26094[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 58331	GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3	DCAF4, DPF3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2513776	NM_015604.4(DCAF4):c.16T>C (p.Trp6Arg)	DCAF4 (W6R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2371393	NM_015604.4(DCAF4):c.21G>C (p.Gln7His)	DCAF4 (Q7H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080294	NM_015604.4(DCAF4):c.32G>A (p.Arg11Gln)	DCAF4 (R11Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2206295	NM_015604.4(DCAF4):c.77G>A (p.Arg26His)	DCAF4 (V15M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 768661	NM_015604.4(DCAF4):c.84T>C (p.Ser28=)	DCAF4 (L17P)	Single nucleotide variant (synonymous variant +4 more)	not provided	GBenign
Select item 2271617	NM_015604.4(DCAF4):c.160T>G (p.Ser54Ala)	DCAF4 (S54A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080292	NM_015604.4(DCAF4):c.266A>G (p.Asn89Ser)	DCAF4 (N67S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080293	NM_015604.4(DCAF4):c.290G>A (p.Arg97Gln)	DCAF4 (R97Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2287822	NM_015604.4(DCAF4):c.298G>A (p.Glu100Lys)	DCAF4 (E78K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510706	NM_015604.4(DCAF4):c.319C>T (p.Arg107Trp)	DCAF4 (R107W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455195	NM_015604.4(DCAF4):c.320G>A (p.Arg107Gln)	DCAF4 (R107Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2267908	NM_015604.4(DCAF4):c.332A>G (p.Glu111Gly)	DCAF4 (E111G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312574	NM_015604.4(DCAF4):c.360G>C (p.Arg120Ser)	DCAF4 (R98S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2595188	NM_015604.4(DCAF4):c.485G>A (p.Arg162Gln)	DCAF4 (R162Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2546462	NM_015604.4(DCAF4):c.554G>A (p.Arg185Gln)	DCAF4 (R163Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211555	NM_015604.4(DCAF4):c.569A>C (p.Asn190Thr)	DCAF4 (N129T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312575	NM_015604.4(DCAF4):c.674G>A (p.Arg225Gln)	DCAF4 (R125Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493493	NM_015604.4(DCAF4):c.680T>C (p.Val227Ala)	DCAF4 (V227A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 190970	NM_015604.4(DCAF4):c.728+1334G>A	DCAF4	Single nucleotide variant (intron variant)	Telomere length, mean leukocyte	GUncertain significance
Select item 2393533	NM_015604.4(DCAF4):c.745C>T (p.Leu249Phe)	DCAF4 (L227F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614672	NM_015604.4(DCAF4):c.796A>G (p.Asn266Asp)	DCAF4 (N205D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560832	NM_015604.4(DCAF4):c.796A>C (p.Asn266His)	DCAF4 (N205H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080295	NM_015604.4(DCAF4):c.850G>A (p.Gly284Ser)	DCAF4 (G284S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080296	NM_015604.4(DCAF4):c.853G>T (p.Ala285Ser)	DCAF4 (A286S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472473	NM_015604.4(DCAF4):c.862T>G (p.Cys288Gly)	DCAF4 (C188G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281380	NM_015604.4(DCAF4):c.872C>G (p.Ser291Cys)	DCAF4 (S270C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211443	NM_015604.4(DCAF4):c.917G>A (p.Arg306Gln)	DCAF4 (R307Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256748	NM_015604.4(DCAF4):c.922G>A (p.Val308Ile)	DCAF4 (V248I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392545	NM_015604.4(DCAF4):c.964G>A (p.Gly322Arg)	DCAF4 (G262R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709977	NM_015604.4(DCAF4):c.973A>G (p.Ser325Gly)	DCAF4 (S225G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3080287	NM_015604.4(DCAF4):c.1052T>C (p.Ile351Thr)	DCAF4 (I330T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291943	NM_015604.4(DCAF4):c.1061G>A (p.Arg354His)	DCAF4 (R348H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489964	NM_015604.4(DCAF4):c.1097G>A (p.Arg366His)	DCAF4 (R360H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080288	NM_015604.4(DCAF4):c.1213G>A (p.Val405Ile)	DCAF4 (V345I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2395512	NM_015604.4(DCAF4):c.1220A>C (p.Gln407Pro)	DCAF4 (Q307P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468179	NM_015604.4(DCAF4):c.1225G>A (p.Glu409Lys)	DCAF4 (E195K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080289	NM_015604.4(DCAF4):c.1261C>T (p.His421Tyr)	DCAF4 (H361Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382561	NM_015604.4(DCAF4):c.1303G>A (p.Asp435Asn)	DCAF4 (D414N +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 757538	NM_015604.4(DCAF4):c.1340G>A (p.Arg447His)	DCAF4 (R233H +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3080290	NM_015604.4(DCAF4):c.1364C>T (p.Pro455Leu)	DCAF4 (P434L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080291	NM_015604.4(DCAF4):c.1412G>C (p.Arg471Pro)	DCAF4 (R450P +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346372	NM_015604.4(DCAF4):c.1432G>A (p.Ala478Thr)	DCAF4 (A378T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684734	GRCh37/hg19 14q24.2(chr14:73285307-73708676)x3	DCAF4, DPF3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684733	GRCh37/hg19 14q24.2-24.3(chr14:72984321-73975604)x3	DCAF4, DPF3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 1807977	GRCh37/hg19 14q24.2(chr14:73216923-73758752)x3	DCAF4, DPF3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340204	GRCh37/hg19 14q24.2(chr14:73336295-73666940)x3	DCAF4, DPF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980610	GRCh37/hg19 14q24.2(chr14:73337224-73617867)x3	PSEN1, DPF3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564112	GRCh37/hg19 14q24.2(chr14:73264012-73621110)x3	DPF3, PSEN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +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	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59