ClinVar for Gene (Select 29068) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3192106	NM_001301098.2(ZBTB44):c.899A>G (p.His300Arg)	ZBTB44 (H300R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192105	NM_001301098.2(ZBTB44):c.871G>A (p.Val291Ile)	ZBTB44 (V291I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192104	NM_001301098.2(ZBTB44):c.684T>G (p.Phe228Leu)	ZBTB44 (F228L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192103	NM_001301098.2(ZBTB44):c.608G>T (p.Ser203Ile)	ZBTB44 (S203I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192102	NM_001301098.2(ZBTB44):c.569T>G (p.Met190Arg)	ZBTB44 (M190R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192101	NM_001301098.2(ZBTB44):c.520A>G (p.Ile174Val)	ZBTB44 (I174V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192100	NM_001301098.2(ZBTB44):c.469G>A (p.Asp157Asn)	ZBTB44 (D157N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192099	NM_001301098.2(ZBTB44):c.455A>G (p.Asn152Ser)	ZBTB44 (N152S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192098	NM_001301098.2(ZBTB44):c.1229G>A (p.Arg410His)	ZBTB44 (R392H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192097	NM_001301098.2(ZBTB44):c.1186G>A (p.Asp396Asn)	ZBTB44 (D396N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192096	NM_001301098.2(ZBTB44):c.1118A>G (p.Gln373Arg)	ZBTB44 (Q373R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3192095	NM_001301098.2(ZBTB44):c.1118A>C (p.Gln373Pro)	ZBTB44 (Q373P)	Single nucleotide variant (missense variant +3 more)	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 3063223	GRCh37/hg19 11q24.3(chr11:129963003-130520740)x3	ADAMTS15, ADAMTS8 +3 more	Copy number gain	not specified	GUncertain significance
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 2610369	NM_001301098.2(ZBTB44):c.962C>T (p.Pro321Leu)	ZBTB44 (P321L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570200	NM_001301098.2(ZBTB44):c.498G>C (p.Glu166Asp)	ZBTB44 (E166D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553471	NM_001301098.2(ZBTB44):c.1004A>T (p.Gln335Leu)	ZBTB44 (Q335L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528325	NM_001301098.2(ZBTB44):c.808G>C (p.Val270Leu)	ZBTB44 (V270L)	Single nucleotide variant (missense variant +2 more)	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 2469425	NM_001301098.2(ZBTB44):c.1120T>C (p.Tyr374His)	ZBTB44 (Y374H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2386461	NM_001301098.2(ZBTB44):c.748A>G (p.Asn250Asp)	ZBTB44 (N250D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376353	NM_001301098.2(ZBTB44):c.526G>C (p.Val176Leu)	ZBTB44 (V176L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355631	NM_001301098.2(ZBTB44):c.806A>T (p.Tyr269Phe)	ZBTB44 (Y269F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355299	NM_001301098.2(ZBTB44):c.903G>T (p.Glu301Asp)	ZBTB44 (E301D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322536	NM_001301098.2(ZBTB44):c.418G>C (p.Gly140Arg)	ZBTB44 (G140R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264284	NM_001301098.2(ZBTB44):c.757A>G (p.Thr253Ala)	ZBTB44 (T253A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207137	NM_001301098.2(ZBTB44):c.787G>T (p.Gly263Cys)	ZBTB44 (G263C)	Single nucleotide variant (missense variant +2 more)	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	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703539	GRCh37/hg19 11q24.3-25(chr11:130173156-134938470)	ACAD8, ADAMTS15 +17 more	Copy number gain	Seizure	GLikely pathogenic
Select item 1694653	GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	ACAD8, ADAMTS15 +28 more	Copy number loss	not provided	GPathogenic
Select item 979331	GRCh37/hg19 11q24.3-25(chr11:130128323-134938470)x1	NTM, IGSF9B +17 more	Copy number loss	not provided	GLikely pathogenic
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	AASDHPPT, ABCG4 +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	ABCG4, ACRV1 +169 more	Deletion	Neurodevelopmental delay +7 more	GLikely pathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +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)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +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	LOC130007028, LOC130007029 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	MSANTD2, NCAPD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 394100	GRCh37/hg19 11q24.3(chr11:130059954-130108459)x3	ST14, ZBTB44	Copy number gain	See cases	GLikely benign
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
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 150923	GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	ADAMTS15, ADAMTS8 +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58950	GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1	ACAD8, ADAMTS15 +123 more	Copy number loss	See cases	GPathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	LOC130007100, LOC130007101 +145 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic

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