16305[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	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 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	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
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	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 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 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 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 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 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 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 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 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 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 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 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	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 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 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 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	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 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	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 150923	GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	ADAMTS15, ADAMTS8 +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	LOC130007100, LOC130007101 +145 more	Copy number loss	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 2584761	NM_139055.4(ADAMTS15):c.123C>G (p.Tyr41Ter)	ADAMTS15 (Y41*)	Single nucleotide variant (nonsense)	Arthrogryposis, distal, type 12	GPathogenic
Select item 2351446	NM_139055.4(ADAMTS15):c.136G>A (p.Glu46Lys)	ADAMTS15 (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317298	NM_139055.4(ADAMTS15):c.143C>A (p.Ser48Tyr)	ADAMTS15 (S48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366771	NM_139055.4(ADAMTS15):c.178T>C (p.Phe60Leu)	ADAMTS15 (F60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147463	NM_139055.4(ADAMTS15):c.200A>G (p.His67Arg)	ADAMTS15 (H67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278172	NM_139055.4(ADAMTS15):c.244G>C (p.Glu82Gln)	ADAMTS15 (E82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607342	NM_139055.4(ADAMTS15):c.250C>G (p.Leu84Val)	ADAMTS15 (L84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618707	NM_139055.4(ADAMTS15):c.251T>A (p.Leu84Gln)	ADAMTS15 (L84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478319	NM_139055.4(ADAMTS15):c.334G>C (p.Asp112His)	ADAMTS15 (D112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622200	NM_139055.4(ADAMTS15):c.547G>A (p.Ala183Thr)	ADAMTS15 (A183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308367	NM_139055.4(ADAMTS15):c.571T>A (p.Tyr191Asn)	ADAMTS15 (Y191N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515088	NM_139055.4(ADAMTS15):c.647T>A (p.Ile216Asn)	ADAMTS15 (I216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619586	NM_139055.4(ADAMTS15):c.650C>G (p.Pro217Arg)	ADAMTS15 (P217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147540	NM_139055.4(ADAMTS15):c.653G>A (p.Arg218Gln)	ADAMTS15 (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786219	NM_139055.4(ADAMTS15):c.703G>A (p.Gly235Ser)	ADAMTS15 (G235S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2352613	NM_139055.4(ADAMTS15):c.769A>G (p.Ser257Gly)	ADAMTS15 (S257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516859	NM_139055.4(ADAMTS15):c.775C>T (p.Leu259Phe)	ADAMTS15 (L259F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366234	NM_139055.4(ADAMTS15):c.922G>A (p.Glu308Lys)	ADAMTS15 (E308K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155222	GRCh38/hg38 11q24.3-25(chr11:130457291-133168833)x3	ADAMTS15, LINC02551 +43 more	Copy number gain	See cases	GUncertain significance
Select item 2385127	NM_139055.4(ADAMTS15):c.958G>A (p.Asp320Asn)	ADAMTS15 (D320N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486068	NM_139055.4(ADAMTS15):c.1105A>G (p.Met369Val)	ADAMTS15 (M369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240222	NM_139055.4(ADAMTS15):c.1120G>A (p.Val374Met)	ADAMTS15 (V374M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147363	NM_139055.4(ADAMTS15):c.1175C>T (p.Pro392Leu)	ADAMTS15 (P392L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492656	NM_139055.4(ADAMTS15):c.1180C>G (p.Leu394Val)	ADAMTS15 (L394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550207	NM_139055.4(ADAMTS15):c.1192G>T (p.Asp398Tyr)	ADAMTS15 (D398Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558114	NM_139055.4(ADAMTS15):c.1213G>A (p.Ala405Thr)	ADAMTS15 (A405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147376	