ClinVar for Gene (Select 85395) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248201	NC_000021.8:g.(?_45647421)_(47865240_?)dup	KRTAP10-7, KRTAP12-2 +44 more	Duplication	not provided	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	TFF2, UBE2G2 +216 more	Copy number gain	not provided	GPathogenic
Select item 3166229	NM_058190.4(SLX9):c.686A>C (p.Gln229Pro)	SLX9 (Q229P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166228	NM_058190.4(SLX9):c.659G>T (p.Arg220Leu)	SLX9 (R197L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166227	NM_058190.4(SLX9):c.658C>T (p.Arg220Trp)	SLX9 (R182W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166226	NM_058190.4(SLX9):c.617A>G (p.Tyr206Cys)	SLX9 (Y206C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166225	NM_058190.4(SLX9):c.59G>A (p.Gly20Glu)	SLX9 (G20E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166224	NM_058190.4(SLX9):c.587G>A (p.Arg196Gln)	SLX9 (R173Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166223	NM_058190.4(SLX9):c.56A>G (p.Lys19Arg)	SLX9 (K19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166222	NM_058190.4(SLX9):c.563A>T (p.Gln188Leu)	SLX9 (Q172L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166221	NM_058190.4(SLX9):c.511A>G (p.Asn171Asp)	SLX9 (N63D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166220	NM_058190.4(SLX9):c.505G>A (p.Glu169Lys)	SLX9 (E154K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166219	NM_058190.4(SLX9):c.496C>T (p.Arg166Cys)	SLX9 (R59C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166218	NM_058190.4(SLX9):c.487C>T (p.Arg163Cys)	SLX9 (R148C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166217	NM_058190.4(SLX9):c.413C>T (p.Thr138Met)	SLX9 (T138M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166216	NM_058190.4(SLX9):c.397C>T (p.Arg133Trp)	SLX9 (R133W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166215	NM_058190.4(SLX9):c.335G>A (p.Arg112His)	SLX9 (R112H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166214	NM_058190.4(SLX9):c.314A>G (p.Lys105Arg)	SLX9 (K90R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166213	NM_058190.4(SLX9):c.301G>A (p.Val101Ile)	SLX9 (V101I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3166212	NM_058190.4(SLX9):c.211G>A (p.Val71Met)	SLX9 (V71M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166211	NM_058190.4(SLX9):c.198G>C (p.Lys66Asn)	SLX9 (K66N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166210	NM_058190.4(SLX9):c.136G>A (p.Ala46Thr)	SLX9 (A46T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166209	NM_058190.4(SLX9):c.100A>C (p.Thr34Pro)	SLX9 (T34P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2590122	NM_058190.4(SLX9):c.88G>A (p.Ala30Thr)	SLX9 (A30T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525128	NM_058190.4(SLX9):c.457G>A (p.Glu153Lys)	SLX9 (E138K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507509	NM_058190.4(SLX9):c.520C>T (p.Arg174Trp)	SLX9 (R66W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458291	NM_058190.4(SLX9):c.509G>A (p.Ser170Asn)	SLX9 (S154N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1808234	GRCh37/hg19 21q22.3(chr21:46247514-46657568)x4	ADARB1, ITGB2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1710511	GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1	SUMO3, TRPM2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526725	GRCh37/hg19 21q22.3(chr21:45773272-48097372)	ADARB1, C21orf58 +42 more	Copy number loss	not specified	GPathogenic
Select item 1526724	GRCh37/hg19 21q22.3(chr21:45265857-47057233)	ADARB1, AGPAT3 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	AGPAT3, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1412950	NC_000021.8:g.(?_46306283)_(47865240_?)del	MCM3AP, POFUT2 +17 more	Deletion	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP10-1, KRTAP10-10 +74 more	Duplication	Cataract 9 multiple types +2 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980240	GRCh37/hg19 21q22.3(chr21:46321547-46556804)x3	SLX9, ITGB2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816182	GRCh37/hg19 21q22.3(chr21:46297745-46410660)x1	SLX9, ITGB2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 816181	GRCh37/hg19 21q22.3(chr21:45996567-46593248)x3	TSPEAR, LINC00163 +18 more	Copy number gain	not provided	GUncertain significance
Select item 816180	GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1	ADARB1, C21orf58 +41 more	Copy number loss	not provided	GUncertain significance
Select item 816179	GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1	ADARB1, AIRE +50 more	Copy number loss	not provided	GLikely pathogenic
Select item 816178	GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1	ADARB1, AGPAT3 +54 more	Copy number loss	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 686963	GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1	ADARB1, AGPAT3 +51 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 635900	Single allele	ADARB1, AGPAT3 +43 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 560066	Single allele	ADARB1, C21orf58 +19 more	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443781	GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3	AGPAT3, AIRE +37 more	Copy number gain	See cases	GUncertain significance
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443167	GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	BTG3, C21orf58 +217 more	Copy number gain	See cases	GPathogenic
Select item 393944	GRCh37/hg19 21q22.3(chr21:46305956-46624646)x3	ADARB1, ITGB2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253527	GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1	ADARB1, C21orf58 +19 more	Copy number loss	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 221356	chr21:45970718..47545826 complex variant	ADARB1, COL18A1 +29 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154064	GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1	ADARB1, BNAT1 +69 more	Copy number loss	See cases	GUncertain significance
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic

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