ClinVar for Gene (Select 8816) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270989	NM_003861.3(DCAF5):c.1477A>G (p.Thr493Ala)	DCAF5, LOC126861976 (T492A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270988	NM_003861.3(DCAF5):c.492T>A (p.Asp164Glu)	DCAF5 (D163E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270987	NM_003861.3(DCAF5):c.331A>G (p.Ser111Gly)	DCAF5 (S111G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270986	NM_003861.3(DCAF5):c.1448T>C (p.Leu483Pro)	DCAF5, LOC126861976 (L482P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270985	NM_003861.3(DCAF5):c.2363G>A (p.Arg788Gln)	DCAF5 (R788Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080321	NM_003861.3(DCAF5):c.949G>A (p.Gly317Ser)	DCAF5 (G235S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080319	NM_003861.3(DCAF5):c.526C>T (p.Pro176Ser)	DCAF5 (P176S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080318	NM_003861.3(DCAF5):c.2795A>C (p.Glu932Ala)	DCAF5 (E850A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080317	NM_003861.3(DCAF5):c.2751T>A (p.Ser917Arg)	DCAF5 (S917R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080316	NM_003861.3(DCAF5):c.2533C>G (p.His845Asp)	DCAF5 (H845D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080315	NM_003861.3(DCAF5):c.2294C>T (p.Thr765Ile)	DCAF5 (T683I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080314	NM_003861.3(DCAF5):c.1929A>C (p.Gln643His)	DCAF5 (Q561H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080313	NM_003861.3(DCAF5):c.1888A>G (p.Thr630Ala)	DCAF5 (T630A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080312	NM_003861.3(DCAF5):c.1552C>T (p.Arg518Cys)	DCAF5, LOC126861976 (R518C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080311	NM_003861.3(DCAF5):c.1400G>A (p.Arg467His)	DCAF5, LOC126861976 (R385H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080309	NM_003861.3(DCAF5):c.118G>A (p.Gly40Ser)	DCAF5 (G40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080308	NM_003861.3(DCAF5):c.1124G>A (p.Arg375Gln)	DCAF5, LOC126861976 (R375Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2617817	NM_003861.3(DCAF5):c.2726G>A (p.Ser909Asn)	DCAF5 (S908N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614379	NM_003861.3(DCAF5):c.893G>T (p.Gly298Val)	DCAF5 (G216V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603893	NM_003861.3(DCAF5):c.1732C>G (p.Arg578Gly)	DCAF5, LOC126861976 (R578G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543000	NM_003861.3(DCAF5):c.2602G>C (p.Asp868His)	DCAF5 (D868H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536828	NM_003861.3(DCAF5):c.2236G>T (p.Gly746Cys)	DCAF5 (G745C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474625	NM_003861.3(DCAF5):c.1598C>T (p.Ser533Phe)	DCAF5, LOC126861976 (S533F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469173	NM_003861.3(DCAF5):c.2198T>C (p.Phe733Ser)	DCAF5 (F733S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	SLC39A9, PLEKHD1 +13 more	Deletion	not provided	GPathogenic
Select item 2401650	NM_003861.3(DCAF5):c.2660A>C (p.Glu887Ala)	DCAF5 (E805A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372653	NM_003861.3(DCAF5):c.1844A>G (p.Tyr615Cys)	DCAF5 (Y614C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357748	NM_003861.3(DCAF5):c.1937G>A (p.Arg646Gln)	DCAF5 (R645Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328116	NM_003861.3(DCAF5):c.565G>C (p.Ala189Pro)	DCAF5 (A107P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326018	NM_003861.3(DCAF5):c.2152C>A (p.Gln718Lys)	DCAF5 (Q717K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309748	NM_003861.3(DCAF5):c.1213G>A (p.Ala405Thr)	DCAF5, LOC126861976 (A323T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302686	NM_003861.3(DCAF5):c.2092C>T (p.His698Tyr)	DCAF5 (H616Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285543	NM_003861.3(DCAF5):c.1939G>C (p.Ala647Pro)	DCAF5 (A565P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279981	NM_003861.3(DCAF5):c.2171C>T (p.Pro724Leu)	DCAF5 (P642L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268949	NM_003861.3(DCAF5):c.1252T>C (p.Phe418Leu)	DCAF5, LOC126861976 (F417L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252736	NM_003861.3(DCAF5):c.71A>G (p.His24Arg)	DCAF5 (H24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251978	NM_003861.3(DCAF5):c.749C>A (p.Ala250Asp)	DCAF5 (A249D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246846	NM_003861.3(DCAF5):c.17G>C (p.Gly6Ala)	DCAF5, LOC130055960 (G6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246579	NM_003861.3(DCAF5):c.1957A>G (p.Ile653Val)	DCAF5 (I571V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215218	NM_003861.3(DCAF5):c.2533C>A (p.His845Asn)	DCAF5 (H763N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212934	NM_003861.3(DCAF5):c.2222C>T (p.Pro741Leu)	DCAF5 (P740L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208449	NM_003861.3(DCAF5):c.2629A>C (p.Thr877Pro)	DCAF5 (T795P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203860	NM_003861.3(DCAF5):c.2542G>A (p.Gly848Arg)	DCAF5 (G847R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 57807	GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1	ACTN1, ACTN1-DT +83 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 52