20295[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 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 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 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 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
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 150046	GRCh38/hg38 13q22.3-31.3(chr13:78304802-91283940)x1	LINC00331, LINC00333 +87 more	Copy number loss	See cases	GPathogenic
Select item 57644	GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1	DCT, GPC5 +121 more	Copy number loss	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 148197	GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1	GPC5, GPC5-AS1 +52 more	Copy number loss	See cases	GLikely pathogenic
Select item 153699	GRCh38/hg38 13q31.1-31.3(chr13:84052824-91838339)x3	GPC5, LINC00333 +47 more	Copy number gain	See cases	GUncertain significance
Select item 150390	GRCh38/hg38 13q31.1-31.3(chr13:85096618-89805641)x3	LINC00351, LINC00353 +23 more	Copy number gain	See cases	GUncertain significance
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 545161	NC_000013.11:g.(?_87545067)_(87934031_?)del	LINC00397, LOC126861813 +3 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 152359	GRCh38/hg38 13q31.2(chr13:87623231-88334330)x3	LINC00373, LINC00397 +3 more	Copy number gain	See cases	GLikely benign
Select item 2252189	NM_001384609.1(SLITRK5):c.19C>T (p.Pro7Ser)	SLITRK5 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320558	NM_001384609.1(SLITRK5):c.86C>T (p.Ala29Val)	SLITRK5 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600102	NM_001384609.1(SLITRK5):c.122T>C (p.Ile41Thr)	SLITRK5 (I41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527191	NM_001384609.1(SLITRK5):c.126T>G (p.Asp42Glu)	SLITRK5 (D42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996626	NM_001384609.1(SLITRK5):c.175G>T (p.Gly59Cys)	SLITRK5 (G59C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 2462779	NM_001384609.1(SLITRK5):c.191G>C (p.Ser64Thr)	SLITRK5 (S64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320552	NM_001384609.1(SLITRK5):c.247A>G (p.Ile83Val)	SLITRK5 (I83V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166113	NM_001384609.1(SLITRK5):c.296A>G (p.Asn99Ser)	SLITRK5 (N99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040238	NM_001384609.1(SLITRK5):c.354G>T (p.Gln118His)	SLITRK5 (Q118H)	Single nucleotide variant (missense variant)	SLITRK5-related disorder	GLikely benign
Select item 3166114	NM_001384609.1(SLITRK5):c.441T>G (p.Asp147Glu)	SLITRK5 (D147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245518	NM_001384609.1(SLITRK5):c.443C>A (p.Thr148Asn)	SLITRK5 (T148N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320554	NM_001384609.1(SLITRK5):c.475C>G (p.Gln159Glu)	SLITRK5 (Q159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166115	NM_001384609.1(SLITRK5):c.497G>A (p.Ser166Asn)	SLITRK5 (S166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166116	NM_001384609.1(SLITRK5):c.508C>T (p.Pro170Ser)	SLITRK5 (P170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249094	NM_001384609.1(SLITRK5):c.568T>C (p.Ser190Pro)	SLITRK5 (S190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166117	NM_001384609.1(SLITRK5):c.623G>A (p.Arg208Gln)	SLITRK5 (R208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297723	NM_001384609.1(SLITRK5):c.652G>A (p.Val218Met)	SLITRK5 (V218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492768	NM_001384609.1(SLITRK5):c.805C>G (p.Arg269Gly)	SLITRK5 (R269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643874	NM_001384609.1(SLITRK5):c.823T>C (p.Leu275=)	SLITRK5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338250	NM_001384609.1(SLITRK5):c.828C>A (p.Asp276Glu)	SLITRK5 (D276E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360273	NM_001384609.1(SLITRK5):c.856A>G (p.Arg286Gly)	SLITRK5 (R286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166119	NM_001384609.1(SLITRK5):c.971A>T (p.Tyr324Phe)	SLITRK5 (Y324F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996627	NM_001384609.1(SLITRK5):c.976C>T (p.Pro326Ser)	SLITRK5 (P326S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 3344442	NM_001384609.1(SLITRK5):c.994A>T (p.Lys332Ter)	SLITRK5 (K332*)	Single nucleotide variant (nonsense)	SLITRK5-related disorder	GUncertain significance
Select item 2262310	NM_001384609.1(SLITRK5):c.1130C>T (p.Ala377Val)	SLITRK5 (A377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320550	NM_001384609.1(SLITRK5):c.1187G>A (p.Arg396Gln)	SLITRK5 (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294533	NM_001384609.1(SLITRK5):c.1195G>C (p.Glu399Gln)	SLITRK5 (E399Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166094	NM_001384609.1(SLITRK5):c.1214A>G (p.Gln405Arg)	SLITRK5 (Q405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719751	NM_001384609.1(SLITRK5):c.1299G>C (p.Thr433=)	SLITRK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3058635	NM_001384609.1(SLITRK5):c.1317C>T (p.His439=)	SLITRK5	Single nucleotide variant (synonymous variant)	SLITRK5-related disorder	GLikely benign
