ClinVar for Gene (Select 23076) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685670	GRCh37/hg19 21q22.3(chr21:45087062-45164936)x1	PDXK, RRP1B	Copy number loss	not provided	GUncertain significance
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 2684921	GRCh37/hg19 21q22.3(chr21:44968648-45268475)x3	CSTB, HSF2BP +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684920	GRCh37/hg19 21q22.3(chr21:44925905-45717716)x3	AGPAT3, AIRE +10 more	Copy number gain	not provided	GUncertain significance
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 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652723	NM_015056.3(RRP1B):c.266C>T (p.Ala89Val)	RRP1B (A89V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598487	NM_015056.3(RRP1B):c.692C>T (p.Thr231Met)	RRP1B (T231M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519782	NM_015056.3(RRP1B):c.842G>A (p.Arg281Lys)	RRP1B (R281K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514558	NM_015056.3(RRP1B):c.1994C>T (p.Thr665Ile)	RRP1B (T665I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511135	NM_015056.3(RRP1B):c.1550G>A (p.Gly517Glu)	RRP1B (G517E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460952	NM_015056.3(RRP1B):c.86A>G (p.Lys29Arg)	LOC130066780, RRP1B (K29R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2410063	NM_015056.3(RRP1B):c.1420C>T (p.Arg474Trp)	RRP1B (R474W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395391	NM_015056.3(RRP1B):c.1693C>A (p.Pro565Thr)	RRP1B (P565T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388758	NM_015056.3(RRP1B):c.1573C>T (p.Arg525Trp)	RRP1B (R525W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384727	NM_015056.3(RRP1B):c.1951C>G (p.Pro651Ala)	RRP1B (P651A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365953	NM_015056.3(RRP1B):c.772A>G (p.Arg258Gly)	RRP1B (R258G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354875	NM_015056.3(RRP1B):c.1843G>A (p.Glu615Lys)	LOC130066783, RRP1B (E615K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352320	NM_015056.3(RRP1B):c.1216A>C (p.Lys406Gln)	RRP1B (K406Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348012	NM_015056.3(RRP1B):c.2011G>T (p.Ala671Ser)	RRP1B (A671S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329125	NM_015056.3(RRP1B):c.748C>A (p.Pro250Thr)	RRP1B (P250T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327146	NM_015056.3(RRP1B):c.1549G>A (p.Gly517Arg)	RRP1B (G517R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322182	NM_015056.3(RRP1B):c.997G>A (p.Asp333Asn)	RRP1B (D333N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319475	NM_015056.3(RRP1B):c.997G>T (p.Asp333Tyr)	RRP1B (D333Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314984	NM_015056.3(RRP1B):c.1426C>T (p.Arg476Trp)	RRP1B (R476W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310279	NM_015056.3(RRP1B):c.641G>A (p.Arg214Gln)	RRP1B (R214Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278747	NM_015056.3(RRP1B):c.2193C>G (p.Ser731Arg)	RRP1B (S731R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273080	NM_015056.3(RRP1B):c.1918A>G (p.Ser640Gly)	RRP1B (S640G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268304	NM_015056.3(RRP1B):c.400C>G (p.Arg134Gly)	RRP1B (R134G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248732	NM_015056.3(RRP1B):c.1480C>G (p.Pro494Ala)	RRP1B (P494A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221681	NM_015056.3(RRP1B):c.1065C>A (p.Asp355Glu)	RRP1B (D355E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215397	NM_015056.3(RRP1B):c.142C>G (p.Gln48Glu)	RRP1B (Q48E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214312	NM_015056.3(RRP1B):c.2029A>G (p.Thr677Ala)	RRP1B (T677A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209090	NM_015056.3(RRP1B):c.985A>C (p.Lys329Gln)	RRP1B (K329Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206339	NM_015056.3(RRP1B):c.2146G>A (p.Asp716Asn)	RRP1B (D716N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 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 1526723	GRCh37/hg19 21q22.3(chr21:45071606-45703897)	AGPAT3, CSTB +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526722	GRCh37/hg19 21q22.3(chr21:44850469-45257348)	CSTB, HSF2BP +3 more	Copy number loss	not specified	GUncertain significance
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
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	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 1176766	NM_015056.3(RRP1B):c.2123C>T (p.Thr708Met)	RRP1B (T708M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176765	NM_015056.3(RRP1B):c.1557A>G (p.Gln519=)	RRP1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1055976	NC_000021.8:g.(?_44838130)_(45196150_?)dup	CSTB, HSF2BP +3 more	Duplication	Developmental and epileptic encephalopathy, 30 +1 more	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 832239	NC_000021.8:g.(?_44838120)_(45629566_?)dup	AGPAT3, CSTB +8 more	Duplication	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	AGPAT3, AIRE +47 more	Duplication	not provided	GUncertain significance
Select item 830406	NC_000021.8:g.(?_44838120)_(45629566_?)del	PWP2, AGPAT3 +8 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 830405	NC_000021.8:g.(?_44836602)_(45629566_?)del	RRP1B, SIK1 +8 more	Deletion	Developmental and epileptic encephalopathy, 30	GPathogenic
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 816177	GRCh37/hg19 21q22.3(chr21:44847202-45265689)x1	RRP1B, RRP1 +3 more	Copy number loss	not provided	GLikely benign
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 791215	NM_015056.3(RRP1B):c.246C>T (p.Val82=)	RRP1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773093	NM_015056.3(RRP1B):c.1892T>C (p.Leu631Pro)	RRP1B (L631P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773092	NM_015056.3(RRP1B):c.358-8T>A	RRP1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688553	GRCh37/hg19 21q22.3(chr21:44735958-45448138)x3	AGPAT3, CSTB +6 more	Copy number gain	not provided	GUncertain significance
Select item 688323	GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1	AGPAT3, AIRE +47 more	Copy number loss	not provided	GPathogenic
Select item 688005	GRCh37/hg19 21q22.3(chr21:44577746-45120173)x3	CRYAA, HSF2BP +2 more	Copy number gain	not provided	GUncertain significance
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	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 647965	NC_000021.8:g.(?_43892908)_(45629566_?)del	HSF2BP, NDUFV3 +17 more	Deletion	Primary ciliary dyskinesia	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	AATBC, ADARB1 +245 more	Duplication	Autism	GLikely pathogenic
Select item 454509	NC_000021.8:g.(?_43892908)_(45629566_?)dup	NDUFV3, PDE9A +17 more	Duplication	Primary ciliary dyskinesia	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	DSCAM, FAM3B +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	SPATC1L, SUMO3 +217 more	Copy number gain	See cases	GPathogenic
Select item 253975	GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1	RRP1B, LRRC3 +22 more	Copy number loss	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic

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