DCAF11[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 2387197	NM_025230.5(DCAF11):c.47C>T (p.Pro16Leu)	DCAF11 (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473840	NM_025230.5(DCAF11):c.55G>T (p.Gly19Cys)	DCAF11 (G19C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278145	NM_025230.5(DCAF11):c.64C>G (p.Arg22Gly)	DCAF11 (R22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218063	NM_025230.5(DCAF11):c.128C>T (p.Ala43Val)	DCAF11 (A43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358756	NM_025230.5(DCAF11):c.320A>G (p.Asn107Ser)	DCAF11 (N81S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375823	NM_025230.5(DCAF11):c.371G>A (p.Arg124Gln)	DCAF11 (R124Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768640	NM_025230.5(DCAF11):c.376G>A (p.Ala126Thr)	DCAF11 (A100T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2208597	NM_025230.5(DCAF11):c.383A>T (p.Lys128Met)	DCAF11 (K102M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513555	NM_025230.5(DCAF11):c.395C>T (p.Pro132Leu)	DCAF11 (P132L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080243	NM_025230.5(DCAF11):c.434G>A (p.Arg145Gln)	DCAF11 (R119Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2252623	NM_025230.5(DCAF11):c.493C>G (p.Leu165Val)	DCAF11 (L139V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080244	NM_025230.5(DCAF11):c.562A>G (p.Met188Val)	DCAF11 (M188V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270951	NM_025230.5(DCAF11):c.563T>C (p.Met188Thr)	DCAF11 (M162T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270947	NM_025230.5(DCAF11):c.613C>T (p.Arg205Cys)	DCAF11 (R205C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080245	NM_025230.5(DCAF11):c.626T>G (p.Phe209Cys)	DCAF11 (F209C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247098	NM_025230.5(DCAF11):c.646G>A (p.Asp216Asn)	DCAF11 (D216N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270306	NM_025230.5(DCAF11):c.674C>T (p.Ala225Val)	DCAF11 (A225V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597869	NM_025230.5(DCAF11):c.784G>C (p.Asp262His)	DCAF11 (D236H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339399	NM_025230.5(DCAF11):c.791G>A (p.Arg264His)	DCAF11 (R238H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270952	NM_025230.5(DCAF11):c.833G>A (p.Arg278Gln)	DCAF11 (R252Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247669	NM_025230.5(DCAF11):c.881G>A (p.Arg294Gln)	DCAF11 (R268Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361393	NM_025230.5(DCAF11):c.953T>C (p.Ile318Thr)	DCAF11 (I318T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224900	NM_025230.5(DCAF11):c.959C>G (p.Ser320Cys)	DCAF11 (S294C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080239	NM_025230.5(DCAF11):c.1103G>A (p.Arg368Gln)	DCAF11 (R342Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456313	NM_025230.5(DCAF11):c.1166G>A (p.Ser389Asn)	DCAF11 (S389N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236257	NM_025230.5(DCAF11):c.1235T>C (p.Val412Ala)	DCAF11 (V412A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365547	NM_025230.5(DCAF11):c.1245A>T (p.Lys415Asn)	DCAF11 (K389N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270945	NM_025230.5(DCAF11):c.1277G>A (p.Ser426Asn)	DCAF11 (S426N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080240	NM_025230.5(DCAF11):c.1405G>A (p.Asp469Asn)	DCAF11 (D443N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270949	NM_025230.5(DCAF11):c.1426G>A (p.Val476Met)	DCAF11 (V476M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270948	NM_025230.5(DCAF11):c.1442A>G (p.Asn481Ser)	DCAF11 (N455S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270946	NM_025230.5(DCAF11):c.1446C>G (p.His482Gln)	DCAF11 (H456Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403594	NM_025230.5(DCAF11):c.1465G>A (p.Val489Ile)	DCAF11 (V463I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080241	NM_025230.5(DCAF11):c.1498A>G (p.Ser500Gly)	DCAF11 (S500G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558662	NM_025230.5(DCAF11):c.1499G>A (p.Ser500Asn)	DCAF11 (S474N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310677	NM_025230.5(DCAF11):c.1618A>G (p.Thr540Ala)	DCAF11 (T514A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080242	NM_025230.5(DCAF11):c.1628C>G (p.Ser543Cys)	DCAF11 (S517C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063335	GRCh37/hg19 14q11.2-12(chr14:24566156-24631608)x1	DCAF11, EMC9 +6 more	Copy number loss	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 807188	GRCh37/hg19 14q11.2-12(chr14:24505708-24601038)x1	CARMIL3, DCAF11 +5 more	Copy number loss	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
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 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 62