KRTAP10-3[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	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC126653326, LOC126653327 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066833, LOC130066834 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	CBR1-AS1, CBR3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066700, LOC130066701 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066665, LOC130066666 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653316, LOC126653317 +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	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066436, LOC130066437 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +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	KRTAP13-3, KRTAP13-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, MIR6814 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066541, LOC130066542 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066593, LOC130066594 +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	LOC130066830, LOC130066831 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LOC130066733, LOC130066734 +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	AATBC, ABCG1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	LOC130066879, LOC130066880 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AGPAT3, AIRE +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	LOC130066848, LOC130066849 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	LOC108254685, LOC108281139 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	AATBC, ABCG1 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	LOC130066823, LOC130066824 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	AATBC, ABCG1 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066810, LOC130066811 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	LOC130066817, LOC130066818 +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	AATBC, ADARB1 +245 more	Duplication	Autism	GLikely pathogenic
Select item 148857	GRCh38/hg38 21q22.3(chr21:44502542-44720113)x1	KRTAP10-1, KRTAP10-10 +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 2510776	NM_198696.3(KRTAP10-3):c.616C>T (p.Leu206Phe)	KRTAP10-3, TSPEAR (L206F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595371	NM_198696.3(KRTAP10-3):c.605C>T (p.Thr202Met)	KRTAP10-3, TSPEAR (T202M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1301811	NM_144991.3(TSPEAR):c.303+9641C>A	KRTAP10-3, TSPEAR (P191Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 98	GLikely benign
Select item 2346113	NM_198696.3(KRTAP10-3):c.571C>A (p.Pro191Thr)	KRTAP10-3, TSPEAR (P191T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596499	NM_198696.3(KRTAP10-3):c.569G>A (p.Arg190His)	KRTAP10-3, TSPEAR (R190H)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591857	NM_198696.3(KRTAP10-3):c.556C>G (p.Pro186Ala)	KRTAP10-3, TSPEAR (P186A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570292	NM_198696.3(KRTAP10-3):c.547A>T (p.Thr183Ser)	KRTAP10-3, TSPEAR (T183S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2509477	NM_198696.3(KRTAP10-3):c.541G>A (p.Ala181Thr)	KRTAP10-3, TSPEAR (A181T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2652761	NM_198696.3(KRTAP10-3):c.540T>C (p.Pro180=)	KRTAP10-3, TSPEAR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2380193	NM_198696.3(KRTAP10-3):c.502T>C (p.Ser168Pro)	KRTAP10-3, TSPEAR (S168P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2570137	NM_198696.3(KRTAP10-3):c.493G>A (p.Val165Met)	KRTAP10-3, TSPEAR (V165M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533276	NM_198696.3(KRTAP10-3):c.488G>A (p.Arg163His)	KRTAP10-3, TSPEAR (R163H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247751	NM_198696.3(KRTAP10-3):c.454T>G (p.Cys152Gly)	TSPEAR, KRTAP10-3 (C152G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351794	NM_198696.3(KRTAP10-3):c.440G>A (p.Cys147Tyr)	KRTAP10-3, TSPEAR (C147Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347015	NM_198696.3(KRTAP10-3):c.419C>G (p.Ser140Cys)	TSPEAR, KRTAP10-3 (S140C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458667	NM_198696.3(KRTAP10-3):c.389C>G (p.Ser130Cys)	KRTAP10-3, TSPEAR (S130C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2394750	NM_198696.3(KRTAP10-3):c.382G>A (p.Val128Ile)	TSPEAR, KRTAP10-3 (V128I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288076	NM_198696.3(KRTAP10-3):c.335C>G (p.Pro112Arg)	TSPEAR, KRTAP10-3 (P112R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535856	NM_198696.3(KRTAP10-3):c.317A>T (p.Lys106Met)	KRTAP10-3, TSPEAR (K106M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535855	NM_198696.3(KRTAP10-3):c.316A>G (p.Lys106Glu)	KRTAP10-3, TSPEAR (K106E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292658	NM_198696.3(KRTAP10-3):c.274T>C (p.Ser92Pro)	TSPEAR, KRTAP10-3 (S92P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606158	NM_198696.3(KRTAP10-3):c.266G>A (p.Cys89Tyr)	KRTAP10-3, TSPEAR (C89Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221097	NM_198696.3(KRTAP10-3):c.209G>A (p.Gly70Asp)	TSPEAR, KRTAP10-3 (G70D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558949	NM_198696.3(KRTAP10-3):c.125G>C (p.Cys42Ser)	KRTAP10-3, TSPEAR (C42S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462603	NM_198696.3(KRTAP10-3):c.91T>C (p.Cys31Arg)	TSPEAR, KRTAP10-3 (C31R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382887	NM_198696.3(KRTAP10-3):c.86C>T (p.Pro29Leu)	KRTAP10-3, TSPEAR (P29L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226288	NM_198696.3(KRTAP10-3):c.28T>C (p.Ser10Pro)	TSPEAR, KRTAP10-3 (S10P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569130	NM_198696.3(KRTAP10-3):c.25T>C (p.Cys9Arg)	KRTAP10-3, TSPEAR (C9R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471456	NM_198696.3(KRTAP10-3):c.16A>G (p.Met6Val)	KRTAP10-3, TSPEAR (M6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 221312	NM_144991.3(TSPEAR):c.303+9076A>G	KRTAP10-3, TSPEAR (T3A)	Single nucleotide variant (missense variant +1 more)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	GBenign
Select item 2283571	NM_198696.3(KRTAP10-3):c.4G>A (p.Ala2Thr)	KRTAP10-3, TSPEAR (A2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	COL6A1, COL6A2 +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	CBS, ITGB2 +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	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 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)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	AGPAT3, 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	KRTAP10-2, SIK1 +74 more	Duplication	Developmental and epileptic encephalopathy, 30 +2 more	GUncertain significance

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