ClinVar for Gene (Select 9666) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086729	NM_014648.4(DZIP3):c.812A>G (p.Tyr271Cys)	DZIP3 (Y271C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086728	NM_014648.4(DZIP3):c.766G>C (p.Asp256His)	DZIP3 (D256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086727	NM_014648.4(DZIP3):c.764T>G (p.Leu255Arg)	DZIP3 (L255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086726	NM_014648.4(DZIP3):c.56G>A (p.Arg19Lys)	DZIP3 (R19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086725	NM_014648.4(DZIP3):c.554G>A (p.Arg185His)	DZIP3 (R185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086724	NM_014648.4(DZIP3):c.47A>G (p.Glu16Gly)	DZIP3 (E16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086723	NM_014648.4(DZIP3):c.3374C>T (p.Thr1125Ile)	DZIP3 (T1125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086722	NM_014648.4(DZIP3):c.3187G>A (p.Ala1063Thr)	DZIP3 (A1063T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086721	NM_014648.4(DZIP3):c.277A>G (p.Ser93Gly)	DZIP3 (S93G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086720	NM_014648.4(DZIP3):c.2656C>G (p.Leu886Val)	DZIP3 (L886V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086719	NM_014648.4(DZIP3):c.2603A>G (p.Gln868Arg)	DZIP3 (Q868R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086717	NM_014648.4(DZIP3):c.2291G>A (p.Cys764Tyr)	DZIP3 (C764Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086716	NM_014648.4(DZIP3):c.2231G>T (p.Gly744Val)	DZIP3 (G744V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086715	NM_014648.4(DZIP3):c.1529A>G (p.Asp510Gly)	DZIP3 (D510G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086714	NM_014648.4(DZIP3):c.1259T>C (p.Leu420Pro)	DZIP3 (L420P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086713	NM_014648.4(DZIP3):c.1234T>G (p.Phe412Val)	DZIP3 (F412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086712	NM_014648.4(DZIP3):c.1226G>A (p.Arg409Gln)	DZIP3 (R409Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086711	NM_014648.4(DZIP3):c.1213A>G (p.Thr405Ala)	DZIP3 (T405A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086710	NM_014648.4(DZIP3):c.1021G>C (p.Val341Leu)	DZIP3 (V341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685089	GRCh37/hg19 3q13.12-13.13(chr3:106530324-108811014)x1	BBX, CCDC54 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2621117	NM_014648.4(DZIP3):c.1788T>G (p.Ser596Arg)	DZIP3 (S596R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617162	NM_014648.4(DZIP3):c.2106A>G (p.Ile702Met)	DZIP3 (I702M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610801	NM_014648.4(DZIP3):c.731G>A (p.Ser244Asn)	DZIP3 (S244N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2560997	NM_014648.4(DZIP3):c.2050A>G (p.Lys684Glu)	DZIP3 (K684E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548973	NM_014648.4(DZIP3):c.62A>G (p.Glu21Gly)	DZIP3 (E21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528983	NM_014648.4(DZIP3):c.749C>T (p.Thr250Met)	DZIP3 (T250M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520856	NM_014648.4(DZIP3):c.2258G>A (p.Arg753His)	DZIP3 (R753H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493203	NM_014648.4(DZIP3):c.1282C>T (p.His428Tyr)	DZIP3 (H428Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488667	NM_014648.4(DZIP3):c.242C>G (p.Ser81Cys)	DZIP3 (S81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486684	NM_014648.4(DZIP3):c.3031C>G (p.Leu1011Val)	DZIP3 (L1011V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483527	NM_014648.4(DZIP3):c.3601C>G (p.Pro1201Ala)	DZIP3 (P1201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402719	NM_014648.4(DZIP3):c.2285A>G (p.Tyr762Cys)	DZIP3 (Y762C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402270	NM_014648.4(DZIP3):c.1475C>T (p.Pro492Leu)	DZIP3 (P492L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395800	NM_014648.4(DZIP3):c.52C>G (p.Gln18Glu)	DZIP3 (Q18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391827	NM_014648.4(DZIP3):c.2540C>T (p.Thr847Ile)	DZIP3 (T847I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384914	NM_014648.4(DZIP3):c.2560G>A (p.Ala854Thr)	DZIP3 (A854T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369587	NM_014648.4(DZIP3):c.2092G>C (p.Val698Leu)	DZIP3 (V698L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345398	NM_014648.4(DZIP3):c.2545G>A (p.Val849Ile)	DZIP3 (V849I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341765	NM_014648.4(DZIP3):c.1102G>A (p.Asp368Asn)	DZIP3 (D368N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326376	NM_014648.4(DZIP3):c.2954T>C (p.Met985Thr)	DZIP3 (M985T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311520	NM_014648.4(DZIP3):c.2388T>G (p.Asn796Lys)	DZIP3 (N796K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300100	NM_014648.4(DZIP3):c.341C>T (p.Ala114Val)	DZIP3 (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289491	NM_014648.4(DZIP3):c.2962G>A (p.Val988Ile)	DZIP3 (V988I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286058	NM_014648.4(DZIP3):c.443G>A (p.Arg148Lys)	DZIP3 (R148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278655	NM_014648.4(DZIP3):c.1738A>T (p.Met580Leu)	DZIP3 (M580L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273055	NM_014648.4(DZIP3):c.457G>T (p.Asp153Tyr)	DZIP3 (D153Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272575	NM_014648.4(DZIP3):c.1130T>G (p.Phe377Cys)	DZIP3 (F377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270649	NM_014648.4(DZIP3):c.989T>C (p.Val330Ala)	DZIP3 (V330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265411	NM_014648.4(DZIP3):c.1145A>G (p.Glu382Gly)	DZIP3 (E382G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255328	NM_014648.4(DZIP3):c.2834C>T (p.Thr945Ile)	DZIP3 (T945I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251981	NM_014648.4(DZIP3):c.2429A>G (p.Gln810Arg)	DZIP3 (Q810R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248575	NM_014648.4(DZIP3):c.901C>G (p.Pro301Ala)	DZIP3 (P301A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238340	NM_014648.4(DZIP3):c.1683T>A (p.Asp561Glu)	DZIP3 (D561E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238033	NM_014648.4(DZIP3):c.468A>C (p.Glu156Asp)	DZIP3 (E156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234462	NM_014648.4(DZIP3):c.2763C>A (p.Asn921Lys)	DZIP3 (N921K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220455	NM_014648.4(DZIP3):c.556G>A (p.Gly186Ser)	DZIP3 (G186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208082	NM_014648.4(DZIP3):c.2140G>A (p.Ala714Thr)	DZIP3 (A714T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 791944	NM_014648.4(DZIP3):c.17A>G (p.Asp6Gly)	DZIP3 (D6G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719661	NM_014648.4(DZIP3):c.456+10A>G	DZIP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685811	GRCh37/hg19 3q13.13(chr3:107982673-108483113)x3	CIP2A, DZIP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562801	GRCh37/hg19 3q13.13(chr3:107976442-108467220)x3	HHLA2, MYH15 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562799	GRCh37/hg19 3q13.12-13.13(chr3:106706719-109171489)x1	MORC1-AS1, DZIP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441867	GRCh37/hg19 3q13.13(chr3:108146914-108651271)x1	CIP2A, DZIP3 +4 more	Copy number loss	See cases	GUncertain significance
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	ALCAM, BBX +89 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 79