ClinVar for Gene (Select 386672) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289624	NM_198687.2(KRTAP10-4):c.395A>C (p.Asp132Ala)	KRTAP10-4, TSPEAR (D132A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3289623	NM_198687.2(KRTAP10-4):c.269G>T (p.Cys90Phe)	KRTAP10-4, TSPEAR (C90F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289622	NM_198687.2(KRTAP10-4):c.886C>A (p.Leu296Met)	KRTAP10-4, TSPEAR (L296M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289621	NM_198687.2(KRTAP10-4):c.728G>A (p.Cys243Tyr)	KRTAP10-4, TSPEAR (C243Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289620	NM_198687.2(KRTAP10-4):c.1081G>C (p.Val361Leu)	KRTAP10-4, TSPEAR (V361L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289619	NM_198687.2(KRTAP10-4):c.468T>G (p.Cys156Trp)	KRTAP10-4, TSPEAR (C156W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250692	NM_198687.2(KRTAP10-4):c.300T>C (p.Cys100=)	KRTAP10-4, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	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 3116869	NM_198687.2(KRTAP10-4):c.955G>A (p.Val319Met)	KRTAP10-4, TSPEAR (V319M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116868	NM_198687.2(KRTAP10-4):c.946G>A (p.Gly316Ser)	KRTAP10-4, TSPEAR (G316S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116867	NM_198687.2(KRTAP10-4):c.884C>G (p.Ser295Cys)	KRTAP10-4, TSPEAR (S295C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116865	NM_198687.2(KRTAP10-4):c.467G>A (p.Cys156Tyr)	KRTAP10-4, TSPEAR (C156Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116864	NM_198687.2(KRTAP10-4):c.335C>A (p.Pro112His)	KRTAP10-4, TSPEAR (P112H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116863	NM_198687.2(KRTAP10-4):c.301G>A (p.Ala101Thr)	KRTAP10-4, TSPEAR (A101T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3116862	NM_198687.2(KRTAP10-4):c.197C>T (p.Pro66Leu)	KRTAP10-4, TSPEAR (P66L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116861	NM_198687.2(KRTAP10-4):c.119C>A (p.Pro40His)	KRTAP10-4, TSPEAR (P40H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116860	NM_198687.2(KRTAP10-4):c.1123G>A (p.Val375Met)	KRTAP10-4, TSPEAR (V375M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116859	NM_198687.2(KRTAP10-4):c.1102G>A (p.Val368Met)	KRTAP10-4, TSPEAR (V368M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116857	NM_198687.2(KRTAP10-4):c.1081G>A (p.Val361Met)	KRTAP10-4, TSPEAR (V361M)	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 2652766	NM_198687.2(KRTAP10-4):c.1146T>C (p.Ala382=)	KRTAP10-4, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652765	NM_198687.2(KRTAP10-4):c.615G>A (p.Thr205=)	KRTAP10-4, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652764	NM_198687.2(KRTAP10-4):c.573T>C (p.Cys191=)	KRTAP10-4, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652763	NM_198687.2(KRTAP10-4):c.189G>A (p.Val63=)	KRTAP10-4, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614726	NM_198687.2(KRTAP10-4):c.1118G>A (p.Cys373Tyr)	KRTAP10-4, TSPEAR (C373Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594076	NM_198687.2(KRTAP10-4):c.46C>T (p.Leu16Phe)	KRTAP10-4, TSPEAR (L16F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592359	NM_198687.2(KRTAP10-4):c.310C>T (p.Pro104Ser)	KRTAP10-4, TSPEAR (P104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546008	NM_198687.2(KRTAP10-4):c.1100C>T (p.Pro367Leu)	KRTAP10-4, TSPEAR (P367L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530577	NM_198687.2(KRTAP10-4):c.1024C>A (p.Gln342Lys)	KRTAP10-4, TSPEAR (Q342K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517163	NM_198687.2(KRTAP10-4):c.620C>T (p.Ser207Leu)	KRTAP10-4, TSPEAR (S207L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477190	NM_198687.2(KRTAP10-4):c.58T>C (p.Cys20Arg)	KRTAP10-4, TSPEAR (C20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455557	NM_198687.2(KRTAP10-4):c.512C>T (p.Ser171Leu)	KRTAP10-4, TSPEAR (S171L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2398497	NM_198687.2(KRTAP10-4):c.568G>A (p.Val190Ile)	KRTAP10-4, TSPEAR (V190I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381295	NM_198687.2(KRTAP10-4):c.1192G>A (p.Val398Met)	KRTAP10-4, TSPEAR (V398M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374772	NM_198687.2(KRTAP10-4):c.155G>C (p.Cys52Ser)	KRTAP10-4, TSPEAR (C52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370705	NM_198687.2(KRTAP10-4):c.1114G>A (p.Ala372Thr)	KRTAP10-4, TSPEAR (A372T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366698	NM_198687.2(KRTAP10-4):c.38G>A (p.Arg13His)	KRTAP10-4, TSPEAR (R13H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364252	NM_198687.2(KRTAP10-4):c.643C>A (p.Gln215Lys)	KRTAP10-4, TSPEAR (Q215K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363882	NM_198687.2(KRTAP10-4):c.142G>A (p.Ala48Thr)	TSPEAR, KRTAP10-4 (A48T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363835	NM_198687.2(KRTAP10-4):c.331G>A (p.Val111Met)	KRTAP10-4, TSPEAR (V111M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352184	NM_198687.2(KRTAP10-4):c.290T>C (p.Leu97Pro)	KRTAP10-4, TSPEAR (L97P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2323365	NM_198687.2(KRTAP10-4):c.730T>C (p.Ser244Pro)	KRTAP10-4, TSPEAR (S244P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280255	NM_198687.2(KRTAP10-4):c.1052C>T (p.Thr351Ile)	KRTAP10-4, TSPEAR (T351I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275280	NM_198687.2(KRTAP10-4):c.601A>T (p.Ile201Phe)	KRTAP10-4, TSPEAR (I201F)	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 1695031	NM_198687.2(KRTAP10-4):c.330C>T (p.Cys110=)	KRTAP10-4, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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

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