10525[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3285132	NM_001130991.3(HYOU1):c.2991C>G (p.Asp997Glu)	HYOU1 (D997E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2955651	NM_006389.5(HYOU1):c.2988C>T (p.Asn996=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2955356	NM_006389.5(HYOU1):c.2975G>A (p.Arg992Gln)	HYOU1 (R993Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908153	NM_006389.5(HYOU1):c.2961G>A (p.Ser987=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2336476	NM_006389.5(HYOU1):c.2951A>G (p.Lys984Arg)	HYOU1 (K985R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107759	NM_001130991.3(HYOU1):c.2941C>T (p.Pro981Ser)	HYOU1 (P981S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1147820	NM_006389.5(HYOU1):c.2938+20T>C	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551860	NM_006389.5(HYOU1):c.2938+19C>A	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1087014	NM_006389.5(HYOU1):c.2938+15G>A	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045387	NM_006389.5(HYOU1):c.2938+14C>T	HYOU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2746292	NM_006389.5(HYOU1):c.2938+4A>G	HYOU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2764693	NM_006389.5(HYOU1):c.2937A>T (p.Ala979=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2796847	NM_006389.5(HYOU1):c.2933G>C (p.Gly978Ala)	HYOU1 (G978A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920698	NM_006389.5(HYOU1):c.2918A>G (p.Glu973Gly)	HYOU1 (E973G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110598	NM_006389.5(HYOU1):c.2909A>C (p.Glu970Ala)	HYOU1 (E970A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917493	NM_006389.5(HYOU1):c.2900G>A (p.Gly967Glu)	HYOU1 (G968E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918976	NM_006389.5(HYOU1):c.2898A>G (p.Pro966=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1480576	NM_006389.5(HYOU1):c.2893G>A (p.Glu965Lys)	HYOU1 (E965K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078616	NM_006389.5(HYOU1):c.2892C>T (p.Ser964=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747937	NM_006389.5(HYOU1):c.2888G>A (p.Gly963Glu)	HYOU1 (G964E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023955	NM_006389.5(HYOU1):c.2888-11T>C	HYOU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1167389	NM_006389.5(HYOU1):c.2888-13C>G	HYOU1	Single nucleotide variant (intron variant)	Granulocytopenia with immunoglobulin abnormality +1 more	GBenign/Likely benign
Select item 2114023	NM_006389.5(HYOU1):c.2888-18_2888-14del	HYOU1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1169294	NM_006389.5(HYOU1):c.2888-14T>C	HYOU1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2002038	NM_006389.5(HYOU1):c.2887+20G>A	HYOU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1659603	NM_006389.5(HYOU1):c.2887+12C>T	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1367764	NM_006389.5(HYOU1):c.2886T>C (p.Thr962=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1428753	NM_006389.5(HYOU1):c.2883G>T (p.Glu961Asp)	HYOU1 (E961D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662506	NM_006389.5(HYOU1):c.2856G>A (p.Glu952=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577405	NM_006389.5(HYOU1):c.2853A>G (p.Ala951=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389702	NM_006389.5(HYOU1):c.2849A>G (p.Asp950Gly)	HYOU1 (D950G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016970	NM_006389.5(HYOU1):c.2842A>T (p.Thr948Ser)	HYOU1 (T948S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720297	NM_006389.5(HYOU1):c.2840A>T (p.Gln947Leu)	HYOU1 (Q947L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769535	NM_006389.5(HYOU1):c.2838C>T (p.Gly946=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560925	NM_006389.5(HYOU1):c.2838C>G (p.Gly946=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980582	NM_006389.5(HYOU1):c.2837-18C>A	HYOU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1556854	NM_006389.5(HYOU1):c.2837-20T>C	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544123	NM_006389.5(HYOU1):c.2837-20T>G	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1158774	NM_006389.5(HYOU1):c.2836+10G>A	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972034	NM_006389.5(HYOU1):c.2820G>A (p.Lys940=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1496508	NM_006389.5(HYOU1):c.2810A>G (p.Gln937Arg)	HYOU1 (Q937R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881020	NM_006389.5(HYOU1):c.2803A>G (p.Ser935Gly)	HYOU1 (S935G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783594	NM_006389.5(HYOU1):c.2796C>T (p.Ala932=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1721791	NM_006389.5(HYOU1):c.2795C>T (p.Ala932Val)	HYOU1 (A932V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724623	NM_006389.5(HYOU1):c.2792A>G (p.Asn931Ser)	HYOU1 (N931S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949941	NM_006389.5(HYOU1):c.2790C>G (p.Leu930=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 999604	NM_006389.5(HYOU1):c.2789T>G (p.Leu930Arg)	HYOU1 (L930R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979072	NM_006389.5(HYOU1):c.2788C>G (p.Leu930Val)	HYOU1 (L930V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394824	NM_006389.5(HYOU1):c.2782C>T (p.Pro928Ser)	HYOU1 (P928S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021414	NM_006389.5(HYOU1):c.2774G>A (p.Arg925Gln)	HYOU1 (R925Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1505529	NM_006389.5(HYOU1):c.2773C>T (p.Arg925Trp)	HYOU1 (R925W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1652639	NM_006389.5(HYOU1):c.2772C>G (p.Thr924=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1056226	NM_006389.5(HYOU1):c.2755A>G (p.Lys919Glu)	HYOU1 (K919E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480653	NM_006389.5(HYOU1):c.2742CCGGCC[1] (p.915RP[1])	HYOU1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1435831	NM_006389.5(HYOU1):c.2750G>A (p.Arg917Gln)	HYOU1 (R917Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1946991	NM_006389.5(HYOU1):c.2744G>A (p.Arg915Gln)	HYOU1 (R915Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421846	NM_006389.5(HYOU1):c.2743C>T (p.Arg915Trp)	HYOU1 (R915W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593749	NM_006389.5(HYOU1):c.2739G>A (p.Lys913=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174296	NM_006389.5(HYOU1):c.2707C>G (p.Gln903Glu)	HYOU1 (Q903E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856255	NM_006389.5(HYOU1):c.2699G>T (p.Arg900Leu)	HYOU1 (R900L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2242595	NM_006389.5(HYOU1):c.2699G>A (p.Arg900Gln)	HYOU1 (R900Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3019339	NM_006389.5(HYOU1):c.2684T>C (p.Met895Thr)	HYOU1 (M895T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026035	NM_006389.5(HYOU1):c.2682G>A (p.Lys894=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1424388	NM_006389.5(HYOU1):c.2672T>C (p.Ile891Thr)	HYOU1 (I891T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383116	NM_006389.5(HYOU1):c.2650C>A (p.Pro884Thr)	HYOU1 (P884T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382308	NM_006389.5(HYOU1):c.2650C>G (p.Pro884Ala)	HYOU1 (P884A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2802783	NM_006389.5(HYOU1):c.2649G>T (p.Lys883Asn)	HYOU1 (K883N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036041	NM_006389.5(HYOU1):c.2638G>A (p.Ala880Thr)	HYOU1 (A880T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1650961	NM_006389.5(HYOU1):c.2637C>T (p.Pro879=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355784	NM_006389.5(HYOU1):c.2620G>A (p.Glu874Lys)	HYOU1 (E874K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577315	NM_006389.5(HYOU1):c.2619C>T (p.Ala873=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378464	NM_006389.5(HYOU1):c.2618C>A (p.Ala873Asp)	HYOU1 (A873D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437692	NM_006389.5(HYOU1):c.2614C>G (p.Leu872Val)	HYOU1 (L872V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1975169	NM_006389.5(HYOU1):c.2595+19C>T	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653506	NM_006389.5(HYOU1):c.2595+17T>C	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652154	NM_006389.5(HYOU1):c.2595+15A>G	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902418	NM_006389.5(HYOU1):c.2595+12G>A	HYOU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1899555	NM_006389.5(HYOU1):c.2595+11C>T	HYOU1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816785	NM_006389.5(HYOU1):c.2595+9T>C	HYOU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2960254	NM_006389.5(HYOU1):c.2595+7A>G	HYOU1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2185139	NM_006389.5(HYOU1):c.2585A>G (p.Asn862Ser)	HYOU1 (N862S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817511	NM_006389.5(HYOU1):c.2581A>C (p.Ile861Leu)	HYOU1 (I861L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563772	NM_006389.5(HYOU1):c.2568G>A (p.Thr856=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972072	NM_006389.5(HYOU1):c.2567C>T (p.Thr856Met)	HYOU1 (T856M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024113	NM_006389.5(HYOU1):c.2541G>A (p.Gln847=)	HYOU1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1717238	NM_006389.5(HYOU1):c.2530G>C (p.Glu844Gln)	HYOU1 (E844Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431272	NM_006389.5(HYOU1):c.2519G>A (p.Arg840Gln)	HYOU1 (R840Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205320	NM_006389.5(HYOU1):c.2518C>T (p.Arg840Trp)	HYOU1 (R840W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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