ClinVar for Gene (Select 56980) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309747	NM_199437.2(PRDM10):c.3241A>G (p.Thr1081Ala)	PRDM10 (T1063A +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309746	NM_199437.2(PRDM10):c.505G>C (p.Asp169His)	PRDM10 (D149H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3309745	NM_199437.2(PRDM10):c.3428C>A (p.Thr1143Asn)	PRDM10 (T1010N +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309744	NM_199437.2(PRDM10):c.218C>T (p.Pro73Leu)	PRDM10 (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309743	NM_199437.2(PRDM10):c.497G>A (p.Arg166Gln)	PRDM10 (R146Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3218339	NM_199437.2(PRDM10):c.946G>A (p.Glu316Lys)	PRDM10 (E316K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218338	NM_199437.2(PRDM10):c.795G>T (p.Arg265Ser)	PRDM10 (R243S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218337	NM_199437.2(PRDM10):c.3433G>A (p.Gly1145Arg)	PRDM10 (G1012R +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218336	NM_199437.2(PRDM10):c.2959G>C (p.Ala987Pro)	PRDM10 (A708P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218334	NM_199437.2(PRDM10):c.2882T>C (p.Val961Ala)	PRDM10 (V879A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218333	NM_199437.2(PRDM10):c.2565G>C (p.Glu855Asp)	PRDM10 (E835D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218332	NM_199437.2(PRDM10):c.2498C>T (p.Pro833Leu)	PRDM10 (P747L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218331	NM_199437.2(PRDM10):c.2228C>T (p.Ser743Leu)	PRDM10 (S657L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218329	NM_199437.2(PRDM10):c.2155G>A (p.Asp719Asn)	PRDM10 (D719N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218328	NM_199437.2(PRDM10):c.1784G>A (p.Arg595His)	PRDM10 (R513H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218327	NM_199437.2(PRDM10):c.1490C>T (p.Thr497Met)	PRDM10 (T497M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218326	NM_199437.2(PRDM10):c.1234A>G (p.Ile412Val)	PRDM10 (I129V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642544	NM_199437.2(PRDM10):c.3098A>C (p.Gln1033Pro)	PRDM10 (Q1013P +13 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2613376	NM_199437.2(PRDM10):c.1715A>G (p.Glu572Gly)	PRDM10 (E486G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602660	NM_199437.2(PRDM10):c.3277G>C (p.Val1093Leu)	PRDM10 (V1075L +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602626	NM_199437.2(PRDM10):c.3439G>A (p.Gly1147Arg)	PRDM10 (G1031R +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542626	NM_199437.2(PRDM10):c.1100C>G (p.Ser367Trp)	PRDM10 (S84W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532665	NM_199437.2(PRDM10):c.2773G>A (p.Val925Met)	PRDM10 (V646M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511253	NM_199437.2(PRDM10):c.144G>C (p.Gln48His)	PRDM10 (Q48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2484136	NM_199437.2(PRDM10):c.2801A>G (p.Gln934Arg)	PRDM10 (Q651R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386762	NM_199437.2(PRDM10):c.836C>T (p.Thr279Met)	PRDM10 (T193M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380855	NM_199437.2(PRDM10):c.505G>A (p.Asp169Asn)	PRDM10 (D83N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372548	NM_199437.2(PRDM10):c.496C>T (p.Arg166Trp)	PRDM10 (R146W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367351	NM_199437.2(PRDM10):c.2959G>A (p.Ala987Thr)	PRDM10 (A871T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359678	NM_199437.2(PRDM10):c.253G>A (p.Gly85Ser)	PRDM10 (G85S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338907	NM_199437.2(PRDM10):c.485C>T (p.Pro162Leu)	PRDM10 (P142L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336085	NM_199437.2(PRDM10):c.391G>C (p.Glu131Gln)	PRDM10 (E131Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324851	NM_199437.2(PRDM10):c.3286G>A (p.Glu1096Lys)	PRDM10 (E1076K +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316105	NM_199437.2(PRDM10):c.2657G>A (p.Gly886Glu)	PRDM10 (G868E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286603	NM_199437.2(PRDM10):c.2456C>T (p.Thr819Ile)	PRDM10 (T799I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278516	NM_199437.2(PRDM10):c.3178A>C (p.Met1060Leu)	PRDM10 (M1051L +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275490	NM_199437.2(PRDM10):c.731C>T (p.Ser244Leu)	PRDM10 (S158L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267954	NM_199437.2(PRDM10):c.3080T>C (p.Leu1027Pro)	PRDM10 (L1009P +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260254	NM_199437.2(PRDM10):c.424G>A (p.Glu142Lys)	PRDM10 (E142K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240329	NM_199437.2(PRDM10):c.3122A>G (p.His1041Arg)	PRDM10 (H758R +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236125	NM_199437.2(PRDM10):c.1648C>T (p.Arg550Trp)	PRDM10 (R267W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227251	NM_199437.2(PRDM10):c.2411G>A (p.Arg804Gln)	PRDM10 (R784Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223167	NM_199437.2(PRDM10):c.1238G>T (p.Arg413Leu)	PRDM10 (R327L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217390	NM_199437.2(PRDM10):c.1175G>A (p.Arg392Lys)	PRDM10 (R306K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208590	NM_199437.2(PRDM10):c.2105G>A (p.Arg702His)	PRDM10 (R620H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1707620	GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1	TP53AIP1, VPS26B +30 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1694653	GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	ACAD8, ADAMTS15 +28 more	Copy number loss	not provided	GPathogenic
Select item 1209928	NM_199437.2(PRDM10):c.2018G>A (p.Cys673Tyr)	PRDM10 (C390Y +8 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 979329	GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1	ETS1, GLB1L3 +30 more	Copy number loss	not provided	GPathogenic
Select item 979328	GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1	TP53AIP1, FLI1 +41 more	Copy number loss	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 806758	NM_199437.2(PRDM10):c.879C>A (p.His293Gln)	PRDM10 (H207Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787917	NM_199437.2(PRDM10):c.3040T>A (p.Ser1014Thr)	PRDM10 (S1014T +13 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776897	NM_199437.2(PRDM10):c.175A>T (p.Thr59Ser)	PRDM10 (T59S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776681	NM_199437.2(PRDM10):c.385A>G (p.Arg129Gly)	PRDM10 (R109G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 776680	NM_199437.2(PRDM10):c.705C>T (p.Pro235=)	PRDM10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776679	NM_199437.2(PRDM10):c.1419A>G (p.Glu473=)	PRDM10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774479	NM_199437.2(PRDM10):c.405A>G (p.Glu135=)	PRDM10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 718778	NM_199437.2(PRDM10):c.763-6G>A	PRDM10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 625594	GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	ACAD8, ACRV1 +51 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 625560	GRCh37/hg19 11q24.2-24.3(chr11:126809705-130289168)	ADAMTS8, APLP2 +15 more	Copy number loss	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 563879	GRCh37/hg19 11q24.3-25(chr11:129072293-134938470)x1	VPS26B, ACAD8 +23 more	Copy number loss	not provided	GPathogenic
Select item 563878	GRCh37/hg19 11q24.2-25(chr11:127690585-132404117)x1	ADAMTS15, KCNJ5 +18 more	Copy number loss	not provided	GPathogenic
Select item 548978	GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1	FOXRED1, ST3GAL4 +39 more	Copy number loss	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	CHEK1, CLMP +95 more	Copy number gain	See cases	GPathogenic
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442788	GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1	ACAD8, ADAMTS15 +32 more	Copy number loss	See cases	GPathogenic
Select item 442570	GRCh37/hg19 11q24.3-25(chr11:129721809-134938470)x1	ACAD8, ADAMTS15 +22 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 393778	GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	PATE2, PATE3 +104 more	Copy number loss	See cases	GPathogenic
Select item 253601	GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	ACAD8, ACRV1 +113 more	Copy number loss	See cases	GPathogenic
Select item 253565	GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1	NTM, NFRKB +32 more	Copy number loss	See cases	GPathogenic
Select item 253521	GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	CCDC15, CDON +108 more	Copy number loss	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic

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