NM_139055.4(ADAMTS15):c.1360G>C (p.Val454Leu)	ADAMTS15 (V454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299077	NM_139055.4(ADAMTS15):c.1394G>A (p.Cys465Tyr)	ADAMTS15 (C465Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266831	NM_139055.4(ADAMTS15):c.1412C>T (p.Thr471Ile)	ADAMTS15 (T471I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375242	NM_139055.4(ADAMTS15):c.1448G>A (p.Arg483His)	ADAMTS15 (R483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266793	NM_139055.4(ADAMTS15):c.1474A>G (p.Ser492Gly)	ADAMTS15 (S492G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147394	NM_139055.4(ADAMTS15):c.1507G>A (p.Ala503Thr)	ADAMTS15 (A503T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516135	NM_139055.4(ADAMTS15):c.1513G>A (p.Val505Met)	ADAMTS15 (V505M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552071	NM_139055.4(ADAMTS15):c.1520G>A (p.Arg507Lys)	ADAMTS15 (R507K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147402	NM_139055.4(ADAMTS15):c.1561A>G (p.Lys521Glu)	ADAMTS15 (K521E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147407	NM_139055.4(ADAMTS15):c.1589G>A (p.Arg530His)	ADAMTS15 (R530H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642547	NM_139055.4(ADAMTS15):c.1606G>A (p.Val536Met)	ADAMTS15 (V536M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2603099	NM_139055.4(ADAMTS15):c.1634A>C (p.Asn545Thr)	ADAMTS15 (N545T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147414	NM_139055.4(ADAMTS15):c.1651G>A (p.Gly551Arg)	ADAMTS15 (G551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147422	NM_139055.4(ADAMTS15):c.1744G>A (p.Glu582Lys)	ADAMTS15 (E582K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320926	NM_139055.4(ADAMTS15):c.1769A>G (p.Tyr590Cys)	ADAMTS15 (Y590C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471891	NM_139055.4(ADAMTS15):c.1786C>T (p.Arg596Trp)	ADAMTS15 (R596W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258922	NM_139055.4(ADAMTS15):c.1825G>A (p.Gly609Ser)	ADAMTS15 (G609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584762	NM_139055.4(ADAMTS15):c.1903-2A>G	ADAMTS15	Single nucleotide variant (splice acceptor variant)	Arthrogryposis, distal, type 12	GPathogenic
Select item 2553132	NM_139055.4(ADAMTS15):c.1934C>T (p.Ser645Phe)	ADAMTS15 (S645F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603872	NM_139055.4(ADAMTS15):c.1937C>T (p.Thr646Ile)	ADAMTS15 (T646I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394699	NM_139055.4(ADAMTS15):c.1942G>A (p.Val648Ile)	ADAMTS15 (V648I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346575	NM_139055.4(ADAMTS15):c.1963A>C (p.Ile655Leu)	ADAMTS15 (I655L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399299	NM_139055.4(ADAMTS15):c.1970C>G (p.Ala657Gly)	ADAMTS15 (A657G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600329	NM_139055.4(ADAMTS15):c.1984A>C (p.Asn662His)	ADAMTS15 (N662H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507792	NM_139055.4(ADAMTS15):c.1991G>T (p.Gly664Val)	ADAMTS15 (G664V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147466	NM_139055.4(ADAMTS15):c.2026G>T (p.Gly676Trp)	ADAMTS15 (G676W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215252	NM_139055.4(ADAMTS15):c.2075C>G (p.Pro692Arg)	ADAMTS15 (P692R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304894	NM_139055.4(ADAMTS15):c.2111C>T (p.Ala704Val)	ADAMTS15 (A704V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787389	NM_139055.4(ADAMTS15):c.2160C>T (p.Ile720=)	ADAMTS15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2392132	NM_139055.4(ADAMTS15):c.2272C>T (p.Arg758Trp)	ADAMTS15 (R758W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708570	NM_139055.4(ADAMTS15):c.2280C>T (p.Ser760=)	ADAMTS15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2584763	NM_139055.4(ADAMTS15):c.2281G>A (p.Gly761Ser)	ADAMTS15 (G761S)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 12	GPathogenic
Select item 2244612	NM_139055.4(ADAMTS15):c.2285C>T (p.Thr762Met)	ADAMTS15 (T762M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147479	NM_139055.4(ADAMTS15):c.2309A>G (p.Gln770Arg)	ADAMTS15 (Q770R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397488	NM_139055.4(ADAMTS15):c.2317C>T (p.Arg773Trp)	ADAMTS15 (R773W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266841	NM_139055.4(ADAMTS15):c.2332C>A (p.Pro778Thr)	ADAMTS15 (P778T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266784	NM_139055.4(ADAMTS15):c.2341G>A (p.Val781Met)	ADAMTS15 (V781M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266801	NM_139055.4(ADAMTS15):c.2386T>C (p.Tyr796His)	ADAMTS15 (Y796H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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