KRTAP10-1[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 2454655	NM_198691.3(KRTAP10-1):c.842C>A (p.Ala281Asp)	KRTAP10-1, TSPEAR (A281D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1695029	NM_198691.3(KRTAP10-1):c.837C>T (p.Arg279=)	KRTAP10-1, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3116812	NM_198691.3(KRTAP10-1):c.829T>A (p.Cys277Ser)	KRTAP10-1, TSPEAR (C277S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517977	NM_198691.3(KRTAP10-1):c.826G>A (p.Ala276Thr)	KRTAP10-1, TSPEAR (A276T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3116811	NM_198691.3(KRTAP10-1):c.821G>A (p.Arg274His)	KRTAP10-1, TSPEAR (R274H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394391	NM_198691.3(KRTAP10-1):c.820C>T (p.Arg274Cys)	KRTAP10-1, TSPEAR (R274C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280934	NM_198691.3(KRTAP10-1):c.818G>C (p.Cys273Ser)	KRTAP10-1, TSPEAR (C273S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652759	NM_198691.3(KRTAP10-1):c.778G>C (p.Ala260Pro)	KRTAP10-1, TSPEAR (A260P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1033115	NM_144991.3(TSPEAR):c.304-5450G>T	KRTAP10-1, TSPEAR (A260S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 98	GUncertain significance
Select item 2458666	NM_198691.3(KRTAP10-1):c.769T>A (p.Ser257Thr)	KRTAP10-1, TSPEAR (S257T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237503	NM_198691.3(KRTAP10-1):c.763G>A (p.Ala255Thr)	KRTAP10-1, TSPEAR (A255T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2246132	NM_198691.3(KRTAP10-1):c.758C>A (p.Ala253Asp)	KRTAP10-1, TSPEAR (A253D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025016	NM_198691.3(KRTAP10-1):c.754T>C (p.Cys252Arg)	KRTAP10-1, TSPEAR (C252R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2607231	NM_198691.3(KRTAP10-1):c.743T>A (p.Val248Asp)	KRTAP10-1, TSPEAR (V248D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289599	NM_198691.3(KRTAP10-1):c.737T>A (p.Met246Lys)	KRTAP10-1, TSPEAR (M246K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116810	NM_198691.3(KRTAP10-1):c.734G>A (p.Cys245Tyr)	KRTAP10-1, TSPEAR (C245Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116809	NM_198691.3(KRTAP10-1):c.704T>C (p.Leu235Pro)	KRTAP10-1, TSPEAR (L235P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116808	NM_198691.3(KRTAP10-1):c.685T>C (p.Ser229Pro)	KRTAP10-1, TSPEAR (S229P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351139	NM_198691.3(KRTAP10-1):c.643A>G (p.Ser215Gly)	KRTAP10-1, TSPEAR (S215G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349034	NM_198691.3(KRTAP10-1):c.613G>A (p.Gly205Arg)	KRTAP10-1, TSPEAR (G205R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289596	NM_198691.3(KRTAP10-1):c.604G>A (p.Val202Ile)	KRTAP10-1, TSPEAR (V202I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558678	NM_198691.3(KRTAP10-1):c.574G>A (p.Val192Ile)	KRTAP10-1, TSPEAR (V192I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381616	NM_198691.3(KRTAP10-1):c.551G>A (p.Cys184Tyr)	KRTAP10-1, TSPEAR (C184Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2381615	NM_198691.3(KRTAP10-1):c.544G>T (p.Ala182Ser)	KRTAP10-1, TSPEAR (A182S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206780	NM_198691.3(KRTAP10-1):c.521G>A (p.Cys174Tyr)	KRTAP10-1, TSPEAR (C174Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289598	NM_198691.3(KRTAP10-1):c.515C>T (p.Ala172Val)	KRTAP10-1, TSPEAR (A172V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289594	NM_198691.3(KRTAP10-1):c.510T>G (p.His170Gln)	KRTAP10-1, TSPEAR (H170Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2687868	NM_144991.3(TSPEAR):c.304-5751T>A	KRTAP10-1, TSPEAR (D159E)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GBenign
Select item 2687866	NM_144991.3(TSPEAR):c.304-5753G>T	KRTAP10-1, TSPEAR (D159Y)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GBenign
Select item 3116807	NM_198691.3(KRTAP10-1):c.448G>T (p.Val150Leu)	KRTAP10-1, TSPEAR (V150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251015	NM_198691.3(KRTAP10-1):c.412C>A (p.Gln138Lys)	KRTAP10-1, TSPEAR (Q138K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116806	NM_198691.3(KRTAP10-1):c.385C>T (p.Pro129Ser)	KRTAP10-1, TSPEAR (P129S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116805	NM_198691.3(KRTAP10-1):c.290A>G (p.Gln97Arg)	KRTAP10-1, TSPEAR (Q97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116804	NM_198691.3(KRTAP10-1):c.272C>T (p.Thr91Ile)	KRTAP10-1, TSPEAR (T91I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528679	NM_198691.3(KRTAP10-1):c.271A>G (p.Thr91Ala)	KRTAP10-1, TSPEAR (T91A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116803	NM_198691.3(KRTAP10-1):c.260C>T (p.Pro87Leu)	KRTAP10-1, TSPEAR (P87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211494	NM_198691.3(KRTAP10-1):c.233C>T (p.Ser78Leu)	KRTAP10-1, TSPEAR (S78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289595	NM_198691.3(KRTAP10-1):c.181G>A (p.Ala61Thr)	KRTAP10-1, TSPEAR (A61T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116802	NM_198691.3(KRTAP10-1):c.155G>A (p.Arg52His)	KRTAP10-1, TSPEAR (R52H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466511	NM_198691.3(KRTAP10-1):c.131C>G (p.Thr44Ser)	KRTAP10-1, TSPEAR (T44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289597	NM_198691.3(KRTAP10-1):c.100C>A (p.Leu34Ile)	KRTAP10-1, TSPEAR (L34I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116813	NM_198691.3(KRTAP10-1):c.97G>A (p.Ala33Thr)	KRTAP10-1, TSPEAR (A33T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652760	NM_144991.3(TSPEAR):c.304-6166C>A	KRTAP10-1, TSPEAR (A21D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2484529	NM_198691.3(KRTAP10-1):c.55G>C (p.Val19Leu)	KRTAP10-1, TSPEAR (V19L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 376948	NM_198691.3(KRTAP10-1):c.22G>A (p.Val8Ile)	KRTAP10-1, TSPEAR (V8I)	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

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