ClinVar for Gene (Select 386677) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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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