KRTAP10-10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 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 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	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 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	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 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 148857	GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1	LOC130066830, TSPEAR +20 more	Copy number loss	See cases	GUncertain significance
Select item 154064	GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1	ADARB1, BNAT1 +69 more	Copy number loss	See cases	GUncertain significance
Select item 150020	GRCh38/hg38 21q22.3(chr21:44576109-45204790)x3	LOC125418085, LOC126653399 +50 more	Copy number gain	See cases	GUncertain significance
Select item 3289604	NM_181688.3(KRTAP10-10):c.14C>A (p.Thr5Asn)	KRTAP10-10, TSPEAR (T5N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607839	NM_181688.3(KRTAP10-10):c.23T>C (p.Ile8Thr)	KRTAP10-10, TSPEAR (I8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490386	NM_181688.3(KRTAP10-10):c.67C>T (p.Pro23Ser)	KRTAP10-10, TSPEAR (P23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480089	NM_181688.3(KRTAP10-10):c.91T>G (p.Cys31Gly)	KRTAP10-10, TSPEAR (C31G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289605	NM_181688.3(KRTAP10-10):c.157T>A (p.Cys53Ser)	KRTAP10-10, TSPEAR (C53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220886	NM_181688.3(KRTAP10-10):c.162G>T (p.Gln54His)	KRTAP10-10, TSPEAR (Q54H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289602	NM_181688.3(KRTAP10-10):c.167C>T (p.Ala56Val)	KRTAP10-10, TSPEAR (A56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225255	NM_181688.3(KRTAP10-10):c.220T>C (p.Cys74Arg)	KRTAP10-10, TSPEAR (C74R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289606	NM_181688.3(KRTAP10-10):c.242A>G (p.Gln81Arg)	KRTAP10-10, TSPEAR (Q81R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 377201	NM_181688.3(KRTAP10-10):c.248A>C (p.Asp83Ala)	KRTAP10-10, TSPEAR (D83A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 403022	NM_181688.3(KRTAP10-10):c.300T>C (p.Cys100=)	KRTAP10-10, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 377117	NM_181688.3(KRTAP10-10):c.302T>A (p.Val101Glu)	TSPEAR, KRTAP10-10 (V101E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3289603	NM_181688.3(KRTAP10-10):c.353C>G (p.Thr118Ser)	KRTAP10-10, TSPEAR (T118S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344808	NM_181688.3(KRTAP10-10):c.520T>C (p.Cys174Arg)	KRTAP10-10, TSPEAR (C174R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558953	NM_181688.3(KRTAP10-10):c.539C>T (p.Thr180Ile)	KRTAP10-10, TSPEAR (T180I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373829	NM_181688.3(KRTAP10-10):c.568G>A (p.Val190Met)	KRTAP10-10, TSPEAR (V190M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289600	NM_181688.3(KRTAP10-10):c.581G>A (p.Cys194Tyr)	KRTAP10-10, TSPEAR (C194Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289601	NM_181688.3(KRTAP10-10):c.604T>G (p.Cys202Gly)	KRTAP10-10, TSPEAR (C202G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354721	NM_181688.3(KRTAP10-10):c.605G>A (p.Cys202Tyr)	KRTAP10-10, TSPEAR (C202Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116814	NM_181688.3(KRTAP10-10):c.628G>T (p.Gly210Cys)	KRTAP10-10, TSPEAR (G210C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2252354	NM_181688.3(KRTAP10-10):c.628G>A (p.Gly210Ser)	KRTAP10-10, TSPEAR (G210S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546866	NM_181688.3(KRTAP10-10):c.634T>C (p.Ser212Pro)	KRTAP10-10, TSPEAR (S212P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2356508	NM_181688.3(KRTAP10-10):c.665G>A (p.Arg222His)	KRTAP10-10, TSPEAR (R222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369268	NM_181688.3(KRTAP10-10):c.668C>T (p.Thr223Met)	KRTAP10-10, TSPEAR (T223M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325797	NM_181688.3(KRTAP10-10):c.695G>A (p.Arg232His)	KRTAP10-10, TSPEAR (R232H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 377299	NM_181688.3(KRTAP10-10):c.710G>A (p.Arg237His)	KRTAP10-10, TSPEAR (R237H)	Single nucleotide variant (missense 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 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 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
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

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