Select item 3166095	NM_001384609.1(SLITRK5):c.1340T>A (p.Met447Lys)	SLITRK5 (M447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330604	NM_001384609.1(SLITRK5):c.1373A>G (p.Asn458Ser)	SLITRK5 (N458S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320546	NM_001384609.1(SLITRK5):c.1433A>G (p.Tyr478Cys)	SLITRK5 (Y478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166096	NM_001384609.1(SLITRK5):c.1508C>G (p.Pro503Arg)	SLITRK5 (P503R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547865	NM_001384609.1(SLITRK5):c.1585A>G (p.Thr529Ala)	SLITRK5 (T529A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320560	NM_001384609.1(SLITRK5):c.1649A>G (p.Asp550Gly)	SLITRK5 (D550G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320555	NM_001384609.1(SLITRK5):c.1659G>C (p.Lys553Asn)	SLITRK5 (K553N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403196	NM_001384609.1(SLITRK5):c.1681C>A (p.His561Asn)	SLITRK5 (H561N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320547	NM_001384609.1(SLITRK5):c.1751G>C (p.Gly584Ala)	SLITRK5 (G584A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263403	NM_001384609.1(SLITRK5):c.1753G>A (p.Val585Ile)	SLITRK5 (V585I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291204	NM_001384609.1(SLITRK5):c.1799A>G (p.Glu600Gly)	SLITRK5 (E600G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166097	NM_001384609.1(SLITRK5):c.1814C>T (p.Ser605Phe)	SLITRK5 (S605F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051698	NM_001384609.1(SLITRK5):c.1829T>A (p.Leu610Gln)	SLITRK5 (L610Q)	Single nucleotide variant (missense variant)	SLITRK5-related disorder	GBenign
Select item 3166098	NM_001384609.1(SLITRK5):c.1853T>C (p.Val618Ala)	SLITRK5 (V618A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034022	NM_001384609.1(SLITRK5):c.1866G>C (p.Thr622=)	SLITRK5	Single nucleotide variant (synonymous variant)	SLITRK5-related disorder	GLikely benign
Select item 3166099	NM_001384609.1(SLITRK5):c.1909G>T (p.Val637Leu)	SLITRK5 (V637L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166100	NM_001384609.1(SLITRK5):c.1942G>A (p.Ala648Thr)	SLITRK5 (A648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271156	NM_001384609.1(SLITRK5):c.2023A>C (p.Ile675Leu)	SLITRK5 (I675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166102	NM_001384609.1(SLITRK5):c.2093A>G (p.Asp698Gly)	SLITRK5 (D698G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166103	NM_001384609.1(SLITRK5):c.2097C>G (p.His699Gln)	SLITRK5 (H699Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773272	NM_001384609.1(SLITRK5):c.2103C>T (p.Ser701=)	SLITRK5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3166104	NM_001384609.1(SLITRK5):c.2108A>G (p.Asn703Ser)	SLITRK5 (N703S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320557	NM_001384609.1(SLITRK5):c.2124C>A (p.Ser708Arg)	SLITRK5 (S708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327796	NM_001384609.1(SLITRK5):c.2164G>T (p.Gly722Cys)	SLITRK5 (G722C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166105	NM_001384609.1(SLITRK5):c.2191G>A (p.Val731Met)	SLITRK5 (V731M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047199	NM_001384609.1(SLITRK5):c.2209G>T (p.Ala737Ser)	SLITRK5 (A737S)	Single nucleotide variant (missense variant)	SLITRK5-related disorder	GLikely benign
Select item 2213715	NM_001384609.1(SLITRK5):c.2228C>T (p.Thr743Met)	SLITRK5 (T743M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320416	NM_001384609.1(SLITRK5):c.2234C>T (p.Ala745Val)	SLITRK5 (A745V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362076	NM_001384609.1(SLITRK5):c.2269G>C (p.Gly757Arg)	SLITRK5 (G757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166106	NM_001384609.1(SLITRK5):c.2341G>C (p.Glu781Gln)	SLITRK5 (E781Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306762	NM_001384609.1(SLITRK5):c.2364C>G (p.Ser788Arg)	SLITRK5 (S788R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320548	NM_001384609.1(SLITRK5):c.2378A>C (p.Gln793Pro)	SLITRK5 (Q793P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320549	NM_001384609.1(SLITRK5):c.2413C>T (p.Pro805Ser)	SLITRK5 (P805S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518668	NM_001384609.1(SLITRK5):c.2437C>A (p.Leu813Met)	SLITRK5 (L813M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166107	NM_001384609.1(SLITRK5):c.2461G>A (p.Glu821Lys)	SLITRK5 (E821K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352824	NM_001384609.1(SLITRK5):c.2464A>C (p.Arg822=)	SLITRK5	Single nucleotide variant (synonymous variant)	SLITRK5-related disorder	GLikely benign
Select item 402167	NM_001384609.1(SLITRK5):c.2515G>C (p.Glu839Gln)	SLITRK5 (E839Q)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 3166108	NM_001384609.1(SLITRK5):c.2517G>C (p.Glu839Asp)	SLITRK5 (E839D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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