55757[Gene ID] - 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 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 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 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 150153	GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1	LOC130010040, LOC130010041 +236 more	Copy number loss	See cases	GPathogenic
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 57679	GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1	ABCC4, CLDN10 +88 more	Copy number loss	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 57681	GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1	ABCC4, CLDN10 +73 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 2491699	NM_020121.4(UGGT2):c.4526C>A (p.Thr1509Lys)	UGGT2 (T1509K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545009	NM_020121.4(UGGT2):c.4505T>C (p.Leu1502Pro)	UGGT2 (L1502P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523925	NM_020121.4(UGGT2):c.4391C>T (p.Thr1464Ile)	UGGT2 (T1464I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643878	NM_020121.4(UGGT2):c.4314C>T (p.Val1438=)	UGGT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 152616	GRCh38/hg38 13q32.1(chr13:95851815-95983626)x1	UGGT2	Copy number loss	See cases	GLikely benign
Select item 2239869	NM_020121.4(UGGT2):c.4277T>A (p.Leu1426Gln)	UGGT2 (L1426Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299825	NM_020121.4(UGGT2):c.4240C>G (p.Gln1414Glu)	UGGT2 (Q1414E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186085	NM_020121.4(UGGT2):c.4172C>T (p.Ala1391Val)	UGGT2 (A1391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208708	NM_020121.4(UGGT2):c.4163A>G (p.His1388Arg)	UGGT2 (H1388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362095	NM_020121.4(UGGT2):c.4153C>T (p.Arg1385Trp)	UGGT2 (R1385W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774710	NM_020121.4(UGGT2):c.4105G>A (p.Gly1369Arg)	UGGT2 (G1369R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2466514	NM_020121.4(UGGT2):c.4031A>T (p.Glu1344Val)	UGGT2 (E1344V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186084	NM_020121.4(UGGT2):c.3973G>C (p.Ala1325Pro)	UGGT2 (A1325P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389906	NM_020121.4(UGGT2):c.3946C>A (p.Leu1316Ile)	UGGT2 (L1316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600873	NM_020121.4(UGGT2):c.3898C>T (p.Leu1300Phe)	UGGT2 (L1300F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768624	NM_020121.4(UGGT2):c.3854A>T (p.Tyr1285Phe)	UGGT2 (Y1285F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2486016	NM_020121.4(UGGT2):c.3792G>C (p.Trp1264Cys)	UGGT2 (W1264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395957	NM_020121.4(UGGT2):c.3764G>A (p.Arg1255His)	UGGT2 (R1255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330817	NM_020121.4(UGGT2):c.3731G>A (p.Arg1244His)	UGGT2 (R1244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216985	NM_020121.4(UGGT2):c.3725A>G (p.Tyr1242Cys)	UGGT2 (Y1242C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186080	NM_020121.4(UGGT2):c.3715G>A (p.Gly1239Ser)	UGGT2 (G1239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186079	NM_020121.4(UGGT2):c.3700T>G (p.Phe1234Val)	UGGT2 (F1234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728055	NM_020121.4(UGGT2):c.3636C>T (p.Ser1212=)	UGGT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557062	NM_020121.4(UGGT2):c.3458T>C (p.Ile1153Thr)	UGGT2 (I1153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324623	NM_020121.4(UGGT2):c.3440A>G (p.Gln1147Arg)	UGGT2 (Q1147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330815	NM_020121.4(UGGT2):c.3392A>G (p.Tyr1131Cys)	UGGT2 (Y1131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186078	NM_020121.4(UGGT2):c.3379G>A (p.Ala1127Thr)	UGGT2 (A1127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509672	NM_020121.4(UGGT2):c.3317G>A (p.Arg1106Gln)	UGGT2 (R1106Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186077	NM_020121.4(UGGT2):c.3284A>G (p.Gln1095Arg)	UGGT2 (Q1095R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344999	NM_020121.4(UGGT2):c.3226G>A (p.Asp1076Asn)	UGGT2 (D1076N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244559	NM_020121.4(UGGT2):c.3214A>G (p.Ile1072Val)	UGGT2 (I1072V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542477	NM_020121.4(UGGT2):c.3208G>A (p.Asp1070Asn)	UGGT2 (D1070N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608309	NM_020121.4(UGGT2):c.3153C>A (p.Asn1051Lys)	UGGT2 (N1051K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330818	NM_020121.4(UGGT2):c.3097C>T (p.Leu1033Phe)	UGGT2 (L1033F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373090	NM_020121.4(UGGT2):c.3095C>G (p.Ser1032Cys)	UGGT2 (S1032C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186076	NM_020121.4(UGGT2):c.3046C>T (p.Arg1016Cys)	UGGT2 (R1016C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768625	NM_020121.4(UGGT2):c.2958+10T>C	UGGT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2614022	NM_020121.4(UGGT2):c.2884G>A (p.Asp962Asn)	UGGT2 (D962N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615581	NM_020121.4(UGGT2):c.2861T>C (p.Ile954Thr)	UGGT2 (I954T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186075	NM_020121.4(UGGT2):c.2791C>T (p.Leu931Phe)	UGGT2 (L931F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186074	NM_020121.4(UGGT2):c.2782G>A (p.Val928Ile)	UGGT2 (V928I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186073	NM_020121.4(UGGT2):c.2755A>C (p.Asn919His)	UGGT2 (N919H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186072	NM_020121.4(UGGT2):c.2752G>A (p.Ala918Thr)	UGGT2 (A918T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540454	NM_020121.4(UGGT2):c.2743G>A (p.Gly915Arg)	UGGT2 (G915R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329228	NM_020121.4(UGGT2):c.2627A>G (p.Asn876Ser)	UGGT2 (N876S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186071	NM_020121.4(UGGT2):c.2624G>C (p.Ser875Thr)	UGGT2 (S875T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331086	NM_020121.4(UGGT2):c.2537A>G (p.Asn846Ser)	UGGT2 (N846S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590310	NM_020121.4(UGGT2):c.2464A>G (p.Ile822Val)	UGGT2 (I822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379501	NM_020121.4(UGGT2):c.2314C>T (p.Arg772Trp)	UGGT2 (R772W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728056	NM_020121.4(UGGT2):c.2313T>C (p.Ser771=)	UGGT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2460038	NM_020121.4(UGGT2):c.2257T>C (p.Ser753Pro)	UGGT2 (S753P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2556903	NM_020121.4(UGGT2):c.2206A>C (p.Ser736Arg)	UGGT2 (S736R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186068	NM_020121.4(UGGT2):c.2145T>G (p.Asp715Glu)	UGGT2 (D715E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643879	NM_020121.4(UGGT2):c.2102T>G (p.Val701Gly)	UGGT2 (V701G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1326582	NM_020121.4(UGGT2):c.2101+5A>G	UGGT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2600080	NM_020121.4(UGGT2):c.2080C>T (p.Leu694Phe)	UGGT2 (L694F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186067	NM_020121.4(UGGT2):c.2063G>A (p.Arg688His)	UGGT2 (R688H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511954	NM_020121.4(UGGT2):c.2039C>G (p.Pro680Arg)	UGGT2 (P680R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377067	NM_020121.4(UGGT2):c.2024G>C (p.Arg675Thr)	UGGT2 (R675T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284737	NM_020121.4(UGGT2):c.2022T>G (p.Asp674Glu)	UGGT2 (D674E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590226	NM_020121.4(UGGT2):c.1994G>A (p.Arg665His)	UGGT2 (R665H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345765	NM_020121.4(UGGT2):c.1880C>G (p.Pro627Arg)	UGGT2 (P627R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539651	NM_020121.4(UGGT2):c.1735G>A (p.Val579Ile)	UGGT2 (V579I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362681	NM_020121.4(UGGT2):c.1712T>G (p.Leu571Arg)	UGGT2 (L571R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209638	NM_020121.4(UGGT2):c.1709T>C (p.Ile570Thr)	UGGT2 (I570T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291845	NM_020121.4(UGGT2):c.1655A>G (p.Glu552Gly)	UGGT2 (E552G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340856	NM_020121.4(UGGT2):c.1628A>G (p.Tyr543Cys)	UGGT2 (Y543C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186066	NM_020121.4(UGGT2):c.1618G>C (p.Ala540Pro)	UGGT2 (A540P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246036	NM_020121.4(UGGT2):c.1546G>T (p.Gly516Cys)	UGGT2 (G516C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514456	NM_020121.4(UGGT2):c.1492G>T (p.Asp498Tyr)	UGGT2 (D498Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186065	NM_020121.4(UGGT2):c.1366T>A (p.Tyr456Asn)	UGGT2 (Y456N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330899	NM_020121.4(UGGT2):c.1340T>C (p.Ile447Thr)	UGGT2 (I447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149209	GRCh38/hg38 13q32.1(chr13:95970073-96571702)x1	HS6ST3, MIR4501 +1 more	Copy number loss	See cases	GUncertain significance

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