964G>A (p.Arg3655His)	MYCBP2, MYCBP2-AS1 (R3655H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2501823	NM_015057.5(MYCBP2):c.10923T>G (p.Ile3641Met)	MYCBP2, MYCBP2-AS1 (I3641M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2255773	NM_015057.5(MYCBP2):c.10873C>A (p.Gln3625Lys)	MYCBP2, MYCBP2-AS1 (Q3625K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3154513	NM_015057.5(MYCBP2):c.10748A>G (p.Asn3583Ser)	MYCBP2, MYCBP2-AS1 (N3583S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3154504	NM_015057.5(MYCBP2):c.10709G>A (p.Arg3570Gln)	MYCBP2 (R3570Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723323	NM_015057.5(MYCBP2):c.10692A>C (p.Leu3564=)	MYCBP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2387993	NM_015057.5(MYCBP2):c.10662A>C (p.Glu3554Asp)	MYCBP2 (E3554D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514892	NM_015057.5(MYCBP2):c.10592C>G (p.Ser3531Cys)	MYCBP2 (S3531C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055887	NM_015057.5(MYCBP2):c.10554G>A (p.Pro3518=)	MYCBP2	Single nucleotide variant (synonymous variant)	MYCBP2-related disorder	GBenign

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