20294[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 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 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 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 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 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 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 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	LINC00426, LINC00427 +118 more	Copy number loss	See cases	GPathogenic
Select item 1338830	GRCh38/hg38 13q12.3(chr13:30194283-31591879)	ALOX5AP, B3GLCT +51 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	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 58144	GRCh38/hg38 13q12.3(chr13:30336888-30830135)x1	ALOX5AP, HMGB1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 3187865	NM_005800.5(USPL1):c.8A>T (p.Asp3Val)	USPL1 (D3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387359	NM_005800.5(USPL1):c.76C>T (p.His26Tyr)	USPL1 (H26Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492003	NM_005800.5(USPL1):c.97A>G (p.Lys33Glu)	USPL1 (K33E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331682	NM_005800.5(USPL1):c.118G>A (p.Val40Ile)	USPL1 (V40I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209581	NM_005800.5(USPL1):c.185G>A (p.Arg62Gln)	USPL1 (R62Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3187858	NM_005800.5(USPL1):c.239C>G (p.Pro80Arg)	USPL1 (P80R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2328835	NM_005800.5(USPL1):c.257T>G (p.Leu86Arg)	USPL1 (L86R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2375438	NM_005800.5(USPL1):c.261T>A (p.Asn87Lys)	USPL1 (N87K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2365307	NM_005800.5(USPL1):c.264C>A (p.Asn88Lys)	USPL1 (N88K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2491809	NM_005800.5(USPL1):c.274C>G (p.Pro92Ala)	USPL1 (P92A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2454951	NM_005800.5(USPL1):c.288A>C (p.Glu96Asp)	USPL1 (E96D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2337541	NM_005800.5(USPL1):c.391A>G (p.Ile131Val)	USPL1 (I131V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2304709	NM_005800.5(USPL1):c.413A>G (p.Asn138Ser)	USPL1 (N138S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2228797	NM_005800.5(USPL1):c.428G>A (p.Gly143Glu)	USPL1 (G143E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3331681	NM_005800.5(USPL1):c.433G>A (p.Val145Ile)	USPL1 (V145I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187864	NM_005800.5(USPL1):c.511C>T (p.Arg171Trp)	USPL1 (R171W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2324904	NM_005800.5(USPL1):c.593G>A (p.Arg198Lys)	USPL1 (R198K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536924	NM_005800.5(USPL1):c.595C>A (p.Pro199Thr)	USPL1 (P199T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2205375	NM_005800.5(USPL1):c.661T>C (p.Phe221Leu)	USPL1 (F40L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543870	NM_005800.5(USPL1):c.701C>T (p.Ala234Val)	USPL1 (A53V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509596	NM_005800.5(USPL1):c.743C>T (p.Ser248Leu)	USPL1 (S67L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2519733	NM_005800.5(USPL1):c.770G>A (p.Gly257Glu)	USPL1 (G76E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2552550	NM_005800.5(USPL1):c.793A>G (p.Ile265Val)	USPL1 (I265V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2407641	NM_005800.5(USPL1):c.793A>C (p.Ile265Leu)	USPL1 (I265L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283229	NM_005800.5(USPL1):c.878G>C (p.Cys293Ser)	USPL1 (C112S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602544	NM_005800.5(USPL1):c.890C>G (p.Thr297Ser)	USPL1 (T116S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331690	NM_005800.5(USPL1):c.988A>G (p.Met330Val)	USPL1 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331685	NM_005800.5(USPL1):c.1018C>G (p.Leu340Val)	USPL1 (L11V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522747	NM_005800.5(USPL1):c.1098C>A (p.His366Gln)	USPL1 (H366Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620857	NM_005800.5(USPL1):c.1126C>G (p.Leu376Val)	USPL1 (L195V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215885	NM_005800.5(USPL1):c.1174G>T (p.Ala392Ser)	USPL1 (A63S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215886	NM_005800.5(USPL1):c.1195A>C (p.Asn399His)	USPL1 (N70H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492274	NM_005800.5(USPL1):c.1276T>G (p.Leu426Val)	USPL1 (L245V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331696	NM_005800.5(USPL1):c.1433G>A (p.Cys478Tyr)	USPL1 (C149Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554023	NM_005800.5(USPL1):c.1480A>G (p.Ile494Val)	USPL1 (I313V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621098	NM_005800.5(USPL1):c.1516G>C (p.Asp506His)	USPL1 (D325H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221751	