ClinVar for Gene (Select 386676) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289641	NM_198690.3(KRTAP10-9):c.23T>C (p.Ile8Thr)	KRTAP10-9, TSPEAR (I8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289640	NM_198690.3(KRTAP10-9):c.713T>C (p.Val238Ala)	KRTAP10-9, TSPEAR (V238A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289639	NM_198690.3(KRTAP10-9):c.411G>C (p.Gln137His)	KRTAP10-9, TSPEAR (Q137H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289638	NM_198690.3(KRTAP10-9):c.637T>C (p.Ser213Pro)	KRTAP10-9, TSPEAR (S213P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289637	NM_198690.3(KRTAP10-9):c.131C>G (p.Thr44Ser)	KRTAP10-9, TSPEAR (T44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289636	NM_198690.3(KRTAP10-9):c.125G>C (p.Cys42Ser)	KRTAP10-9, TSPEAR (C42S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289635	NM_198690.3(KRTAP10-9):c.85C>T (p.Pro29Ser)	KRTAP10-9, TSPEAR (P29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289634	NM_198690.3(KRTAP10-9):c.7G>A (p.Ala3Thr)	KRTAP10-9, TSPEAR (A3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289633	NM_198690.3(KRTAP10-9):c.154C>T (p.Arg52Cys)	KRTAP10-9, TSPEAR (R52C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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	ADARB1, AIRE +44 more	Duplication	not provided	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
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 3116913	NM_198690.3(KRTAP10-9):c.88C>T (p.Pro30Ser)	KRTAP10-9, TSPEAR (P30S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116912	NM_198690.3(KRTAP10-9):c.863A>G (p.Gln288Arg)	KRTAP10-9, TSPEAR (Q288R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116911	NM_198690.3(KRTAP10-9):c.784T>C (p.Cys262Arg)	KRTAP10-9, TSPEAR (C262R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116910	NM_198690.3(KRTAP10-9):c.719G>A (p.Arg240Lys)	KRTAP10-9, TSPEAR (R240K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116908	NM_198690.3(KRTAP10-9):c.337G>A (p.Val113Ile)	KRTAP10-9, TSPEAR (V113I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116907	NM_198690.3(KRTAP10-9):c.307G>A (p.Val103Ile)	KRTAP10-9, TSPEAR (V103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116906	NM_198690.3(KRTAP10-9):c.283T>G (p.Cys95Gly)	KRTAP10-9, TSPEAR (C95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116905	NM_198690.3(KRTAP10-9):c.151A>T (p.Ser51Cys)	KRTAP10-9, TSPEAR (S51C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116904	NM_198690.3(KRTAP10-9):c.131C>A (p.Thr44Asn)	KRTAP10-9, TSPEAR (T44N)	Single nucleotide variant (missense variant +1 more)	not specified	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	ABCG1, ADAMTS1 +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	ABCG1, ADARB1 +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 2652773	NM_198690.3(KRTAP10-9):c.759C>T (p.Pro253=)	KRTAP10-9, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652772	NM_198690.3(KRTAP10-9):c.72G>A (p.Glu24=)	KRTAP10-9, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621062	NM_198690.3(KRTAP10-9):c.94T>G (p.Cys32Gly)	KRTAP10-9, TSPEAR (C32G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621061	NM_198690.3(KRTAP10-9):c.86C>T (p.Pro29Leu)	KRTAP10-9, TSPEAR (P29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620464	NM_198690.3(KRTAP10-9):c.448T>C (p.Cys150Arg)	KRTAP10-9, TSPEAR (C150R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591170	NM_198690.3(KRTAP10-9):c.227C>T (p.Thr76Met)	KRTAP10-9, TSPEAR (T76M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538776	NM_198690.3(KRTAP10-9):c.97G>A (p.Ala33Thr)	KRTAP10-9, TSPEAR (A33T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2492505	NM_198690.3(KRTAP10-9):c.739G>C (p.Val247Leu)	KRTAP10-9, TSPEAR (V247L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460118	NM_198690.3(KRTAP10-9):c.85C>A (p.Pro29Thr)	KRTAP10-9, TSPEAR (P29T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456883	NM_198690.3(KRTAP10-9):c.733G>A (p.Val245Met)	KRTAP10-9, TSPEAR (V245M)	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 2397155	NM_198690.3(KRTAP10-9):c.404C>T (p.Ser135Phe)	KRTAP10-9, TSPEAR (S135F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389522	NM_198690.3(KRTAP10-9):c.697C>T (p.Leu233Phe)	KRTAP10-9, TSPEAR (L233F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379090	NM_198690.3(KRTAP10-9):c.337G>C (p.Val113Leu)	KRTAP10-9, TSPEAR (V113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356943	NM_198690.3(KRTAP10-9):c.112G>A (p.Ala38Thr)	KRTAP10-9, TSPEAR (A38T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352457	NM_198690.3(KRTAP10-9):c.760A>G (p.Thr254Ala)	KRTAP10-9, TSPEAR (T254A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2350609	NM_198690.3(KRTAP10-9):c.301G>A (p.Val101Met)	KRTAP10-9, TSPEAR (V101M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332784	NM_198690.3(KRTAP10-9):c.826T>A (p.Cys276Ser)	KRTAP10-9, TSPEAR (C276S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320831	NM_198690.3(KRTAP10-9):c.854C>G (p.Ser285Cys)	KRTAP10-9, TSPEAR (S285C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320830	NM_198690.3(KRTAP10-9):c.850T>C (p.Phe284Leu)	KRTAP10-9, TSPEAR (F284L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311446	NM_198690.3(KRTAP10-9):c.17T>C (p.Met6Thr)	KRTAP10-9, TSPEAR (M6T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307065	NM_198690.3(KRTAP10-9):c.233C>T (p.Ser78Leu)	KRTAP10-9, TSPEAR (S78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304807	NM_198690.3(KRTAP10-9):c.503G>T (p.Cys168Phe)	KRTAP10-9, TSPEAR (C168F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281182	NM_198690.3(KRTAP10-9):c.89C>T (p.Pro30Leu)	KRTAP10-9, TSPEAR (P30L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809303	GRCh37/hg19 21q22.3(chr21:45843864-46176026)x3	KRTAP10-1, KRTAP10-10 +17 more	Copy number gain	not provided	GUncertain significance
Select item 1809073	GRCh37/hg19 21q22.3(chr21:45727195-46161988)x4	CFAP410, KRTAP10-1 +19 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	ABCG1, ADAMTS1 +217 more	Copy number gain	Down 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)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	ABCG1, 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 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP10-9, KRTAP12-1 +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	COL6A2, KRTAP20-3 +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 833483	NC_000021.8:g.(?_45725202)_(46234019_?)dup	CFAP410, KRTAP10-1 +21 more	Duplication	not provided	GUncertain significance
Select item 833361	NC_000021.8:g.(?_45725202)_(46131429_?)dup	CFAP410, KRTAP10-1 +19 more	Duplication	not provided	GUncertain significance
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	KRTAP10-2, KRTAP10-3 +47 more	Duplication	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 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 688323	GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1	AGPAT3, AIRE +47 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	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 685904	GRCh37/hg19 21q22.3(chr21:45992953-46151301)x1	KRTAP10-9, KRTAP12-1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 684975	GRCh37/hg19 21q22.3(chr21:45966645-46077563)x1	KRTAP10-10, KRTAP10-11 +10 more	Copy number loss	not provided	GUncertain significance
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 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 528316	NC_000021.8:g.(?_45629566)_(46330717_?)dup	AIRE, CFAP410 +26 more	Duplication	Polyglandular autoimmune syndrome, type 1	GUncertain significance
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

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