NM_005800.5(USPL1):c.1648C>T (p.Pro550Ser)	USPL1 (P369S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359160	NM_005800.5(USPL1):c.1672C>T (p.Arg558Cys)	USPL1 (R229C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331689	NM_005800.5(USPL1):c.1708G>A (p.Asp570Asn)	USPL1 (D570N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350650	NM_005800.5(USPL1):c.1745A>G (p.Asn582Ser)	USPL1 (N253S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351892	NM_005800.5(USPL1):c.1762C>G (p.Leu588Val)	USPL1 (L259V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331686	NM_005800.5(USPL1):c.1768G>C (p.Glu590Gln)	USPL1 (E409Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187854	NM_005800.5(USPL1):c.1907T>G (p.Val636Gly)	USPL1 (V307G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187853	NM_005800.5(USPL1):c.1907T>A (p.Val636Glu)	USPL1 (V307E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223279	NM_005800.5(USPL1):c.1922A>G (p.Asn641Ser)	USPL1 (N312S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331691	NM_005800.5(USPL1):c.1966T>C (p.Ser656Pro)	USPL1 (S327P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331679	NM_005800.5(USPL1):c.1982C>T (p.Thr661Ile)	USPL1 (T480I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331684	NM_005800.5(USPL1):c.2051C>A (p.Ala684Asp)	USPL1 (A684D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187855	NM_005800.5(USPL1):c.2080G>A (p.Val694Ile)	USPL1 (V365I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479851	NM_005800.5(USPL1):c.2113T>C (p.Phe705Leu)	USPL1 (F376L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288298	NM_005800.5(USPL1):c.2150G>A (p.Arg717His)	USPL1 (R717H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252669	NM_005800.5(USPL1):c.2344A>G (p.Thr782Ala)	USPL1 (T782A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187856	NM_005800.5(USPL1):c.2375G>C (p.Gly792Ala)	USPL1 (G792A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187857	NM_005800.5(USPL1):c.2389G>T (p.Gly797Cys)	USPL1 (G468C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331687	NM_005800.5(USPL1):c.2407G>A (p.Gly803Ser)	USPL1 (G622S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331680	NM_005800.5(USPL1):c.2431G>A (p.Val811Ile)	USPL1 (V482I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484237	NM_005800.5(USPL1):c.2438A>G (p.Lys813Arg)	USPL1 (K484R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470252	NM_005800.5(USPL1):c.2447G>A (p.Arg816His)	USPL1 (R487H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524399	NM_005800.5(USPL1):c.2522A>G (p.His841Arg)	USPL1 (H512R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331688	NM_005800.5(USPL1):c.2533C>T (p.His845Tyr)	USPL1 (H664Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187859	NM_005800.5(USPL1):c.2551T>G (p.Leu851Val)	USPL1 (L851V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207206	NM_005800.5(USPL1):c.2567G>C (p.Ser856Thr)	USPL1 (S527T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327068	NM_005800.5(USPL1):c.2577T>G (p.Cys859Trp)	USPL1 (C530W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331695	NM_005800.5(USPL1):c.2608A>C (p.Asn870His)	USPL1 (N541H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522331	NM_005800.5(USPL1):c.2710G>C (p.Ala904Pro)	USPL1 (A904P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187860	NM_005800.5(USPL1):c.2716C>T (p.Leu906Phe)	USPL1 (L725F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471357	NM_005800.5(USPL1):c.2737A>G (p.Arg913Gly)	USPL1 (R584G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470382	NM_005800.5(USPL1):c.2747G>A (p.Arg916Gln)	USPL1 (R916Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275851	NM_005800.5(USPL1):c.2767G>C (p.Val923Leu)	USPL1 (V594L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516855	NM_005800.5(USPL1):c.2777A>T (p.Asp926Val)	USPL1 (D597V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406772	NM_005800.5(USPL1):c.2799A>C (p.Glu933Asp)	USPL1 (E752D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228685	NM_005800.5(USPL1):c.2872C>G (p.Pro958Ala)	USPL1 (P958A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331692	NM_005800.5(USPL1):c.2879T>C (p.Val960Ala)	USPL1 (V779A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263633	NM_005800.5(USPL1):c.2900C>G (p.Thr967Ser)	USPL1 (T786S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187861	NM_005800.5(USPL1):c.2918C>T (p.Ala973Val)	USPL1 (A973V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305571	NM_005800.5(USPL1):c.2941G>T (p.Val981Phe)	USPL1 (V800F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283121	NM_005800.5(USPL1):c.2960A>G (p.Glu987Gly)	USPL1 (E987G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331693	NM_005800.5(USPL1):c.2968G>A (p.Glu990Lys)	USPL1 (E661K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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